Anatomy

The skin consists of the epidermis, dermis and skin appendages (Fig. 1.1A), comprising a wide range of cell types capable of proliferation and neoplastic transformation. The range of cutaneous tumours is thus very extensive, ranging from common papillomas and basal cell carcinomas to much rarer skin appendage and soft tissue tumours in the dermis. Both benign and malignant tumours are classified according to their cell of origin as well as to their location in the epidermis, dermis or one of the skin appendages. This chapter considers only those of interest to ophthalmologists.

Fig. 1.1 Eyelid skin (A) Normal skin is composed of keratinized stratified epithelium that covers the surface; pilosebaceous elements are conspicuous in the dermis and a few blood vessels and sweat glands are also seen; (B) dysplasia with loss of cell polarity; (C) dyskeratosis – a non-surface epithelial cell producing keratin; (D) parakeratosis – retention of cell nuclei into the surface keratin layer

(Courtesy of J Harry – Fig. A; J Harry & G Misson, from Clinical Ophthalmic Pathology, Butterworth-Heinemann, 2001 – Figs B, C and D)

Terminology

General considerations

Benign skin lesions are much more common and varied than malignancies.

Chalazion

Diagnosis

1 Histology shows a lipogranulomatous inflammatory reaction containing epithelioid histiocytes, multinucleated giant cells and plasma cells (Fig. 1.2A).

2 Presentation is at any age with a gradually enlarging painless nodule. Very occasionally a large upper lid chalazion may press on the cornea, induce astigmatism and cause blurred vision.

3 Signs

• A nodule within the tarsal plate (Fig. 1.2B) that may be tender if inflamed.

• Eversion of the lid may show an associated polypoidal granuloma if the lesion has ruptured through the tarsal conjunctiva (Fig. 1.2C).

• A ‘marginal’ chalazion is similar except that it involves a gland of Zeis and is therefore located not in the tarsal plate but on the anterior lid margin.

• Patients with meibomian gland disease or rosacea are at increased risk of chalazion formation which may be multiple (Fig. 1.2D) and/or recurrent.

• It is very important not to mistake a sebaceous gland carcinoma for a ‘recurrent chalazion’. In doubtful cases, the lesion should be biopsied and examined histologically.

Fig. 1.2 Chalazion. (A) Histology shows a lipogranuloma; the large pale cells are epithelioid cells and the well-demarcated empty space contained fat which has been dissolved out during processing; (B) chalazion involving the lower lid; (C) conjuctival granuloma; (D) multiple chalazia in a patient with acne rosacea; (E) chalazion clamp

(Courtesy of J Harry and G Misson, from Clinical Ophthalmic Pathology, Butterworth-Heinemann 2001 – fig. A; S Tuft – fig. D; J Nerad, K Carter and M Alford, from Oculoplastic and Reconstructive Surgery, in Rapid Diagnosis in Ophthalmology, Mosby 2008 – fig. E)

Other cysts

Fig. 1.3 (A) Epidermal inclusion cyst. (B) dermoid cyst; (C) sebaceous cysts; (D) cyst of Zeis

(Courtesy of A Pearson – fig. A)

Fig. 1.4 (A) Cyst of Moll; (B) eccrine hidrocystomas; (C) milia; (D) comedones

(Courtesy of A Pearson – figs B and D)

Squamous cell papilloma

A squamous cell papilloma (fibroepithelial polyp) is a very common condition that has a variable clinical appearance but common histological features.

Fig. 1.5 Squamous cell papilloma. (A) Histology shows finger-like projections of fibrovascular connective tissue covered by irregular acanthotic and hyperkeratotic squamous epithelium; (B) skin tag; (C) sessile lesion with a raspberry-like surface; (D) hyperkeratotic filiform lesion

(Courtesy of J Harry – fig. A; A Pearson – fig. D)

Basal cell papilloma

Basal cell papilloma (seborrhoeic keratosis, seborrhoeic wart, senile verruca) is a common, slow-growing condition found on the face, trunk and extremities of elderly individuals.

Fig. 1.6 Basal cell papilloma. (A) Histology shows an elevated expansion of the epidermis with proliferation from basal cells; horn cysts and pseudohorn cysts are evident; (B) typical ‘stuck-on’ appearance

(Courtesy of J Harry – fig. A; A Pearson – fig. B)

Actinic keratosis

Actinic (solar, senile) keratosis is a common slow-growing lesion that rarely develops on the eyelids. It typically affects elderly, fair-skinned individuals who have been exposed to excessive sunlight and most frequently occurs on the forehead and backs of the hands. It has a low potential for transformation into squamous cell carcinoma.

Fig. 1.7 Actinic keratosis. (A) Histology shows irregular dysplastic epidermis with hyperkeratosis, parakeratosis and cutaneous horn formation; (B) clinical appearance

(Courtesy of J Harry and G Misson, from Clinical Ophthalmic Pathology, Butterworth-Heinemann 2001 – fig. A; M Jager – fig. B)

Freckle (ephelis)

A brown macule due to increased melanin in the epidermal basal layer, generally in sunlight-exposed areas (Fig. 1.8).

Fig. 1.8 Freckle (ephilis)

Congenital melanocytic naevus

Congenital naevi are uncommon and histologically resemble their acquired counterparts. Large lesions have potential for malignant transformation of up to 15%.

Fig. 1.9 Congenital melanocytic naevus. (A) Split naevus; (B) split naevus containing hair; (C) extensive cutaneous involvement

(Courtesy of A Pearson – fig. B; U Raina – fig. C)

Acquired melanocytic naevus

Fig. 1.10 Acquired melanocytic naevus. (A) Junctional naevus; (B) histology shows heavily pigmented naevus cells at the epidermal/dermal junction.

(C) Compound naevus; (D) histology shows naevus cells both at the epidermal/dermal junction and within the dermis. (E) Intradermal naevus; (F) histology shows naevus cells within the dermis separated by a clear zone from the epidermis

(Courtesy of J Harry – figs B, D and F)

Syringoma

Syringomas are benign proliferations arising from eccrine sweat glands. They are characterized by small papules that are often multiple and bilateral (Fig. 1.11).

Fig. 1.11 Syringomas

(Courtesy of A Pearson)

Pilomatricoma

Pilomatricoma (pilomatrixoma, calcifying epithelioma of Malherbe) is derived from the germinal matrix cells of the hair bulb. It affects children and young adults and is more common in females. It is the commonest hair follicle proliferation seen by ophthalmologists. Malignant change is rare.

Fig. 1.12 Pilomatricoma. (A) Histology shows viable basophilic cells to the right and degenerate shadow cells to the left; (B) clinical appearance

(Courtesy of J Harry and G Misson, from Clinical Ophthalmic Pathology, Butterworth-Heinemann 2001 – fig. A; J Krachmer, M Mannis and E Holland, from Cornea, Elsevier 2005 – fig. B)

Other less common hair follicle proliferations include trichofolliculoma, trichoepithelioma and trichilemmoma.

