[Elastolysis of the eyelids. A rare cause of ptosis]. / Elastolyse der Lider. Seltene Ursache einer Ptosis.

BACKGROUND: Mid-dermal elastolysis is a rare disorder of elastic tissue which is characterized clinically by wrinkling of the skin and histologically by the selective absence of elastic fibers in the mid dermis. Two patients with severe ptosis and a loss of the lateral tarsal suspension are reported. PATIENTS AND METHODS: A 36-year-old male patient presented with bilateral ptosis, skin atrophy of the eyelids and a loss of lateral tarsal suspension. With normal clinical and routine laboratory investigations, punch biopsy revealed clear signs of mid-dermal elastolysis. Plastic surgery of both eyelids (levator advancement) was performed with good success after a 1-year interval without progression of ptosis. Another 37 year old patient suffered from mild ptosis, skin atrophy of the eyelids and a loss of lateral tarsal suspension. As the patient chose not to have surgical treatment, he was treated with oral corticosteroids. To differentiate between an acute and a chronic type of elastolysis a punch biopsy is required. In addition, we want to highlight the surgical option in chronic and non-progressive cases. CONCLUSIONS: In contrast to formerly reported localized forms of acute acquired cutis laxa with complete loss of elastic fibres in the reticular and papillary dermis, we report a chronic type of elastolysis in these patients. In our experience in cases without any apparent progression of symptoms a surgical repair can provide long-term success.

[Unilateral blepharochalasis with IgA-deposits]. / Unilaterale Blepharochalasis mit läsionalen IgA-Ablagerungen.

A 36-year-old male patient presented with unilateral periocular skin atrophy. The blepharochalasis developed without any obvious inflammation of the eyelids over the past 10 years. Interestingly, elongated blood vessels and microaneurysmatic vessel changes were found in the tarsal conjunctiva. A punch biopsy revealed a nearly complete loss of elastic fibres in the papillary and superficial reticular dermis. The contralateral side was histopathologically normal. On immunohistology IgA-deposits could be observed especially on perifollicular elastic fibres. Immunoelectronmicroscopy confirmed the diagnosis and suggested fibulin and fibronectin as potential binding sites for the autoantibodies. This further report of elastolysis in association with IgA-autoantibodies defines the autoantibody binding site in more detail and suggests that the immune mechanisms may also play a role in vessel changes of the conjunctiva.

Concordance between telepathologic diagnosis and conventional histopathologic diagnosis: a multiobserver store-and-forward study on 20 skin specimens.

OBJECTIVE: To study the validity and feasibility of transferring images of cutaneous biopsy specimens via e-mail to remote physicians active in dermatopathology for teleconsultation. DESIGN: Twenty skin specimens previously diagnosed at the Department of Dermatology, University of Graz, Austria, were subsequently sent for teleconsultation using the store-and-forward method. For each case, 3 or 4 images at different magnifications were sent by e-mail to 16 colleagues (11 dermatopathologists and 5 pathologists) in 15 centers in 6 different countries. Six weeks later each observer received the hematoxylin-eosin-stained specimens to render a conventional diagnosis. SETTING: Dermatopathology and pathology units within institutional and private settings. MATERIAL: Twenty small skin biopsy specimens of cutaneous diseases were selected randomly from a study set of 80. MAIN OUTCOME MEASURE: Concordance between telepathologic diagnoses and conventional histopathologic diagnoses of 20 skin specimens. RESULTS: On average, 78% of the telediagnoses were correct (range, 60%-95%), whereas 85% of the conventional diagnoses were correct (range, 60%-95%). A perfect diagnostic concordance was obtained in 7 (35%) of 20 cases, and a significant difference was identified in only 1 case. CONCLUSIONS: Results suggest that telepathology performed by physicians active in dermatopathology may serve as a reliable technique for the diagnosis of cutaneous diseases when experts in dermatopathology are not available locally. Furthermore, teledermatopathology is attractive because it provides an opportunity to obtain timely consultation on difficult cases.

A localized variant of paraneoplastic pemphigus: acantholysis associated with malignant melanoma.

