Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene.

Dyskeratosis congenital is reported in two siblings. They presented with the classic triad of mucocutaneous features: leukoplakia of the tongue, dystrophic nails, and a widespread reticulate pigmentation on the neck and upper chest. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in both patients.

Bathing suit ichthyosis.

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive lamellar ichthyosis due to transglutaminase-1 (TGase-1) gene mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the 'bathing suit' areas, whereas the extremities and central face are almost completely spared. We report a 2-year-old African girl with BSI with ultrastructural and biochemical demonstration of TGase-1 deficiency over the affected skin.

Dermatitis herpetiformis: should direct immunofluorescence be the only diagnostic criterion?

We describe a 7-year-old boy with dermatitis herpetiformis (DH) diagnosed on clinical and histologic evidence, negative direct immunofluorescence (DIF) findings for junctional IgA deposits in uninvolved skin, positive IgA endomysial and gliadin antibodies, and jejunal biopsy revealing a gluten-sensitive enteropathy. Treatment with dapsone led to the disappearance of cutaneous lesions and pruritus within 48 hours. Demonstration of IgA immune deposits in the dermal papillae has been the only acceptable criterion for the diagnosis of dermatitis herpetiformis.