Capillary haemangioma

Capillary haemangioma (strawberry naevus), although rare, is one of the most common tumours of infancy and presents shortly after birth. The female to male ratio is 3:1. Eyelid haemangiomas have a predilection for the upper lid and may have orbital extensions. Occasionally the lesion may also involve the skin of the face and some patients have strawberry naevi on other parts of the body. It is important to be aware of the association between multiple cutaneous lesions and visceral haemangiomas.

Fig. 1.13 Capillary haemangioma. (A) Histology shows vascular channels of varying size within the dermis and subcutaneous tissue; (B) small haemangioma; (C) mechanical ptosis due to a large lesion

(Courtesy of J Harry – fig. A)

Fig. 1.14 (A) Large capillary haemangioma; (B) appearance several weeks following steroid injection

(Courtesy of U Raina)

Port-wine stain

A port-wine stain (naevus flammeus, cavernous haemangioma) is a rare congenital, subcutaneous lesion consisting of large ectatic vessels of varying calibre. It most frequently occurs on the face and is usually unilateral and segmental but occasionally may be bilateral. Some patients have associated Sturge–Weber syndrome (see below).

Cutaneous features

1 Histology shows dilated blood-filled spaces separated by thin fibrous septa (Fig. 1.15A).

2 Signs

• A sharply demarcated soft pink patch which does not blanch with pressure (Fig. 1.15B).

• With age, the lesion does not grow but darkens to red or purple (Fig. 1.16A and B).

• The overlying skin may become hypertrophied, coarse, nodular and friable and may bleed or become infected (Fig. 1.16C).

3 Treatment with laser, if undertaken during early life, is effective in decreasing the amount of skin discoloration in relatively flat or mildly hypertrophic lesions. Photodynamic therapy may be useful for resistant lesions.

Fig. 1.15 Port-wine stain. (A) Histology shows widely dilated blood-filled spaces separated by fibrous septa; (B) clinical appearance

(Courtesy of L Horton – fig. A)

Fig. 1.16 (A–C) Progression of port-wine stain with time

Pyogenic granuloma

A pyogenic granuloma is a fast-growing vascularized proliferation of granulation tissue which is usually antedated by surgery, trauma or infection, although some cases are idiopathic.

Fig. 1.17 Pyogenic granuloma. (A) Histology shows inflamed vascularized connective tissue; (B) clinical appearance

(Courtesy of J Harry and G Misson, from Clinical Ophthalmic Pathology, Butterworth-Heinemann 2001 – fig. A)

Xanthelasma

Xanthelasma is a common, frequently bilateral condition which is usually found in middle-aged and elderly individuals. Xanthelasma (and corneal arcus) (see Fig. 1.18B) can be associated with increased levels of serum cholesterol, especially in young males.

Fig. 1.18 Xanthelasma. (A) Histology shows foamy histiocytes within the dermis; (B) clinical appearance – note corneal arcus

(Courtesy of J Harry – fig. A; M Zatouroff, from Physical Signs in General Medicine, Mosby-Wolfe, 1996 – fig. B)

Neurofibroma

Plexiform neurofibromas typically affect children who also have neurofibromatosis type I (NF1). Solitary neurofibromas typically occur in adults, 25% of whom have NF1.

Fig. 1.19 Neurofibroma. (A) Histology shows proliferation of Schwann cells, fibroblasts and nerve axons, and wavy collagen fibres; (B) characteristic S-shaped eyelid

(Courtesy of J Harry – fig. A)

Rare predisposing conditions

Young patients who suffer from one of the following conditions may develop eyelid malignancies:

Fig. 1.20 Predispositions to eyelid malignancies. (A) Xeroderma pigmentosum; (B) Gorlin–Goltz syndrome

(Courtesy of J Krachmer, M Mannis and E Holland, from Cornea, Mosby 2005 – fig. B)

Basal cell carcinoma

Histology

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The tumour arises from the cells that form the basal layer of the epidermis. The cells proliferate downwards (Fig. 1.21A) and characteristically exhibit palisading at the periphery of a tumour lobule of cells (Fig. 1.21B). Squamous differentiation with the production of keratin results in a hyperkeratotic type of BCC. There can also be sebaceous and adenoid differentiation while the growth of elongated strands and islands of cells embedded in a dense fibrous stroma results in a sclerosing (morphoeic) type of tumour.

Fig. 1.21 Basal cell carcinoma. (A) Histology shows downward proliferation of lobules of basal (purple) cells; (B) histology shows palisading of cells at the periphery of a tumour lobule; (C) nodular tumour; (D) rodent ulcer; (E) large rodent ulcer; (F) sclerosing tumour

(Courtesy of J Harry – figs A and B)

Squamous cell carcinoma

General features

SCC is a much less common, but typically more aggressive tumour than BCC with metastasis to regional lymph nodes in about 20% of cases. Careful surveillance of regional lymph nodes is therefore an important aspect of initial management. The tumour may also exhibit perineural spread to the intracranial cavity via the orbit. SCC accounts for 5–10% of eyelid malignancies and may arise de novo or from pre-existing actinic keratosis or carcinoma in situ (Bowen disease, intraepidermal carcinoma; Fig. 1.22). Immunocompromised patients such as those with AIDS or following renal transplants are at increased risk. The tumour has a predilection for the lower eyelid and the lid margin. It occurs most commonly in elderly individuals with a fair complexion and a history of chronic sun exposure. The diagnosis of SCC may be difficult because certain ostensibly benign lesions such as keratoacanthoma and cutaneous horn may reveal histological evidence of invasive SCC at deeper levels of sectioning.

Fig. 1.22 Carcinoma in situ. (A) Histology shows dysplastic changes throughout the thickness of the epidermis, together with hyperkeratosis; (B) red scaling plaque

(Courtesy of L Horton – fig. A; H Frank – fig. B)

Histology

The tumour arises from the squamous cell layer of the epidermis. It is composed of variable-sized groups of atypical epithelial cells with prominent nuclei and abundant eosinophilic cytoplasm within the dermis (Fig. 1.23A). Well-differentiated tumours may show characteristic keratin ‘pearls’ and intercellular bridges (desmosomes).

Fig. 1.23 Squamous cell carcinoma. (A) Histology shows acanthotic squamous epithelium and eosinophilic (pink) islands of dysplastic squamous epithelium within the dermis; (B) nodular tumour with surface keratosis; (C) ulcerating tumour; (D) cutaneous horn

(Courtesy of L Horton – fig. A; A Singh, from Clinical Ophthalmic Oncology, Saunders 2007 – fig. B; H Frank – fig. C; S Farley, T Cole and L Rimmer – fig. D)

Keratoacanthoma

Keratoacanthoma is a rare tumour that usually occurs in fair-skinned individuals with a history of chronic sun exposure. It is found more frequently than would be expected by chance in patients on immunosuppressive therapy. Histopathologically, keratoacanthoma is regarded as part of the spectrum of SCC.

