Aquagenic keratoderma associated with a mutation of the cystic fibrosis gene.

Reported for the first time in 1996, aquagenic keratoderma is a rare condition which is characterized by edematous flat-topped papules appearing on palmar skin after water immersion. Multiple anecdotal associations have been described but, recently, the association with cystic fibrosis gene mutations (CFTR) has been highlighted. The authors describe an 18 year-old female, with one-month complaints of pruritus and swelling of palmar skin after water immersion. On examination, palmar skin was unremarkable but, 5 minutes after water immersion, multiple whitish papules became apparent. CFTR genotype study showed a F508del mutation in one allele. She had no other symptoms and no relevant family history. Aquagenic keratoderma is probably an under-diagnosed entity that might represent a manifestation of CFTR mutations, making carrier state identification and genetic counseling possible.

Multiple trichoepitheliomas--a novel mutation in the CYLD gene.

BACKGROUND: Trichoepitheliomas are benign neoplasms with follicular differentiation. They may present as a solitary lesion or as multiple lesions. Multiple trichoepitheliomas are inherited in an autosomal dominant pattern within families, with both variable penetrance and expressivity. Recent investigations support that mutations in CYLD, the gene affected in familial cylindromatosis as well as in Brooke-Spiegler syndrome, are also responsible for multiple trichoepitheliomas. OBJECTIVE: The authors report the case of a 9-year-old African girl with multiple facial trichoepitheliomas in whom a mutation in the CYLD gene was hypothesised. MATERIALS AND METHODS: After genomic DNA extraction from the peripheral blood, a molecular analysis of the CYLD gene was performed by PCR, DHPLC and automated sequencing. RESULTS: A novel heterozygous mutation in exon 18 of the CYLD gene (c.2449delT) was identified, with a deletion of one nucleotide resulting in a premature translational termination codon at amino acid position 831 on the affected allele (p.Cys817Valfs X15). CONCLUSIONS: The predominating tumours define the classification of these three entities. Nevertheless, studies suggest that they can simply represent phenotypic variations of the same disease spectrum, sharing common genetic mutations.

[Mucocutaneous pathology in HIV infection]. / Patologia cutâneo-mucosa na infecção pelo VIH.

Several infectious, neoplastic or inflammatory skin diseases, may be early manifestations of HIV infection. We reviewed the clinical data of 226 HIV seropositive male patients with cutaneous disease, from a total of 337 inpatients at the Infectious Diseases Unit--Department of Medicine 1--Curry Cabral Hospital, from 1985 to 1991. Some considerations are made about the most common dermatological disorders: oral candidiasis, seborrheic dermatitis, Kaposi's sarcoma, herpes simplex infection, drug-related skin disorders, herpes zoster and dermatophytosis. The high prevalence of cutaneous manifestations in HIV infection, the uncommon clinical findings and their occasional therapeutic problems, makes an early diagnosis essential.

Captopril-induced pemphigus vegetans with Charcot-Leyden crystals.

A 78-year-old woman developed intertriginous vegetating plaques, mouth ulcers, and a cerebriform tongue after 11 months of captopril therapy. Findings of clinical, histologic, and immunofluorescence testing were consistent with a diagnosis of pemphigus vegetans. In addition, Charcot-Leyden crystals were observed within some of the intraepidermal, eosinophilic abscess cavities, which were bordered by granular cells undergoing keratinization. The skin lesions cleared rapidly after discontinuation of captopril. To the best of our knowledge, this report describes the first case of pemphigus vegetans induced by captopril.