Systemic Lupus Erythematosus
Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by autoantibodies, immune complex formation, and immune dysregulation resulting in damage to essentially any organ, including the kidney, skin, blood cells, and the CNS. The natural history of this illness is unpredictable; patients may present with many years of symptoms or with acute life-threatening disease. Because of its protean manifestations, lupus must be considered in the differential diagnosis of many problems, including fevers of unknown origin, arthralgia, anemia, nephritis, psychosis, and fatigue. Early diagnosis and careful treatment tailored to individual patient symptoms has improved the prognosis from what was once perceived as an often fatal disease.
Etiology
The specific cause of SLE remain undefined. Research suggests that many factors, including genetics, hormones, and the environment (e.g. sunlight, drugs), contribute to the immune dysregulation observed in lupus. In lupus, greater production of autoantibodies leads to immune complex formation and tissue damage due to direct binding and/or immune complex deposition in tissues. Whether these antibodies are produced in reaction to exposure of normally nonexposed self-antigens or as a consequence of a broad spectrum of immune dysregulation resulting in excessive production of many antibodies without regard to prior stimulation is unclear. Patients with SLE produce autoantibodies against DNA, other nuclear antigens, ribosomes, platelets, erythrocytes, leukocytes, and other tissue-specific antigens. Thus, the resulting immune complexes result in widespread tissue damage. Cell-mediated autoimmune responses also play a pathophysiologic role.
Clinical Features
Systemic lupus erythematosus is a serious cutaneous-systemic disorder which characteristically manifests repeated remissions and exacerbations. This disease has its peak age of onset at about 30 years in females but about 40 years in males. The disease may occur in childhood as reported by Jacobs. Prevalence rates are higher in females than in males. A female-to-male ratio of approximately 2 : 1 occurs before puberty, and a ratio of 4 : 1 occurs after puberty.
The cutaneous lesions consist of erythematous patches on the face which coalesce to form a roughly symmetrical pattern over the cheeks and across the bridge of the nose in a so-called butterfly distribution (Fig. 19-31). Also involved are the neck, upper arms, shoulders and fingers. These lesions may present itching or burning sensations as well as areas of hyperpigmentation. The acute erythematous patches either arise on previously uninvolved skin or develop in old chronic lesions. Their severity is intensified by exposure to sunlight.
The generalized manifestations of the systemic disease are referable to involvement of various organs, including the kidney and heart. In the kidney, fibrinoid thickening of glomerular capillaries occurs, producing the characteristic ‘wire loops,’ which may be sufficient to result in renal insufficiency. The heart may suffer from an atypical endocarditis involving the valves, as well as fibrinoid degeneration of the epicardium and myocardium. The widespread tissue involvement and the nature of the lesions have led to the inclusion of this disease in that group known as the ‘collagen diseases,’ which also includes rheumatic fever, rheumatoid arthritis, polyarteritis nodosa, scleroderma and dermatomyositis.
Oral Manifestations
Oral mucous membrane involvement is reported in 20–50% of cases of discoid lupus erythematosus, and slightly more frequently in the systemic form of the disease, according to Andreasen. With the oral mucous membranes affected in such a high percentage of cases, the dentist must be aware of this problem. The oral mucosa reportedly may be involved either prior to or following the development of skin lesions or even in the absence of skin manifestations.
Oral lesions are found in systemic lupus erythematosus. These are very similar to those found in discoid lupus except that hyperemia, edema and extension of the lesions is sometimes more pronounced, and there may be a greater tendency for bleeding, petechiae and superficial ulcerations which are surrounded by a red halo as a result of localized telangiectasis. Superimposed oral moniliasis as well as xerostomia have also been reported.
Sugarman pointed out that great variation in the oral lesions exists and that these frequently simulate other diseases, chiefly leukoplakia and lichen planus. For this reason, diagnosis based upon the clinical appearance of the oral lesions should not be encouraged. In fact, it has been stressed by Schiodt and his coworkers in a long-term follow-up study of 52 patients with discoid lupus erythematosus that those oral lesions which had undergone a transition into the leukoplakia-like lesions over a period of time even showed histopathologic and immunopathologic features similar to leukoplakia not preceded by lupus erythematosus.
