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Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis. However, little has been reported on the epidermal basement membrane in this condition. This paper reports 2 families with nail-patella syndrome. Direct sequencing analysis of LMX1B revealed that family 1 and family 2 were heterozygous for the mutations c.140-1G>C and c.326+1G>C, respectively. To evaluate the epidermal basement membrane zone, ultrastructural and immunohistochemical analyses were performed using skin specimens obtained from the dorsal thumb. Electron microscopy showed intact hemidesmosomes, lamina lucida, lamina densa, and anchoring fibrils. Immunofluorescence studies with antibodies against components of the epidermal basement membrane zone revealed a normal expression pattern among the components, including type IV collagen. These data suggest that nail dysplasia in patients with nail-patella syndrome is not caused by structural abnormalities of the epidermal basement membrane.

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Abstract is missing (Quiz)

The article describes the case of an 18-year-old Japanese male patient with a history of bilateral, well-defined erythematous hyperkerotic lesions on his extremities and lumbar area, and who developed a Nagashima-type palmoplantar keratosis (NPPK). The diagnosis is confirmed after performing physical examination, histology of lesional skin and mutational analysis. A discussion on the role fo mutation in SERPINB7 gene in the occurrence of NPPK is offered.

An answer is presented to a question on diagnosis in infant girl who presented with asymptomatic papules on her entire body.

The article describes the case of a 24-year-old Japanese woman diagnosed with lymphomatoid papulosis (LyP) type D, a histopathological variant simulating a primary cutaneous aggressive epidermotropic CD8 cytotoxic T-cell lymphoma. Topics discussed include the clinical characteristics of LyP, medical history of the patient, results of several tests performed on the patient including physical and laboratory and positive differential diagnosis of the case.

This article describes a case study of tubular Spitz naevus. The patient presented with an asymptomatic reddish nodule, which had been present for two months. Clinicopathological findings revealed tubular Spitz naevus that resembled ependymal rosette in neurogenic neoplasms and partly resembled eccrine spiradenoma. The clinical management of the patient is detailed.

This article describes a case study of recessive dystrophic epidermolysis bullosa (RDEB) successfully treated with cultured epidermal autograft (CEA). The patient presented with generalized blisters induced by minor trauma since birth. At three days after the CEA procedure, spotted epithelialization was observed on the right knee and at two weeks, almost full re-epithelialization was observed.