Fig. 1.24 Keratoacanthoma. (A) Histology shows irregularly thickened eosinophilic epidermis with a keratin-containing cup and well-marked shoulder formation; (B) hyperkeratotic nodule; (C) large tumour; (D) keratin-filled crater during involution

Sebaceous gland carcinoma

Histology

The tumour consists of lobules of cells with pale foamy vacuolated lipid-containing cytoplasm and large hyperchromatic nuclei (Fig. 1.25A).

Fig. 1.25 Sebaceous gland carcinoma. (A) Histology shows cells with large hyperchromatic nuclei and vacuolated cytoplasm; (B) nodular tumour; (C) spreading tumour; (D) pagetoid spread

(Courtesy of A Garner – fig. A; A Singh, from Clinical Ophthalmic Oncology, Saunders 2007 – fig. B; S Tuft – fig. C; H Frank fig. D)

Lentigo maligna and melanoma

Melanoma rarely develops on the eyelids but is potentially lethal. Although pigmentation is a hallmark of skin melanomas, half of lid melanomas are non-pigmented and this may give rise to diagnostic difficulties. Features suggestive of melanoma include recent onset of a pigmented lesion, change in an existing pigmented lesion, irregular margins, asymmetrical shape, colour change or presence of multiple colours, and diameter greater than 6 mm in diameter.

Lentigo maligna

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Lentigo maligna (melanoma in situ, intraepidermal melanoma and Hutchinson freckle) is an uncommon condition that develops in sun-damaged skin in elderly individuals. Malignant change may occur, with infiltration of the dermis.

1 Histology shows intraepidermal proliferation of spindle-shaped atypical melanocytes that replace the basal layer of the epidermis (Fig. 1.26A).

2 Signs

• A slowly expanding pigmented macule with an irregular border (Fig. 1.26B).

• Nodular thickening and areas of irregular pigmentation are highly suggestive of malignant transformation (Fig. 1.26C).

3 Treatment is usually by excision.

Fig. 1.26 Lentigo maligna. (A) Histology shows melanoma cells proliferating within the basal layers of the epidermis; (B) lentigo maligna; (C) melanoma arising from lentigo maligna

(Courtesy of L Horton – fig. A; S Delva – figs B and C)

Melanoma

1 Histology shows large atypical melanocytes within the dermis (Fig. 1.27A).

2 Signs

a Superficial spreading melanoma is characterized by a plaque with an irregular outline and variable pigmentation (Fig. 1.27B).

b Nodular melanoma is typically a blue-black nodule surrounded by normal skin (Fig. 1.27C).

3 Treatment is usually by wide excision and may include local lymph node removal.

Fig. 1.27 Melanoma. (A) Histology shows melanoma cells within the dermis; (B) superficial spreading melanoma; (C) nodular melanoma

(Courtesy of J Harry – fig. A)

Merkel cell carcinoma

Merkel cell carcinoma is a fast-growing tumour which typically affects the elderly. Although Merkel cells lie within the epidermis, the tumour appears to arise from the dermis. Its rarity may lead to difficulty in diagnosis and delay in treatment. The tumour is highly malignant and 50% of patients have metastatic spread at presentation.

Fig. 1.28 Merkel cell carcinoma. (A) Histology shows a sheet of Merkel cells; (B) clinical appearance

(Courtesy of J Harry and L Misson, from Ocular Ophthalmic Pathology, Butterworth-Heinemann 2001 – fig. A)

Kaposi sarcoma

Kaposi sarcoma is a vascular tumour which typically affects patients with the acquired immune deficiency syndrome (AIDS). Many patients have advanced systemic disease although in some instances the tumour may be the only clinical manifestation of HIV infection.

Fig. 1.29 Kaposi sarcoma. (A) Histology shows a proliferation of predominantly spindle-shaped cells; vascular channels are evident; (B) clinical appearance

(Courtesy of J Harry – fig. A)

Treatment of malignant tumours

Reconstruction

The technique of reconstruction depends on the extent of tissue removed and whether this is full- or partial-thickness. It is important to reconstruct both anterior and posterior lamellae. If one of the lamellae has been sacrificed during excision of the tumour, it must be reconstructed with similar tissue. Anterior lamellar defects may be closed directly or with a local flap or skin graft. Full-thickness defects may be repaired as follows:

1 Small defects involving less than one-third of the eyelid can usually be closed directly, provided the surrounding tissue is sufficiently elastic to allow approximation of the cut edges (Fig. 1.30). If necessary, a lateral cantholysis can be fashioned to mobilize additional tissue if the defect cannot be reapproximated.

2 Moderate size defects involving up to half of the eyelid may require a flap (e.g. Tenzel semicircular) for closure (Fig. 1.31).

3 Large defects involving over half of the eyelid may be closed by one of the following techniques:

a Posterior lamellar reconstruction may involve an upper lid free tarsal graft, buccal mucous membrane or hard palate graft, or a Hughes flap from the upper lid (Fig. 1.32).

b Anterior lamellar reconstruction may involve skin advancement, a local skin flap or a free skin graft (Fig. 1.33). At least one reconstructed lamella requires its own blood supply to maximize the viability of any free graft.

Fig. 1.30 Direct closure. (A) Pre-operative appearance of a basal cell carcinoma; (B) appearance following excision; (C) direct closure of defect

(Courtesy of A Pearson)

Fig. 1.31 Tenzel flap. (A) Pre-operative appearance; (B) appearance following excision; (C) appearance following closure of the flap

(Courtesy of A Pearson)

Fig. 1.32 Posterior lamellar reconstruction with a Hughes upper lid flap. (A) Preoperative appearance; (B) appearance following excision; (C) postoperative appearance with the flap yet to be divided

(Courtesy of A Pearson)

Fig. 1.33 Anterior lamellar reconstruction with a free skin graft. (A) Pre-operative appearance; (B) appearance following excision; (C) skin graft in place

(Courtesy of A Pearson)

Anatomy

The lashes (cilia) are slightly more numerous in the upper (approximately 100) than in the lower lid. The lash roots lie against the anterior surface of the tarsus. The cilia pass between the orbicularis oculi and the muscle of Riolan, exiting the skin at the anterior lid margin and curve away from the globe. Scarring of the tarsal plate and conjunctiva can alter their position and direction. Following intense inflammation lashes may grow abnormally from meibomian gland openings (distichiasis).