Histologic Features
The histologic appearance of systemic lupus erythematosus and discoid lupus erythematosus is similar, differing only in the degree of certain of the findings. According to Lever, discoid lupus erythematosus of the skin is characterized by hyperkeratosis with keratotic plugging, atrophy of the rete pegs, liquefaction, degeneration of the basal layer of cells, perivascular infiltration of lymphocytes and their collection about dermal appendages, and basophilic degeneration of collagen and elastic fibers, with hyalinization, edema and fibrinoid change, particularly prominent immediately beneath the epithelium. Not all features are invariably present in each case, however. In the systemic form of the disease the cutaneous lesions are similar in appearance, although the degenerative features and collagen disturbance are usually more prominent and the inflammatory features less severe. The histologic appearance of the tissue from a cutaneous lesion of any type of lupus erythematosus is not pathognomonic of the disease, but is certainly suggestive.
The histologic findings in oral lesions of both discoid and systemic lupus erythematosus have been described in detail by Andreasen and Poulsen. Shklar and McCarthy have also discussed the histopathology of the oral lesions in 25 cases and concluded that it is sufficiently characteristic that a definitive diagnosis can be made. In the discoid form, the lesions exhibit hyperorthokeratosis and/or hyperparakeratosis alternating with areas of epithelial atrophy. In the majority of cases, keratotic plugging down into the spinous layer, acanthosis and pseudoepitheliomatous hyperplasia are present. Hydropic degeneration and liquefaction necrosis of the basal cell layer also invariably occur as well as subepithelial vesiculation or ulceration (Fig. 19-32). In most cases, a thickening of the basement membrane can be demonstrated as a homogeneous, broad, eosinophilic and PAS-positive acellular band. Finally, there is a diffuse infiltrate of lymphocytes with smaller numbers of plasma cells and occasional polymorphonuclear leukocytes in superficial and deep connective tissue. This is quite reminiscent of that seen in lichen planus. Small focal perivascular collections of lymphocytes are found also, as well as degeneration and disintegration of collagen.
The systemic form of lupus exhibits histologic changes in the oral lesions that are virtually identical to those in the discoid type with the possible exception of the absence of keratinization.
Direct immunofluorescent testing is often used to confirm a suspected diagnosis of lupus erythematosus. It is basically a test used to detect the presence of immunoglobulins (IgG, IgM and IgA) at the epidermal-dermal junction or basement membrane zone of skin or oral mucosa of patients with the disease by incubating a biopsy specimen (either frozen section or one specially fixed in Michel solution) with a fluorescein-conjugated antiglobulin. The appearance of the immunoglobulins deposited in this location in discoid lupus generally is the ‘particulate’ (or ‘speckled’) pattern. These immunoglobulins were present at this specific histologic location in oral lesions in all patients with the systemic form and in nearly 75% of patients with the discoid form in a series of 52 patients with lupus erythematosus reported by Schiodt and his associates in 1981. They also found a high incidence of complement C3 and of fibrinogen at this same zone utilizing appropriate conjugates. Interestingly, these immunoglobulins may also be demonstrated in the uninvolved skin and mucosa of a significant percentage of patients with systemic lupus, as well as in lesional skin or mucosa, but almost never in normal or uninvolved skin or mucosa of discoid patients. In a retrospective study of 130 cases of oral mucosal disease by direct immunofluorescence technique, Daniels and Quadra-White have concluded that this can provide a valuable criterion in diagnosing chronic ulcerative or erosive disease of the oral mucosa if the biopsy specimens are taken from appropriate sites and have attached epithelium.
Laboratory Findings*
Routine clinical tests which suggest that the person has an active systemic disease include:
1. Sedimentation rate (ESR) and CRP (C-reative protein) binding, both of which are frequently elevated in inflammation from any cause.
2. Serum protein electrophoresis which may reveal increased gammaglobulin and decreased albumin.
3. Routine blood counts which may reveal anemia and low platelet and white cell counts.
These abnormalities alert to the presence of a systemic disease with multiple organ involvement.