We report a 72-year-old male patient with a nodular malignant melanoma that was associated with focal suprabasal acantholysis (FSA). This phenomenon, which is regarded as an incidental finding by dermatopathologists, may be associated with inflammatory and also neoplastic skin diseases. Haematoxylin and eosin stained sections from an erythematous plaque surrounding the patient's tumour showed FSA, direct immunofluorescence (DIF) and indirect immunofluorescence (IIF) on normal human skin, monkey oesophagus and rat urinary bladder were negative. On electron microscopy few desmosomes could be detected in the basal cell layer of the acantholytic areas and there was a nearly complete loss of these structures in the spinous cell layer. Only remnants of cytoplasmic plaques and keratin filaments could be observed in those areas. In contrast, adherens junctions appeared to be well preserved. An enzyme-linked immunosorbent assay (ELISA) using recombinant fusion proteins as antigens did not show circulating autoantibodies against desmoglein 1 (Dsg1) or desmoglein 3 (Dsg3). In contrast, immunoblotting revealed autoantibodies directed against keratinocyte antigens with a molecular weight of 85 kDa and 250 kDa, the first band corresponding to the molecular weight of comigrating plakoglobin. Immunoprecipitation with patient serum also revealed a 85-kDa band. We conclude that these autoantibodies, probably in conjunction with cofactors produced by the tumour, could play a part in the pathogenesis of this variant of FSA, for which we propose the term 'localized paraneoplastic pemphigus.'

Large melanocytic nevi in hereditary epidermolysis bullosa.

Large melanocytic nevi occurring in areas of former blistering in patients with hereditary epidermolysis bullosa (EB) pose a problem to the clinician with regard to prognosis and therapy because they may show clinical and histopathologic features strikingly resembling malignant melanoma. To investigate clinical and histologic criteria as well as the biologic behavior of these nevi, pigmented lesions of 12 patients (EB simplex, n = 1; junctional EB, n = 7; dystrophic EB, n = 4) of the Austrian EB registry were analyzed. Clinically, the nevi are up to palm sized, are initially very dark, and may exhibit stippled pigmentation and irregular borders that outline areas of former blisters. Over time they usually lose pigment, the surface gets papillomatous, and finally they acquire a shagreen-like appearance. Histopathologically, the nevi frequently exhibit a compound congenital or persisting nevus/pseudomelanoma pattern. Despite this combination of features, no malignant transformation of the nevi has been seen by us even after 20 years of prospective surveillance. Because nevi with these criteria do not fit in any of the known categories, we suggest the term EB nevi.

Basaloid neoplasms in nevus sebaceus.

BACKGROUND: Nevus sebaceus (NS) (organoider nevus) may frequently be associated with the development of a number of benign and malignant neoplasms among which basaloid neoplasms are the most common. Histopathologic criteria for diagnosis and classification of basaloid proliferations arising in NS are still debated. Most previous investigators have considered them to represent mainly basal cell carcinomas (BCCs). On the contrary, a number of recent authors have proposed that most basaloid neoplasms in NS exhibit predominantly morphologic features implying benignancy, thus representing trichoblastomas (TBs). In this study, we attempted to characterize better the histopathologic features of basaloid neoplasms in NS in a large series based on current morphologic criteria. METHODS: Three-hundred and sixteen cases of NS seen over 19 years were consecutively sampled and reviewed for basaloid neoplasms. Twenty-four cases of basaloid neoplasms in NS were identified and categorized based on current histopathologic criteria either as TB or BCC. For comparison of histopathologic features, 37 solitary TB were also studied. RESULTS: Following histopathologic analysis, 22 cases were categorized as TB (91.6%, 10 males, 12 females; mean age 40.8 years, range 19-78 years) and 2 cases as BCC (8.4%, 1 male, 1 female; 32 years and 40 years). Clinical features in both groups were generally similar. The lesions presented exclusively on the head and neck as skin colored to pigmented papules or nodules within NS (scalp in 19 TB cases and 1 BCC case; face in 2 TB cases and 1 BCC case; neck in 1 TB case). Histopathologically, TB in NS were characterized by smooth-bordered basaloid aggregations with either a nodular and/or a superficial pattern, abundant fibrous stroma with focal clefts within the stroma, and prominent features of limited follicular differentiation (rudimentary follicular germs in concert with papillae). In contrast, BCC in NS showed basaloid aggregations that vary markedly in size and shape, scant fibrous stroma, focal mucinous clefts between basaloid aggregations and surrounding stroma, and lack of prominent rudimentary follicular germs in concert with papillae. Remarkably, sections in a few cases of TB showed features occasionally found in BCCs but presently widely considered to be unspecific (e.g., ulceration, cystic degeneration, and focal clefts between basaloid aggregations and surrounding stroma). Two cases of TB in NS were associated with a sebaceoma and 1 case with a desmoplastic trichilemmoma. Follow-up data in 14 TB cases and 2 BCC cases (mean follow-up 28.8 months; range 1 to 160 months) revealed no local recurrences or distant metastases. CONCLUSION: Our study confirms that the vast majority of the basaloid neoplasms arising in NS show clear-cut morphologic criteria for TB, whereas only a few cases display histopathologic features consistent with BCC. In a minority of cases, basaloid neoplasms with overall morphologic features of TB may present problems in diagnosis when they exhibit a few histopathologic features traditionally associated with BCC or when they occur in combination with other adnexal neoplasms.