Trichiasis

Trichiasis is a very common acquired condition which may occur in isolation or as a result of scarring of the lid margin secondary to chronic blepharitis and herpes zoster ophthalmicus. Trichiasis should not be mistaken for pseudotrichiasis secondary to entropion when in some cases the in-turning of the eyelid may be intermittent and the condition may be mistaken for true trichiasis and inappropriately treated.

Signs

Trichiasis is characterized by posterior misdirection of lashes arising from normal sites of origin (Fig. 1.34A and B). Trauma to the corneal epithelium may cause punctate epithelial erosions, with ocular irritation worsened by blinking. Corneal ulceration and pannus formation may occur in severe long-standing cases.

Fig. 1.34 Trichiasis. (A) Mild; (B) severe; (C) cryotherapy; (D) appearance following laser ablation

(Courtesy of A Pearson – figs A and C)

Congenital distichiasis

Congenital distichiasis is a rare condition that occurs when a primary epithelial germ cell destined to differentiate into a specialized sebaceous gland (meibomian gland) of the tarsus develops into a complete pilosebaceous unit. The condition is frequently inherited in an AD manner with high penetrance but variable expressivity. The majority of patients also manifest primary lymphoedema of the legs (lymphoedema–distichiasis syndrome).

Fig. 1.35 (A) Lamellar lid separation; (B) cryotherapy to the posterior lamella

(Courtesy of AG Tyers and JRO Collin, from Colour Atlas of Ophthalmic Plastic Surgery, Butterworth-Heinemann 2001)

Acquired distichiasis

Acquired distichiasis (metaplastic lashes) is caused by metaplasia and dedifferentiation of the meibomian glands to become hair follicles. The most important cause is late stage cicatrizing conjunctivitis associated with chemical injury, Stevens–Johnson syndrome and ocular cicatricial pemphigoid.

Fig. 1.36 Acquired distichiasis

(Courtesy of R Bates)

Eyelash ptosis

Eyelash ptosis is a downward sagging of upper eyelid lashes (Fig. 1.37A). The condition may be idiopathic or associated with floppy eyelid syndrome, dermatochalasis with anterior lamellar slip or long-standing facial palsy.

Fig. 1.37 Miscellaneous eyelash disorders. (A) Eyelash ptosis; (B) trichomegaly; (C) madarosis; (D) poliosis

(Courtesy of A Pearson – fig. A; L Merin – fig. B; S Tuft – fig. C)

Trichomegaly

Trichomegaly is excessive eyelash growth (Fig. 1.37B); the main causes are listed in Table 1.1.

Table 1.1 Causes of trichomegaly

Madarosis

Madarosis is a decrease in the number of lashes (Fig. 1.37C); the main causes are shown in Table 1.2

Table 1.2 Cause of madarosis

Poliosis

Poliosis is a premature localized whitening of hair, which may involve the lashes and eyebrows (Fig. 1.37D); the main causes are shown in Table 1.3.

Table 1.3 Causes of poliosis

Acute allergic oedema

Acute allergic oedema is usually caused by pollen or by insect bites.

Fig. 1.38 Allergic disorders. (A) Acute allergic oedema; (B) contact dermatitis; (C) atopic dermatitis

Contact dermatitis

Contact dermatitis is an inflammatory response that usually follows exposure to a medication or preservative, cosmetics or metals. An irritant can also cause a non-allergic toxic dermatitis. The individual is sensitized on first exposure and develops an immune reaction on further exposure. Reaction is mediated by a delayed type IV hypersensitivity response.

Atopic dermatitis

Atopic dermatitis (eczema) is a very common idiopathic condition, typically associated with asthma and hay fever. Eyelid involvement is relatively infrequent but when present is invariably associated with generalized dermatitis.

External hordeolum

An external hordeolum (stye) is an acute staphylococcal abscess of a lash follicle and its associated gland of Zeis. It is more common in children and young adults.

Fig. 1.39 Bacterial infections. (A) External hordeolum (stye); (B) impetigo; (C) erysipelas; (D) necrotizing fasciitis

Impetigo

Impetigo is an uncommon superficial skin infection caused by S. aureus or S. pyogenes which most frequently affects children. Involvement of the eyelids is usually associated with painful infection of the face.

Erysipelas

Erysipelas (St Anthony’s fire) is an uncommon, acute subcutaneous spreading cellulitis, usually caused by S. pyogenes through a site of minor skin trauma.

Necrotizing fasciitis

Necrotizing fasciitis is an extremely rare rapidly progressive necrosis initially involving subcutaneous soft tissues and later the skin. It is usually caused by S. pyogenes and occasionally S. aureus. The most frequent sites of involvement are the extremities, trunk and perineum, as well as postoperative wound sites. Unless treatment is early and appropriate death may result. Periocular infection is rare and may be secondary to trauma or surgery.

Molluscum contagiosum

Molluscum contagiosum is a skin infection caused by a human specific double-stranded DNA poxvirus which typically affects otherwise healthy children, with a peak incidence between 2 and 4 years. Transmission is by contact and subsequently by autoinoculation. Multiple, and occasionally confluent, lesions may develop in immunocompromised patients. A distribution in the chin-strap region is common in HIV-positive individuals.

Fig. 1.40 Molluscum contagiosum. (A) Histology shows lobules of hyperplastic epidermis and a pit containing intracytoplasmic inclusion bodies which are small and eosinophilic near the surface and larger and basophilic more deeply; (B) multiple molluscum nodules; (C) lid margin nodule

(Courtesy of A Garner – fig. A; N Rogers – fig. B)

Herpes zoster ophthalmicus

Herpes zoster ophthalmicus (HZO) is a common, unilateral infection caused by varicella-zoster virus. It typically affects the elderly but may occur at an earlier age. It tends to be more severe in immunocompromised individuals.

Fig. 1.41 Herpes zoster ophthalmicus (A) Maculopapular rash; (B) vesicles and crusts, and periorbital oedema

Herpes simplex

Fig. 1.42 Herpes simplex. (A) Vesicular rash; (B) eczema herpeticum

Chronic anterior blepharitis

Chronic marginal blepharitis is a very common cause of ocular discomfort and irritation. Involvement is usually bilateral and symmetrical. Blepharitis may be subdivided into anterior and posterior although there is considerable overlap and both are often present. The poor correlation between symptoms and signs, the uncertain aetiology and mechanisms of the disease process all conspire to make management difficult.

Diagnosis

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1 Symptoms do not provide a reliable clue to the type of blepharitis and are caused by disruption of normal ocular surface function and reduction in tear stability. Because of poor correlation between the severity of symptoms and clinical signs it can be difficult to objectively assess the benefit of treatment.

• Burning, grittiness, mild photophobia, and crusting and redness of the lid margins with remissions and exacerbations are characteristic.