Commonly used blood tests in the diagnosis of SLE are:
1. Antinuclear antibody test (ANA) to determine if autoantibodies to cell nuclei are present in the blood
2. Anti-DNA antibody test to determine if there are antibodies to the genetic material in the cell
3. Anti-Sm antibody test to determine if there are antibodies to Sm, which is a ribonucleoprotein found in the cell nucleus
4. Serum (blood) complement test to examine the total level of a group of proteins which can be consumed in immune reactions
5. Complement proteins C3 and C4 test to examine specific levels.
The immunofluorescent antinuclear antibody (ANA, or FANA) test is positive in almost all individuals with SLE (97%), and is the most sensitive diagnostic test currently available for confirming the diagnosis of SLE when accompanied by typical clinical findings. However, a positive ANA test, by itself, is not proof of lupus since the test may also be positive in other connective tissue diseases, such as, scleroderma, Sjogren's syndrome, rheumatoid arthritis, thyroid diseases, liver diseases, juvenile arthritis and in individuals being treated with certain drugs like procainamide, hydralazine, isoniazid, chlorpromazine, etc. in viral illnesses, such as, infectious mononucleosis, in other chronic infections such as, hepatitis, lepromatous leprosy, subacute bacterial endocarditis, malaria, etc. in other autoimmune diseases, including thyroiditis, multiple sclerosis, etc. and in as many as 30–40% of asymptomatic first-degree relatives of people with lupus.
Other Autoantibodies
• Antibodies to DNA are found primarily in SLE.
• Antibodies to histones (DNA packaging proteins) are usually found in people with drug induced lupus (DIL), but may also be found in those with SLE.
• Antibodies to the Sm antigen are found almost exclusively in lupus, and often help to confirm the diagnosis of SLE.
• Antobodies to RNP (ribonucleoprotein) are found in a number of connective tissue diseases. When present in very high levels, RNP antibodies are suggestive of mixed connective tissue disease (MCTD), a condition with symptoms like those of SLE, polymyositis, and scleroderma.
• Antibodies to Ro/SS-A are found in people with either lupus or Sjogren's syndrome, and are almost always found in babies who are born with neonatal lupus.
• Antibodies to Jo-1 are associated with polymyositis.
• Antibodies to PM-Scl are associated with certain cases of polymyositis that also have features of scleroderma.
• Antobodies to centromere (structure involved in cell division) are found in people with a limited form of scleroderma which tends to have a chronic course.
Complement
Laboratory tests which measure complement levels in the blood may also be helpful in making a diagnosis of SLE. The most common complement tests are C3, C4, and CH50 (total hemolytic complement). If the total blood complement level is low, or the C3 or C4 complement values are low and the person also has a positive ANA, the findings are more suggestive of lupus. Low C3 or C4 complement levels with a positive ANA may signify the presence of active disease.
Treatment
The most important tool in the medical care of the patient with SLE is careful and frequent clinical and laboratory evaluation to tailor the medical regimen and to provide prompt recognition and treatment of disease flare, which is the cornerstone of successful intervention. Lupus is a lifelong illness, and patients must be monitored indefinitely. SLE is a high-risk disease with the possibility of end-organ damage to any organ, vital or otherwise. This damage can severely affect organ function and can lead to decreased quality of life.
Discoid Lupus Erythematosus
Discoid lupus erythematosus (DLE) is a chronic, scarring, atrophy producing, photosensitive dermatosis. DLE may occur in patients with systemic lupus erythematosus (SLE), and some patients (<5%) with DLE progress to SLE. Serologic abnormalities are uncommon. Patients with DLE rarely have clinically significant systemic disease. Lesions may produce scarring or atrophy. Scarring alopecia is particularly disturbing.
Etiology
DLE probably occurs in genetically predisposed individuals, but the exact genetic connection has not been determined. The pathophysiology of DLE is not well understood. It has been suggested that a heat shock protein is induced in the keratinocyte following ultraviolet (UV) light exposure or stress, and this protein may act as a target for T-cell-mediated epidermal cell cytotoxicity.
Clinical Features
Discoid lupus erythematosus is a relatively common disease which, like the systemic form, occurs predominantly in the third and fourth decades. It is also considerably more common in women than in men. Although any skin area may be involved by the discoid form of lupus erythematosus, the most common sites are the face (Fig. 19-33), oral mucous membranes, chest, back and extremities.
