Behçet's disease is a chronic, relapsing, idiopathic, multi-system condition characterized by mucocutaneous, ocular, gastrointestinal, articular, vascular, urogenital, and neurologic involvement. Usually the onset occurs between 20 and 30 years of age; it is very uncommon in children. We analyzed 40 cases of childhood-onset Behçet's disease. The male:female ratio was 0.67. The most frequent major sign was oral ulceration, appearing in all patients. Other major signs were genital ulcers (33 patients), skin lesions (29), and ocular lesions (11). The average time interval between the initial oral ulceration and the second major manifestation was 8.8 years. After the second major manifestation, the third and fourth features rapidly developed within one to two years. The most frequent minor sign was arthritis, occurring in 11 of 40 patients. Intestinal, neurologic, and renal involvement was also present. From our results, we concluded that oral ulceration, which is the most common initial manifestation, should not be neglected in children, since it may signal Behçet's disease.

Although the 210 and 190-kDa proteins are the most frequently detected antigens reacting with sera of patients with paraneoplastic pemphigus (PNP) in immunoblot analysis, there is still uncertainty as to the nature of these PNP antigens. To isolate and characterize a cDNA clone encoding the 210-kDa PNP antigen, we screened a human keratinocyte lambda gt 11 cDNA expression library by the immunoperoxidase method with serum IgG from a PNP patient. The IgG used for the immunoscreening of a keratinocyte cDNA expression library recognized 210- and 190-kDa antigens by immunoblotting. A single clone, called here the PNP clone, producing a fusion protein that reacted strongly with the patient's IgG, was further characterized. Only the PNP patient's IgG, but not IgG from a normal control, pemphigus foliaceus, or pemphigus vulgaris patients, bound the plaques of this positive clone. Furthermore, PNP IgG affinity purified on plaques of this clone, but not unrelated clones, bound to keratinocyte cell surfaces by immunofluorescence and reacted with the 210-kDa PNP antigen by immunoblotting. EcoRI digestion of the clone's cDNA insert demonstrated a 1.4-kbp fragment. This cDNA insert was placed into a M13 mp 18 vector and sequenced. Sequence analysis revealed that the cDNA insert of the PNP clone encodes a part of the central rod domain and the COOH-terminal C domain of envoplakin, a newly defined precursor of the cornified envelope that is homologous to desmoplakin. This result demonstrates that the 210-kDa PNP antigen is envoplakin and PNP is an autoimmune disease that produces autoantibodies against intermediate filament-associated proteins in desmosomes and hemidesmosomes, desmoplakin, bullous pemphigoid antigen 1 (BPAG 1), and envoplakin.

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Nevoid hypertrichosis is an uncommon congenital disorder consisting of terminal hair growth in a localized distribution on flesh-colored skin; it is not associated with any other systemic abnormalities. A 21-year-old male patient had a circumscribed area of depigmented terminal hairs on his chest which had been present since 1 year of age. At the age of 18, similar lesions developed on his left shoulder and upper arm. The underlying skin was slightly hypopigmented, and no other systemic abnormalities were found. Histologic examination demonstrated terminal hair follicles in otherwise normal skin. The number of HMB 45 positive melanocytes was markedly decreased in the affected skin. This case of multiple nevoid hypertrichosis is reported with a review of previously reported cases.

Primary cutaneous actinomycosis is very uncommon because of the exclusively endogenous habitat of the organism. We report a case of primary cutaneous actinomycosis characterized by histopathological "sulfur granules". The patient had a well-defined subcutaneous nodule on the left thigh without any other lesion and was treated with surgical excision and subsequent oral ampicillin for six weeks. There has been no recurrence during a 1-year period of follow-up.