• Symptoms are usually worse in the mornings although in patients with associated dry eye they may increase during the day.

2 Signs

a Staphylococcal blepharitis

• Hard scales and crusting mainly located around the bases of the lashes (collarettes; Fig. 1.43A).

• Mild papillary conjunctivitis and chronic conjunctival hyperaemia are common.

• Long-standing cases may develop scarring and notching (tylosis) of the lid margin (Fig. 1.43B), madarosis, trichiasis and poliosis.

• Secondary changes include stye formation, marginal keratitis and occasionally phlyctenulosis.

• Associated tear film instability and dry eye syndrome are common.

b Seborrhoeic blepharitis

• Hyperaemic and greasy anterior lid margins with sticking together of lashes (Fig. 1.43C).

• The scales are soft and located anywhere on the lid margin and lashes.

Fig. 1.43 Chronic anterior blepharitis. (A) Collarettes; (B) scarring of the lid margin; (C) greasy lid margin with sticky lashes

Chronic posterior blepharitis

Diagnosis

There is poor correlation between the severity of symptoms and the clinical signs.

1 Symptoms are similar to anterior blepharitis.

2 Signs

• Excessive and abnormal meibomian gland secretion manifest as capping of meibomian gland orifices with oil globules (Fig. 1.44A).

• Pouting, recession, or plugging of the meibomian gland orifices (Fig. 1.44B).

• Hyperaemia and telangiectasis of the posterior lid margin.

• Pressure on the lid margin results in expression of meibomian fluid that may be turbid or toothpaste-like (Fig. 1.44C); in severe cases the secretions become so inspissated that expression is impossible.

• Lid transillumination may show gland loss and cystic dilatation of meibomian ducts.

• The tear film is oily and foamy, and froth may accumulate on the lid margins or inner canthi.

• Secondary changes include papillary conjunctivitis and inferior corneal punctate epithelial erosions.

Fig. 1.44 Chronic posterior blepharitis. (A) Capping of meibomian gland orifices by oil globules; (B) plugged meibomian gland orifices; (C) expressed toothpaste-like material

(Courtesy of J Silbert, from Anterior Segment Complications of Contact Lens Wear, Butterworth-Heinemann 1999 – fig. C)

Associations of chronic blepharitis

Table 1.4 summarizes the features of chronic blephoritis.

Table 1.4 Summary of characteristics of chronic blepharitis

Phthiriasis palpebrarum

Fig. 1.45 Phthiriasis palpebrarum. (A) Phthirus pubis; (B) louse anchored to lashes; (C) louse, ova and shells

(Courtesy of J Harry and G Misson, from Clinical Ophthalmic Pathology, Butterworth-Heinemann, 2001 – fig. A; D Smit – fig. C)

Angular blepharitis

Fig. 1.46 Angular blepharitis

Childhood blepharokeratoconjunctivitis

Childhood blepharokeratoconjunctivitis is a poorly defined condition which tends to be more severe in Asian and Middle Eastern populations.

Fig. 1.47 (A) Right childhood blepharokeratoconjunctivitis; (B) peripheral vascularization

(Courtesy of S Tuft)

Classification

Ptosis is an abnormally low position of the upper lid which may be congenital or acquired.

Clinical evaluation

Pseudoptosis

A false impression of ptosis may be caused by the following:

1 Lack of support of the lids by the globe may be due to an orbital volume deficit associated with an artificial eye, microphthalmos, phthisis bulbi (Fig. 1.48A), or enophthalmos.

2 Contralateral lid retraction, which is detected by comparing the levels of the upper lids, remembering that the margin of the upper lid normally covers the superior 2 mm of the cornea (Fig. 1.48B).

3 Ipsilateral hypotropia causes pseudoptosis because the upper lid follows the globe downwards (Fig. 1.48C). It disappears when the hypotropic eye assumes fixation on covering the normal eye.

4 Brow ptosis due to excessive skin on the brow, or 7th nerve palsy, which is diagnosed by manually elevating the eyebrow (Fig. 1.48D).

5 Dermatochalasis in which there is excessive skin on the upper lids (see Fig. 1.77A); this may also cause mechanical ptosis.

Fig. 1.48 Causes of pseudoptosis. (A) Right phthisis bulbi; (B) contralateral lid retraction; (C) ipsilateral hypotropia; (D) bilateral brow ptosis

(Courtesy of S Webber – figs C and D)

Measurements

1 Margin–reflex distance is the distance between the upper lid margin and the corneal reflection of a pen torch held by the examiner, at which the patient is directly looking (Fig. 1.49); normal is 4–4.5 mm.

2 Palpebral fissure height is the distance between the upper and lower lid margins, measured in the pupillary plane (Fig. 1.50). The upper lid margin normally rests about 2 mm below the upper limbus and the lower 1 mm above the lower limbus. This measurement is shorter in males (7–10 mm) than in females (8–12 mm). Unilateral ptosis can be quantified by comparison with the contralateral side. Ptosis may be graded as mild (up to 2 mm), moderate (3 mm) and severe (4 mm or more).

3 Levator function (upper lid excursion) is measured by placing a thumb firmly against the patient’s brow to negate the action of the frontalis muscle, with the eyes in downgaze (Fig. 1.51A). The patient then looks up as far as possible and the amount of excursion is measured with a rule (Fig. 1.51B). Levator function is graded as normal (15 mm or more), good (12–14 mm), fair (5–11 mm) and poor (4 mm or less).

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4 Upper lid crease is the vertical distance between the lid margin and the lid crease in downgaze. In females it measures about 10 mm and in males 8 mm. Absence of the crease in a patient with congenital ptosis is indirect evidence of poor levator function, whereas a high crease suggests an aponeurotic defect. The skin crease is also used as a guide to the initial incision in some surgical procedures.

5 Pretarsal show is the distance between the lid margin and the skin fold with the eyes in the primary position.

Fig. 1.49 Margin–reflex distance. (A) Normal; (B) mild ptosis; (C) moderate ptosis; (D) severe ptosis

Fig. 1.50 Measurement of palpebral fissure height

Fig. 1.51 Measurement of levator function

Simple congenital ptosis

Fig. 1.52 Congenital ptosis; (A) Mild right ptosis; (B) good levator function; (C) severe left ptosis with absent lid crease; (D) very poor levator function; (E) severe bilateral ptosis; (F) very poor levator function

Marcus Gunn jaw-winking syndrome

About 5% of all cases of congenital ptosis manifest the Marcus Gunn jaw-winking phenomenon. The vast majority are unilateral. Although the exact aetiology is unclear, it has been postulated that a branch of the mandibular division of the 5th cranial nerve is misdirected to the levator muscle.