The typical cutaneous lesions are slightly elevated red or purple macules that are often covered by gray or yellow adherent scales. Forceful removal of the scale reveals numerous ‘carpet tack’ extensions which had dipped into enlarged pilosebaceous canals. The lesions increase in size by peripheral growth, this feature partially characterizing the disease. The periphery of the lesion appears pink or red, while the center exhibits an atrophic, scarred appearance indicative of the long-standing nature of the disease with characteristic central healing. The discoid form of the disease may also assume a typical ‘butterfly’ distribution on the malar regions and across the bridge of the nose. Since this is not a constant feature of the disease and since a similar distribution of lesions may occur in certain other diseases, its diagnostic significance should not be overemphasized.
Epidermoid carcinoma, and less commonly, basal cell carcinoma have been reported developing in healed scars of discoid lupus. This is only an occasional finding, and is thought to occur only in cases of 20 years duration or more.
Oral Manifestations
Oral mucous membrane involvement is reported in 20–50% of cases of discoid lupus erythematosus, and slightly more frequently in the systemic form of the disease, according to Andreasen. With the oral mucous membranes affected in such a high percentage of cases, the dentist must be aware of this problem. The oral mucosa reportedly may be involved either prior to or following the development of skin lesions or even in the absence of skin manifestations.
The oral lesions in the discoid form begin as erythematous areas, sometimes slightly elevated but more often depressed, usually without induration and typically with white spots. Occasionally, superficial, painful ulceration may occur with crusting or bleeding but no actual scale formation as is seen on the skin (Figs. 19-34, 19-35). The margins of the lesions are not sharply demarcated but frequently show the formation of a narrow zone of keratinization. Often, fine white striae radiate out from the margins. Central healing may result in depressed scarring. These lesions, which were symptomatic in 75% of a group of 32 patients with oral manifestation described by Schiodt and his associates, are most common on the buccal mucosa, palate and tongue. In the case of the tongue, atrophy of the papillae and severe fissuring are also seen. The vermilion border of the lips, particularly the lower, is a very common site for these lesions. The erythematous, atrophic plaques, surrounded by a keratotic border, may involve the entire lip and extend onto the skin surface. Malignant transformation of these lip lesions occurs with some frequency, and the reported cases have been reviewed by Andreasen.
Treatment
The goals of management are to improve the patient's appearance, to control existing lesions and limit scarring, and to prevent the development of further lesions. The prognosis of patients with chronic DLE is favorable regarding mortality; however, many patients continue to experience pain in their lesions or may experience disfigurement from the scars or atrophy that can develop.
Systemic Sclerosis: (Scleroderma, dermatosclerosis, hidebound disease)
Systemic sclerosis (SSc) is a systemic connective tissue disease, characterized by vasomotor disturbances; fibrosis; subsequent atrophy of the skin, subcutaneous tissue, muscles, and internal organs (e.g. alimentary tract, lungs, heart, kidney, CNS); with associated immunologic disturbances.
Etiology
Systemic sclerosis is an autoimmune disease of unclear etiology; however, different factors, including genetic, environmental, and vascular factors are involved in SSc pathogenesis. One theory states that antigens from the human leukocyte antigen (HLA) histocompatability complex, including HLA-B8, HLA-DR5, HLA-DR3, HLA-DR52, and HLA-DQB2, are involved in SSc. Some data suggest that apoptosis and the generation of free radicals may be involved in the pathogenesis of SSc. Increased collagen deposition in tissues is a characteristic feature of SSc.
Clinical Features
Progressive systemic sclerosis is a disease characterized by the ultimate induration of the skin and fixation of the epidermis to the deeper subcutaneous tissues. It may begin in children or young adults, although the greatest incidence is between 30 and 50 years of age, and exhibits a definite gender predilection, females being affected more frequently then males (3-6:1). Systemic sclerosis usually begins on the face, hands or trunk. Simultaneously with the development of the early typical indurated edema of the skin, neuralgia and paresthesia may occur as well as arthritis or simply vague joint pain. Erythema usually accompanies this cutaneous change. The disease progresses at a variable rate, but eventually much, if not all, of the body surface becomes involved. The skin takes on a yellow, gray or ivory-white waxy appearance. Brown pigmentation of the skin may also occur, but this is usually a late manifestation of the disease. Sometimes deposition of calcium in affected areas is also found. The skin becomes hardened and atrophic and cannot be wrinkled or picked up because of its firm fixation to the deep connective tissue. This contracture of the skin gives a mask-like appearance to the face (Fig. 19-36) and a claw-like appearance to the hands (Figs 19-37, 19-38).
