Early-onset acral basal cell carcinomas in Gorlin syndrome.

Two patients are reported in whom early-onset, distal papules with a histopathological diagnosis of basal cell carcinoma were the first manifestation of Gorlin syndrome (GS). These lesions showed no progression and remained stable through follow-up. Two different PTCH1 gene mutations were detected in the two patients, and thus a phenotype-genotype correlation of this manifestation of GS was not possible.

Primary cutaneous B-cell lymphoma (marginal zone) with prominent T-cell component and aberrant dual (T and B) genotype; diagnostic usefulness of laser-capture microdissection.

The presence of a dominant B- or T-cell clone is an important diagnostic criterion for distinguishing cutaneous lymphomas from lymphoid reactive infiltrates. Rarely, a combined B- and T-cell rearrangement can be detected from a single sample. In such instances, genotypic analysis does not permit differentiation of the coexistence of a T- and B-cell lymphoma from a single clone harbouring a monoclonal rearrangement for both immunoglobulin heavy chain and T-cell receptor genes. We herein report a case of a skin tumour consistent with a dense cutaneous lymphoid infiltrate showing a double prominent B- and T-cell component. A dual B- and T-cell clonality was detected by polymerase chain reaction from whole-tissue DNA sample. Genotypic analysis with DNA, obtained after laser-assisted microdissection from the B-cell population, again showed both T- and B-cell monoclonal rearrangements. Conversely, the microdissected T-cell population did not reveal a clonal pattern. The diagnosis of cutaneous B-cell lymphoma with a dual B- and T-cell genotype was established. This description illustrates the diagnostic usefulness of laser-capture microdissection in cutaneous lymphomas presenting dual genotype.

Anetoderma associated with antiphospholipid antibodies: case report and review of the literature.

The association of primary anetoderma (PA) with antiphospholipid antibodies (APAs; with or without criteria of primary antiphospholipid syndrome) has been observed repeatedly and a possible pathogenic significance of this asssociation has been hypothesized. We report the case of a 21-year-old-woman who developed anetodermic lesions on her upper trunk and arms. The presence of APAs was demonstrated, but no diagnostic criteria of systemic lupus erythematosus were present. A review of the literature disclosed 20 previously reported patients presenting this peculiar association. Thrombotic phenomena, represented by spontaneous abortions or venous thrombosis, are a frequent complication in this setting. Taking these observations into account a systematic search for APAs in patients with PA seems advisable.

Clinical, histopathologic, and therapeutic aspects of subepidermal autoimmune bullous diseases with IgG on the floor of salt-split skin.

BACKGROUND: About 12% of patients with subepidermal autoimmune bullous disease and immunoglobulin G (IgG) at the dermal-epidermal junction present diseases other than bullous pemphigoid. MATERIALS AND METHODS: We report the clinical, histopathologic, and therapeutic aspects of eight cases of subepidermal bullous disorder with IgG on the floor of salt-split skin. RESULTS: A predominant neutrophilic infiltrate was detected in six of the eight patients. In one patient, the inflammatory infiltrate was neutrophilic and eosinophilic in the same proportion. A good response to dapsone alone or combined with prednisone was observed in six patients. CONCLUSIONS: The salt-split skin direct immunofluorescence test is useful for its diagnostic and therapeutic implications.

Focal dermal hypoplasia (Goltz syndrome): report of two cases with minor cutaneous and extracutaneous manifestations.

Two women, ages 33 and 16 years, had focal dermal hypoplasia (Goltz syndrome) with unusual, minimal clinical manifestations. The lesions consisted of patchy, atrophic, scaly, telangiectatic macules arranged in a linear pattern along Blaschko's lines, involving the anterior and lateral aspects of both legs (patient 1) and the anterolateral aspect of the left leg (patient 2). Type I partial syndactyly involving the second and the third toes in both patients was also present. The clinical and histopathologic features and diagnostic difficulties of cases of this disorder with minimal cutaneous and extracutaneous manifestations are discussed.

Pyoderma gangrenosum in association with erythema elevatum diutinum: report of two cases.

We report on the appearance of centrifugally spreading ulcers with undermined borders in two patients with chronic recurrent erythema elevatum diutinum controlled with dapsone. The ulcerated lesions were consistent on clinical and pathologic examination with the diagnosis of pyoderma gangrenosum. They eventually responded to treatment with oral corticosteroids. The addition of cyclosporine was required in one case. No associated disease was found in any of the patients. The possible pathophysiological mechanisms of this uncommon association are reviewed.

Repeated exposure to ultraviolet A in polymorphous light eruption patients and normal subjects: a clinical and histopathological study.

The clinical and histopathological responses to repeated exposures of ultraviolet A were studied in patients with polymorphous light eruption and in normal controls. Variable degrees of perivascular and diffuse infiltrates (lymphocytic and neutrophilic) were detected in both groups. These findings indicate that more specific parameters should be used to distinguish reactive from pathological responses.