Recessive dystrophic epidermolysis bullosa (RDEB) is an uncommon and severely disabling genetic disorder characterized by trauma-induced blisters, intractable skin ulcers, scarring, milia, and nail dystrophy. Patients with RDEB have an increased tendency for fast-growing and early metastasizing squamous cell carcinoma (SCC). We report here a 13-year-old girl with RDEB who developed a large SCC on the left knee. At 6 months of evolution it was resected and covered with an autologous skin graft. To our knowledge, this is the youngest patient with RDEB complicated by SCC to be reported, and therefore may serve to emphasize the importance of vigilance in surveying RDEB patients for SCC.
Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8qter, and in a recent study mutations in the ARS gene have been identified in families with this disorder. Here, we report two unrelated families with mal de Meleda, in which two different homozygous mutations in the ARS gene were identified. These findings support the notion that mutations in the ARS gene are pathogenic in mal de Meleda.
Although these results need to be confirmed by larger, long-term trials, it appears that acitretin is effective in the treatment of Bowen's disease related with arsenic, as well as arsenical keratosis.
Papuloerythroderma of Ofuji (PEO) is a disease of elderly men, characterized by intensely pruritic and widespread, red, flat-topped papules with sparing of the body folds and creases (the so-called 'deck-chair' sign). The etiopathogenesis of the disease remains unknown. Psoralen plus UVA (PUVA), topical and systemic corticosteroids, etretinate, cyclosporin and interferon are the main approaches in the treatment of this rare disease. A case of PEO in a 60-year-old man who responded to retinoid plus PUVA (Re-PUVA) treatment is reported here and a review of the therapy with other relevant cases is presented.
Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8 qter, and recently mutations in the ARS (component B) gene have been identified in families with this disorder. We describe a small family of Turkish origin with Mal de Meleda and identified a novel homozygous mutation, L98P, in ARS (component B). These findings extend the body of evidence implicating mutations in the ARS (component B) gene in Mal de Meleda.
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