Fig. 1.53 Marcus Gunn jaw-winking syndrome. (A) Moderate left ptosis; (B) retraction of the lid on opening the mouth

3rd nerve misdirection syndromes

3rd nerve misdirection syndromes may be congenital, or more frequently may follow acquired 3rd nerve palsies. Ptosis may also occur following aberrant facial nerve regeneration.

Fig. 1.54 3rd nerve redirection. (A) Moderate right ptosis; (B) retraction of the lid on right gaze

(Courtesy of A Pearson)

Involutional ptosis

Involutional ptosis is an age-related condition caused by dehiscence, disinsertion or stretching of the levator aponeurosis, restricting transmission of force from a normal levator muscle to the upper lid. Due to fatigue of the Müller muscle it frequently worsens towards the end of the day, so that it can sometimes be confused with myasthenic ptosis.

Fig. 1.55 (A) Severe bilateral involutional ptosis with high upper lid creases and deep sulci; (B) reasonable levator function, particularly on the left

Mechanical ptosis

Mechanical ptosis is the result of impaired mobility of the upper lid. It may be caused by dermatochalasis, large tumours such as neurofibromas (Fig. 1.56), heavy scar tissue, severe oedema and anterior orbital lesions.

Fig. 1.56 Mechanical ptosis due to a neurofibroma

Surgery

Anatomy

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1 The levator aponeurosis fuses with the orbital septum about 4 mm above the superior border of the tarsus (Fig. 1.57). Its posterior fibres insert into the lower third of the anterior surface of the tarsus. The medial and lateral horns are expansions that act as check ligaments. Surgically, the aponeurosis can be approached through the skin or conjunctiva.

2 Müller muscle is inserted into the upper border of the tarsus and can be approached transconjunctivally.

3 The inferior tarsal aponeurosis consists of the capsulopalpebral expansion of the inferior rectus muscle and is analogous to the levator aponeurosis.

4 The inferior tarsal muscle is analogous to Müller muscle.

Fig. 1.57 Anatomy of the eyelid

Conjunctiva–Müller resection

1 Indications include mild ptosis with levator function of at least 10 mm. This includes most cases of Horner syndrome and very mild congenital ptosis. The maximal lift is 2–3 mm.

2 Technique. Müller muscle and overlying conjunctiva are excised (Fig. 1.58A) and the resected edges reattached (Fig. 1.58B).

Fig. 1.58 Conjunctiva–Müller resection. (A) Clamping of conjunctiva and Müller muscle; (B) appearance after excision and suturing

Levator resection

1 Indications are ptosis of any cause provided levator function is at least 5 mm. The extent of resection is determined by the amount of levator function and the severity of the ptosis.

2 Technique involves shortening of the levator complex through either an anterior (skin – Fig. 1.59) or posterior (conjunctival) approach.

Fig. 1.59 Anterior levator resection. (A) Skin incision; (B) dissection and resection of levator aponeurosis; (C) levator reattachment to the tarsal plate

(Courtesy of AG Tyers and JRO Collin, from Colour Atlas of Ophthalmic Plastic Surgery, Butterworth-Heinemann 2001)

Brow suspension

1 Indications

• Severe ptosis (>4 mm) with very poor levator function (<4 mm).

• Marcus Gunn jaw-winking syndrome.

• Ptosis associated with aberrant regeneration of the 3rd nerve.

• Blepharophimosis syndrome.

• Ptosis associated with 3rd nerve palsy.

• Unsatisfactory result from previous levator resection.

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2 Technique involves suspension of the tarsus from the frontalis muscle with a sling consisting of autologous fascia lata (Fig. 1.60) or non-absorbable material such as prolene or silicone.

Fig. 1.60 Brow suspension. (A) Site of incisions marked; (B) threading of fascia lata strips; (C) tightening and tying of strips

(Courtesy of AG Tyers and JRO Collin, from Colour Atlas of Ophthalmic Plastic Surgery, Butterworth-Heinemann 2001)

Involutional ectropion

Involutional (age-related) ectropion affects the lower lid of elderly patients. It results in epiphora and in long-standing cases the tarsal conjunctiva may become chronically inflamed, thickened and keratinized (Fig. 1.61).

Fig. 1.61 (A) Severe long-standing involutional ectropion; (B) keratinization of the tarsal conjunctiva

(Courtesy of R Bates– fig. B)

Pathogenesis

The following age-related changes are contributory:

1 Horizontal lid laxity, which is demonstrated by pulling the central part of the lid 8 mm or more from the globe, with its failure to snap back to its normal position on release without the patient first blinking (Fig. 1.62A).

2 Medial canthal tendon laxity, which is demonstrated by pulling the lower lid laterally and observing the position of the inferior punctum. If the lid is normal the punctum should not be displaced more than 1–2 mm. If laxity is mild the punctum reaches the limbus, and if severe it reaches the pupil (Fig. 1.62B).

3 Lateral canthal tendon laxity, which is characterized by a rounded appearance of the lateral canthus and the ability to pull the lower lid medially more than 2 mm.

4 Disinsertion of lower lid retractors is occasionally relevant.

Fig. 1.62 Pathogenesis of involutional ectropion. (A) Horizontal lid laxity; (B) medial canthal tendon laxity

Treatment

The methods of repair depend on the underlying aetiology and the predominant location of the ectropion as follows:

1 Generalized ectropion is treated with horizontal lid shortening. This is achieved either by excision of a tarso-conjunctival wedge (Fig. 1.63) or increasingly with a lateral canthal sling procedure (see Fig. 1.66B).

2 Medial ectropion may be treated with a medial tarsoconjunctival diamond excision, usually combined with a lateral canthal sling as horizontal laxity often co-exists.

3 Medial canthal tendon laxity, if marked, requires stabilization prior to horizontal shortening to avoid excessive dragging of the punctum laterally.

Fig. 1.63 Horizontal lid shortening to correct ectropion. (A) Vertical cut; (B) excision of a pentagon; (C) closure

(Courtesy of AG Tyers and JRO Collin, from Colour Atlas of Ophthalmic Plastic Surgery, Butterworth-Heinemann 2001)

Cicatricial ectropion

Cicatricial ectropion is caused by scarring or contracture of the skin and underlying tissues which pulls the eyelid away from the globe (Fig. 1.64A). If the skin is pushed up over the orbital margin with a finger the ectropion will be relieved and the lids will close. Opening the mouth tends to accentuate the ectropion. Depending on the cause, both lids may be involved and the defect may be local (e.g. trauma) or general (e.g. burns, dermatitis and ichthyosis).

Fig. 1.64 Correction of cicatricial ectropion. (A) Preoperative appearance; (B) free-skin graft in place; (C) postoperative appearance

(Courtesy of A Pearson)

Paralytic ectropion

Paralytic ectropion is caused by ipsilateral facial nerve palsy (Fig. 1.65A) and is associated with retraction of the upper and lower lids and brow ptosis; the latter may mimic narrowing of the palpebral aperture.