Figure 19-36 Progressive systemic sclerosis.
Characterized by induration of the skin and fixation of the epidermis with the deeper subcutaneous connective tissue.
Progressive diffuse systemic sclerosis may ultimately involve many internal organs by fibrosis, loss of smooth muscle and loss of visceral function. Those organs most frequently involved are the gastrointestinal tract, lungs cardiovascular-renal system, musculoskeletal system, and central nervous system.
One variant of systemic sclerosis is the CREST syndrome, an acronym of the five major findings: calcinosis cutis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly and telangiectasia. This form of the disease is sometimes not as severe as the usual systemic type.
Circumscribed scleroderma, commonly termed morphea, is manifested by the appearance of one or more well-defined, slightly elevated or depressed cutaneous patches, which are white or yellowish and are surrounded by a violaceous halo. The plaques are varied in both size and shape. The lesions commonly occur on the sides of the chest and the thighs.
Occasionally the lesions occur as linear bands or ribbons on the face, particularly the forehead, on the chest and trunk or on an extremity. This has been termed linear scleroderma. Such a band, made up of a furrow with an elevated ridge on one side, is often termed a coup de sabre, since it resembles the mark produced by the blow of a saber. The circumscribed lesions eventually become stiff and hard. It has been reported that facial hemiatrophy is associated with this form of the disease occurring in children. The lesions are generally asymptomatic, although prickling, tingling and itching sensations have been described. The disease may persist for several months to many years, but, in this form, causes no deaths.
Oral Manifestations
The tongue, soft palate and larynx are the intraoral structures usually involved in progressive systemic sclerosis. Early mild edema of these structures is gradually followed by atrophy and induration of mucosal and muscular tissues. The tongue often becomes stiff and board like, causing the patient difficulty in eating and speaking (Fig. 19-39). The gingival tissues are pale and unusually firm.
The lips become thin, rigid and partially fixed, producing microstomia. Dysphagia, a choking sensation, inability to open and close the mouth and difficulty in breathing also occur. The reduced opening of the mouth and fixation of the jaw are a result of involvement of the peritemporomandibular joint tissues, and make dental care very difficult. Limitation of mouth opening was found in 80% of a series of these patients by Marmary and his coworkers. Both Smith and Wade also have reviewed this disease with particular emphasis on the oral manifestations.
In addition, Alarcon-Segovia and his coworkers, studying 25 patients with progressive systemic sclerosis, found that all had pathologic changes in the minor salivary glands characteristic of Sjögren's disease: lymphocyte infiltration, duct cell proliferation and collagen infiltration. Weisman and Calcaterra also reported evidence of alterations of salivary gland function characteristic of the sicca syndrome in 12% of 71 patients with scleroderma.
Radiographic Features
Extreme widening of the periodontal ligament, two to four times normal thickness, has been reported originally by Stafne and Austin as characteristic of scleroderma (Fig. 19-40). This may be so striking that, once the association is recognized, the occurrence of the periodontal disturbance as found on routine dental radiographs may be sufficient to establish a tentative diagnosis of systemic sclerosis. This has been confirmed by many studies such as those of White and his coworkers and of Marmary and his associates.
Figure 19-40 Systemic sclerosis.
The extreme widening of the periodontal ligament is obvious in the dental radiograph Courtesy of Dr Edward C Stafne.
Bone resorption of the angle of the mandibular ramus, usually bilaterally, has also been reported by numerous investigators as occurring frequently in this disease. One additional radiographic feature reported has been partial or complete resorption of condyles and/or coronoid processes of the mandible.