Teledermoscopy--results of a multicentre study on 43 pigmented skin lesions.

We performed a multicentre study to evaluate the agreement between the direct clinical diagnosis and the telediagnosis of 43 cutaneous pigmented lesions. Digital clinical and dermoscopic images of the 43 pigmented skin lesions (11 melanomas, 23 melanocytic naevi, three basal cell carcinomas, three lentigines, two seborrhoeic keratoses and one angiokeratoma) were sent by email to 11 colleagues (six dermatologists, two residents in dermatology, one oncologist, one specialist in internal medicine and one general practitioner) in 10 centres. These 11 colleagues had different degrees of experience in dermoscopy. With histopathology as the gold standard, an average of 85% of the telediagnoses were correct, with results varying from 77% to 95%, whereas face-to-face diagnosis by an expert dermatologist was correct in 91% of cases. The kappa value for all participants ranged from 0.35 to 0.87. The results confirm that teledermoscopy can be a reliable technique for the diagnosis of pigmented skin lesions but one that will depend on the expertise of the observer.

Subcutaneous trichoblastoma.

We have recently observed three examples of solitary trichoblastomas (TB) with unusual histopathologic features characterized mainly by numerous aggregations of basaloid cells limited to the subcutis. The three trichoblastomas with unusual features were identified from a large series of 38 solitary TB cases collected over a period of 20 years. Clinically, all three neoplasms presented in men (49, 52, and 62 years old) as solitary, 1- to 1.5-cm skin-colored nodules situated on the scalp, face, and lower arm, respectively. Histopathologically, they showed numerous, smooth-bordered aggregations of basaloid cells limited to the subcutis and surrounded by a sclerotic and partly hyalinized stroma. Multiple sections revealed no connections of basaloid aggregations to the overlying epidermis or pre-existing follicular structures. All three cases displayed rather unusual morphologic growth patterns, including areas of variously sized, nodular aggregations of basaloid cells and extensive foci of elongated, thin columns and branching cords of basaloid cells. A striking feature in the stromal component in two cases was the presence of large, prominent areas of hyalinization and sclerosis. Characteristically, all three neoplasms showed numerous foci with rudimentary follicular germs and papillae. Cytomorphologically, the basaloid cells exhibited dark staining nuclei with large prominent nucleoli and scanty, pale or eosinophilic cytoplasm. Variable number of mitotic figures (2-4 mitoses per high-power field) and single necrotic cells were noted. In one case, small, foci of necrosis en masse were observed. Follow-up data after total excision in all three cases (80, 69, and 6 months) revealed no local recurrences. In light of our observations, we suggest that subcutaneous TB represents a rare variant of solitary TB. Besides the exclusive subcutaneous location, this neoplasm also displays a constellation of particular histopathologic features, namely, rather complex epithelial growth patterns and stroma with prominent foci of sclerosis and hyalinization.

Ocular involvement in IgA-epidermolysis bullosa acquisita.

Epidermolysis bullosa acquisita (EBA) is an autoimmune bullous disease with frequent ocular involvement, but visual loss is rare. In contrast, EBA patients with predominant IgA autoantibodies more frequently develop severe ocular involvement, which tends to be refractory to therapy. We report two patients with 'IgA-EBA' with ocular involvement. Both initially presented with a generalized bullous disease, and direct immunofluorescence microscopy demonstrated IgA in the basement membrane zone of the skin, and in the conjunctiva and cornea of patient 1. On salt-split patient skin, IgA was found predominantly on the dermal side of the artificial split in both patients. Direct immunoelectron microscopy demonstrated IgA below the lamina densa in close association with the anchoring fibrils in both patients. In patient 1, who had a prolonged course of the disease, the skin disorder responded well to treatment with cyclosporin, but the ocular involvement ended in bilateral blindness despite repeated surgical treatment. In patient 2, the blister formation and scarring conjunctivitis was stopped by a combination of prednisolone and colchicine. These patients show that in subepithelial blistering diseases, early delineation of disease nosology is critical to detect subtypes with severe ocular involvement such as 'IgA-EBA'. In addition, colchicine may be a valuable alternative in the treatment of EBA with ocular involvement.