Fig. 1.65 Paralytic ectropion. (A) Left facial palsy and severe ectropion; (B) lagophthalmos

(Courtesy of A Pearson)

Permanent treatment

Permanent treatment should be considered when there is irreversible damage to the facial nerve as may occur following removal of an acoustic neuroma, or when no further improvement is likely after Bell palsy. Treatment is aimed at reducing the horizontal and vertical dimensions of the palpebral aperture by one of the following procedures:

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1 Medial canthoplasty may be performed if the medial canthal tendon is intact. The eyelids are sutured together medial to the lacrimal puncta (Fig. 1.66A) so that the puncta become inverted and the fissure between the inner canthus and puncta is shortened.

2 Lateral canthal sling may be used to correct residual ectropion and raise the lateral canthus (Fig. 1.66B).

3 Upper eyelid lowering can reduce the risk of exposure.

4 Gold weight implantation in the upper lid can assist closure.

Fig. 1.66 Permanent treatment of paralytic ectropion. (A) Medial canthoplasty; (B) lateral canthal sling – refashioned canthal tendon from the lower lid is passed through a button hole in the tendon from the upper lid

(Courtesy of AG Tyers and JRO Collin, from Colour Atlas of Ophthalmic Plastic Surgery, Butterworth-Heinemann 2001)

Mechanical ectropion

Mechanical ectropion is caused by tumours on or near the lid margin (Fig. 1.67) which mechanically evert the lid. Treatment involves removal of the cause if possible, and correction of significant horizontal lid laxity.

Fig. 1.67 Mechanical ectropion

Involutional entropion

Involutional (age-related) entropion affects mainly the lower lid because the upper has a broader tarsus and is more stable. The constant rubbing of the lashes on the cornea in long-standing entropion (pseudotrichiasis – Fig. 1.68A) may cause irritation, corneal punctate epithelial erosions and, in severe cases, ulceration and pannus formation.

Fig. 1.68 (A) Involutional entropion and pseudotrichiasis; (B) preseptal orbicularis over-riding the pretarsal orbicularis

Treatment

Temporary treatment is with lubricants, taping, soft bandage contact lenses or orbicularis chemodenervation with botulinum toxin injection. Surgical treatment aims to correct the underlying problems as follows:

1 Horizontal lid laxity is usually present and is corrected with a lateral canthal sling or a full-thickness wedge excision.

2 Over-riding and disinsertion

a Transverse everting sutures prevent over-riding of the preseptal orbicularis and provide temporary correction lasting several months (Fig. 1.69).

b Wies procedure gives a longer-lasting correction. It consists of full-thickness horizontal lid-splitting and insertion of everting sutures (Fig. 1.70). The scar creates a barrier between the preseptal and pretarsal orbicularis, and the everting suture transfers the pull of the lower lid retractors from the tarsus to the skin and orbicularis.

c Jones procedure tightens the lower lid retractors, thus increasing their pull and creates a barrier between the preseptal and pretarsal orbicularis (Fig. 1.71). It can be performed as primary treatment but is frequently reserved for recurrences.

Fig. 1.69 Lid everting suture for entropion. (A) Three double armed sutures are passed blow the tarsal plate; (B) sutures are tied; (C) schematic

(Courtesy of AG Tyers and JRO Collin, from Colour Atlas of Ophthalmic Plastic Surgery, Butterworth-Heinemann 2001)

Fig. 1.70 Wies procedure for entropion. (A) Full-thickness incision; (B) sutures are passed through the conjunctiva and lower lid retractors; (C) sutures are passed anterior to the tarsal plate to exit inferior to the lashes; (D) schematic

(Courtesy of AG Tyers and JRO Collin, from Colour Atlas of Ophthalmic Plastic Surgery, Butterworth-Heinemann 2001 – figs A–C).

Fig. 1.71 Jones procedure for entropion. (A) Incision exposes the lower border of the tarsal plate; (B) reflection of the orbital septum and fat pad to expose the lower lid retractors; (C) tightening of retractors by plication; (D) schematic

(Courtesy of AG Tyers and JRO Collin, from Colour Atlas of Ophthalmic Plastic Surgery, Butterworth-Heinemann 2001)

Cicatricial entropion

Varices

Eyelid varices are usually associated with orbital involvement (see Ch. 3). They appear as unilateral dark red or purple lesions subcutaneous lesions which in some cases become apparent only with a Valsalva manoeuvre (Fig. 1.72).

Fig. 1.72 Eyelid varices. (A) Before Valsalva; (B) during Valsalva

(Courtesy of G Rose)

Blepharochalasis

Blepharochalasis is an uncommon condition characterized by recurrent episodes of painless, non-pitting oedema of both upper lids which usually resolves spontaneously after a few days.

Fig. 1.73 Left aponeurotic ptosis and very thin upper lid skin resulting from blepharochalasis.

Floppy eyelid syndrome

Floppy eyelid syndrome is an uncommon unilateral or bilateral condition, which is often misdiagnosed. It typically affects obese middle-aged men who sleep face down with their lids everted by the pillow. Nocturnal exposure and poor contact of the lax lid with the globe in combination with tear film abnormalities result in keratoconjunctivitis.

Fig. 1.74 Floppy eyelid syndrome. (A) Redundant upper lid skin; (B) loose and rubbery tarsal plates; (C) easily everted eyelid; (D) papillary conjunctivitis of the upper tarsal conjunctiva

(Courtesy of J Nerad, K Carter and M Alford, from Oculoplastic and Reconstructive Surgery, in Rapid Diagnosis in Ophthalmology, Mosby 2008 – fig. B; S Tuft – fig. C)

Eyelid imbrication syndrome

Eyelid retraction

Lid retraction is suspected when the upper lid margin is either level with or above the superior limbus (Fig. 1.75A); the causes are listed in Table 1.5.

Fig. 1.75 (A) Left lid retraction in thyroid eye disease; (B) following eyelid lowering procedure

(Courtesy of A Pearson)

Table 1.5 Causes of lid retraction

Fig. 1.76 Causes of lid retraction. (A) Unilateral myasthenic ptosis with contralateral lid retraction; (B) Collier sign; (C) ‘setting sun’ sign in infantile hydrocephalus; (D) Parkinsonism

(Courtesy of R Bates– fig. C)

Involutional changes

The following involutional (age-related) changes around the eyes can lead to both functional and cosmetic concerns that may require treatment:

Non-surgical techniques

Surgical techniques

Upper eyelid blepharoplasty

1 Upper eyelid involutional changes are characterized by surplus upper eyelid skin (dermatochalasis) that leads to baggy lids with indistinct creases and pseudo-ptosis. It may cause a heavy sensation around the eyes, brow ache and, in more advanced cases, obstruction of the superior visual field (Fig. 1.77A).