Histologic Features
Diffuse systemic sclerosis is characterized microscopically by thickening and hyalinization of the collagen fibers in the skin, the loss of dermal appendages, particularly the sweat glands, and atrophy of the epithelium with loss of rete pegs and increased melanin pigmentation. There is an increase in PAS-positive, diastase-resistant material present in the areas of the homogeneous collagen. Subcutaneous fat disappears, and the walls of the blood vessels become sclerotic. Mucous membrane changes are similar to those occurring in the skin.
The microscopic changes in the periodontal ligament consist of a widening due to an increase of collagen and oxytalan fibers as well as an appearance of hyalinization and sclerosis of collagen with a diminution in the number of connective tissue cells usually found. These changes have been described by Fullmer and Witte.
Ehlers-Danlos Syndrome: (Tenascin-X deficiency syndrome, lysyl hydroxylase deficiency syndrome, cutis hyperelastica)
Ehlers-Danlos syndrome (EDS) is the name given to a group of more than 10 different inherited disorders; all involving a genetic defect in collagen and connective-tissue synthesis and structure. EDS can affect the skin, joints, and blood vessels. This syndrome is clinically heterogeneous; the underlying collagen abnormality is different for each type. Clinical recognition of the types of EDS is important. One type, type IV, is associated with arterial rupture and visceral perforation, with possible life-threatening consequences.
Etiology
Ehlers-Danlos syndrome is a heterogeneous group of inherited connective-tissue disorders characterized by joint hypermobility, cutaneous fragility, and hyperextensibility. The collagen defect has been identified in only six of the 11 types of EDS.
Clinical Features
The characteristic clinical features of this disease are the hyperelasticity of skin, hyperextensibility of the joints, and fragility of the skin and blood vessels resulting in excessive bruising as well as defective healing of skin wounds (Fig. 19-41). However, there may be considerable variation in the clinical manifestations depending upon the type of the syndrome present in the patient (Table 19.1). For example, hyperextensibility of skin and joints is striking in EDS I and EDS III but very limited in EDS II and EDS IV. EDS IV is often called the ecchymotic type, since rupture of even large arteries as well as the intestine often occurs, producing a life-threatening situation. In instances in which the skin extensibility is pronounced, the patient has become known as the circus rubber man (Fig. 19-42). The facies are frequently distinctive with hypertelorism, a wide nasal bridge and epicanthic folds being common features. Protruding ears and frontal bossing are often present. Freely movable subcutaneous nodules are frequently found, and these appear to represent fibrosed lobules of fat. The scarring of the skin following wound healing in these patients is unusual inasmuch as the scars tend to spread rather than contract in time.
Table 19-1
Classification of Ehlers-Danlos syndrom
aAD Autosomal dominant;
bAR Autosomal recessive;
cXL Chromosome X-linked
Approximate percentage including all other types (V-XI, Hernandez, Friedman-Harrod, Beasley-Cohen, Viljoen.
Oral Manifestations
The oral manifestations of this disease have been described in detail by Barabas and Barabas. In their series of cases, they found that the oral mucosa was of normal color but was excessively fragile and bruised easily. Although the mucosa did not hold sutures satisfactorily, healing was only slightly retarded and there was no defective scar formation. No remarkable hyperextensibility of mucous membrane could be demonstrated, and the patients had no difficulty in wearing dentures. The gingival tissues appeared fragile and bled after toothbrushing, gingival hyperplasia and fibrous nodules were also noted. Tooth mobility was not increased.
Hypermobility of the temporomandibular joint, resulting in repeated dislocations of the jaw, has been reported.
Alterations in the structure of the teeth have also been reported by Barabas and these consist of a lack of normal scalloping of the dentinoenamel junction, the passage of many dentinal tubules into the enamel, the formation of much irregular dentin and an increased tendency to form pulp stones. Hypoplastic changes in the enamel have also been reported, the teeth have been reported to be fragile and have a tendency for fracture.
Several families have also been reported with apparent Ehlers-Danlos syndrome with extensive periodontal destruction. This has been reviewed by Linch and Action, who described an additional case.
Histologic Features
Histologic study of skin and connective tissues by routine techniques generally fails to reveal any characteristic or diagnostic abnormality. Ultrastructural changes in collagen have been reported in some forms of the disease, according to Byers and his associates.
Treatment
There is no known treatment for the disease. Surgical procedures should be carried out with care because difficulty in suturing and healing problems may exist. With the exception of EDS type IV, all the other variants of this syndrome are not too dangerous, and affected individuals can live a normal life with a few restrictions.