2 Upper eyelid blepharoplasty (Fig. 1.77B) is effective for removal of surplus upper eyelid skin and can be combined with reduction of the superior orbital fat pads. Care must be taken prior to surgery to look for ptosis of the eyelid or eyebrow and ocular surface dryness.

3 Complications include removal of excess skin leading to lagophthalmos and corneal drying, and removal of excess orbital fat leading to an unattractive hollowed out upper eyelid sulcus.

Fig. 1.77 (A) Severe dermatochalasis causing reduction of upper visual field; (B) appearance following surgery

(Courtesy of A Pearson)

Lower eyelid blepharoplasty

1 Lower lid involutional changes are characterized by excess skin and/or prolapsed orbital fat (Fig. 1.78A).

2 Lower lid blepharoplasty can address these problems (Fig. 1.78B). Where there is excess skin an anterior approach is used to raise a skin/muscle flap which can be lifted and re-draped on the lid with the surplus removed. At the same time the inferior orbital fat pads can be reduced by a small incision through the septum. Bulging of the lower eyelid fat pads without eyelid laxity or surplus skin is best reduced by a posterior, transconjunctival approach.

3 Complications include lower eyelid retraction, contour abnormalities (particularly lateral drooping), or frank ectropion.

Fig. 1.78 (A) Mild dermatochalasis and excess lower lid skin; (B) appearance following upper and lower lid blepharoplasty

(Courtesy of A Pearson)

Brow ptosis correction

1 Brow ptosis frequently accompanies dermatochalasis (Fig. 1.79A) and may also follow facial nerve palsy or localized trauma. Lifting of the brow needs to precede or occasionally be combined with upper eyelid blepharoplasty.

2 Techniques of brow-lift include:

• Direct brow-lift in which an incision is made above the eyebrow hairs and an ellipse of skin removed (Fig. 1.79B).

• Endoscopic brow-lift in which small incisions within the hair-line enable endoscopic elevation of the whole forehead tissues and release at the eyebrow periosteum to allow lifting of the eyebrows through sutures supported on frontal bone anchors within the hair-line.

Fig. 1.79 (A) Right brow ptosis and dermatochalasis; (B) following a direct brow-lift procedure

(Courtesy of A Pearson)

Epicanthic folds

Epicanthic folds are bilateral vertical folds of skin that extend from the upper or lower lids towards the medial canthi. They may give rise to a pseudoexotropia.

Fig. 1.80 Epicanthic folds. (A) Palpebralis; (B) tarsalis; (C) inversus; (D) V-Y plasty

(Courtesy of R Bates – fig. D)

Telecanthus

Telecanthus is an uncommon condition that may occur in isolation or in association with blepharophimosis syndrome.

Fig. 1.81 Telecanthus

Blepharophimosis ptosis and epicanthus inversus syndrome

Fig. 1.82 Blepharophimosis ptosis and epicanthus inversus syndrome

Epiblepharon

Epiblepharon is very common in Orientals and should not be confused with the much less common congenital entropion.

Fig. 1.83 (A) Epiblepharon; (B) lashes pointing upwards; (C) normal position of lashes following manual correction

Fig. 1.84 Hotz procedure. (A) Incision marks on the medial two-thirds of the eyelid; (B) skin sutures passed deeply through the inferior tarsal border; (C) skin crease created by the sutures

(Courtesy of AG Tyers and JRO Collin, from Colour Atlas of Ophthalmic Plastic Surgery, Butterworth-Heinemann 2001)

Congenital entropion

Lower lid entropion

Lower lid entropion is caused by improper development of the inferior retractor aponeurosis.

1 Signs

• Inturning of the entire lower eyelid and lashes with absence of the lower lid crease (Fig. 1.85).

• When downward pressure is applied to the lid, the entire length pulls away from the globe.

2 Treatment involves the excision of a strip of skin and muscle, and fixation of the skin crease to the tarsal plate (Hotz procedure).

Fig. 1.85 Congenital entropion

Coloboma

A coloboma is an uncommon, unilateral or bilateral, partial or full-thickness eyelid defect. It occurs when eyelid development is incomplete, due to either failure of migration of lid ectoderm to fuse the lid folds, or to mechanical forces such as amniotic bands.

Fig. 1.86 (A) Upper lid colobomas; (B) lower lid colobomas in Treacher Collins syndrome

(Courtesy of U Raina – fig. A)

Treacher Collins syndrome

Treacher Collins syndrome (mandibulofacial dysostosis)is characterized by malformation of derivatives of the first and second branchial arches.

1 Inheritance is AD with high penetrance and variable expressivity, although 60% of cases occur with no family history and are thought to arise by de novo mutation. The gene involved is the ‘treacle’ gene TCOF1 on chromosome 5q.

2 Systemic features

• Bilateral hypoplasia of the mandible and zygoma and beaked nose (Fig. 1.87)

• Micrognathia and malformed ears

• Conductive deafness.

3 Ocular features

• Extorted slanting of the palpebral apertures

• Colobomas of the lateral lower eyelids

• Cataract

• Microphthalmos

• Atresia of the lacrimal passages.

Fig. 1.87 Treacher Collins syndrome

Euryblepharon

Fig. 1.88 Euryblepharon

(Courtesy of D Taylor and C Hoyt, from Pediatric Ophthalmology and Strabismus, Elsevier 2005)

Microblepharon

Microblepharon is characterized by small eyelids, often associated with anophthalmos (Fig. 1.89).

Fig. 1.89 Microblepharon associated with anophthalmos

Ablepharon

Fig. 1.90 (A) Ablepharon; (B) following reconstruction – note enlarged fish-like mouth

(Courtesy of D Taylor and C Hoyt, from Pediatric Ophthalmology and Strabismus, Elsevier 2005 – fig. A; H Mroczkowska – fig. B)

Cryptophthalmos

Fig. 1.91 Cryptophthalmos. (A) Complete; (B) incomplete

(Courtesy of D Meyer – fig. A)

Congenital upper lid eversion

Congenital upper lid eversion is a rare condition more frequently seen in infants of Afro-Caribbean origin, in Down syndrome and in congenital ichthyosis (collodion skin disease – Fig. 1.92). It is typically bilateral and symmetrical. It may either resolve spontaneously with conservative treatment or may require surgery.

Fig. 1.92 Congenital upper lid eversion in a patient with collodion skin disease

(Courtesy of D Meyer)

Ankyloblepharon filiforme adnatum

Fig. 1.93 Ankyloblepharon filiforme adnatum

(Courtesy of D Taylor and C Hoyt, from Pediatric Ophthalmology and Strabismus, Elsevier 2005)