Focal Dermal Hypoplasia Syndrome: (Goltz's syndrome)
Focal dermal hypoplasia (FDH) is an uncommon genetic disorder characterized by distinctive skin abnormalities and a wide variety of defects that affect the eyes, teeth, and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous system. The name is somewhat of a misnomer because the skin lesions appear to evolve as accumulations of fat rather than hypoplasia of the dermis. The mnemonic FOCAL can be used to remember some of the key features of this syndrome: Female sex; Osteopathia striata; Coloboma; Absent ectodermis-, mesodermis-, and neurodermis-derived elements; and Lobster claw deformity. Affected individuals are recognized at birth or prenatally, but cases involving a minor expression of the syndrome may be diagnosed later. Focal dermal hypoplasia is also known as Goltz syndrome; this is not to be confused with Gorlin or Goltz-Gorlin syndrome, which is also known as basal cell nevus syndrome.
Etiology
Focal dermal hypoplasia has an X-linked dominant inheritance pattern and is usually lethal in males. The underlying molecular defect in FDH is not clear. On the basis of common findings of syndactyly, oligodactyly, and polydactyly, the fetal expression of FDH is postulated to occur before the eighth week of gestation; by the eighth week, the hands and feet have differentiated and developed separate and elongated digits.
Clinical Features
The syndrome is characterized by relative focal absence of the dermis associated with herniation of the subcutaneous fat into the defects; skin atrophy, streaky pigmentation and telangiectasia; multiple papillomas of the mucosa and/or skin; anomalies of the extremities including syndactyly, polydactyly and adactyly; an asymmetrical face with pointed chin and notched nasal alae, asymmetrical ears; sunken eyes with sparse eyebrows and scalp hair; eye anomalies, most frequently iris and choroid colobomata and strabismus; and dental and oral anomalies. Mental retardation is often present as is some retardation of physical growth. In addition, many other anomalies have also been reported with varying frequency.
Oral Manifestations
Papillomas of the lips have been a striking feature in a number of these patients as well as papillomas of the buccal mucosa or gingiva. In addition, the teeth are commonly defective in size, shape or structure. Microdontia is a common finding as is enamel hypoplasia. Cleft lips/cleft palate has also been described in several cases. Details of the disease have been discussed by Gorlin and his associates.
Histologic Features
The atrophic reticulated patches of skin reveal attenuation of dermal collagen fibers with partialto-complete absence of significant portions of the dermis. An accompanying change is the appearance of adipose cells in the dermis. In mild cases, adipocytes may be noted only around blood vessels; in severe cases, they may replace all or part of the dermal connective tissue. A layered effect sometimes occurs, with attenuated collagenous connective tissue lying both above and beneath an adipose layer. If the accumulation of adipose tissue is pronounced, it may cause the apparent herniation of subcutaneous tissue through the thinned skin. The papillomatous lesions typically consist of a fibrovascular stalk composed of loose connective tissue with dilated vessels and a variable perivascular admixture of inflammatory cells.
Solar Elastosis: (Senile elastosis, actinic elastosis)
Solar elastosis is a dermatologic disease which is essentially a degenerative condition of skin associated with the general process of aging which itself may be influenced by hereditary factors including skin coloration or pigmentation or its absence, and exposure to the elements, especially sunlight and wind. Such skin, damaged by prolonged exposure to elements of the weather, has often been termed sailor's skin or farmer's skin. It is interesting that this disease, though common, has not been widely reported.
Clinical Features
This disturbance seldom occurs on the oral mucous membranes, but does involve the lip with considerable frequency. Although not confined to elderly patients, it is most common in this age group. The affected skin is wrinkled and appears dry, atrophic and flaccid. On the lip there may be mild keratosis and subtle blending of the vermilion with the skin surface.
Histologic Features
The chief microscopic characteristic is the apparent increase in the amount of elastic connective tissue fibers, a phenomenon that is best observed by special stains. In routine hematoxylin and eosin stained sections, the connective tissue may appear hyalinized, but it stains with hematoxylin rather than with eosin, and this has been termed basophilic degeneration.
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