Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions.

Background: Atrichia with papular lesions (APL) is a rare autosomal recessive condition resulting from mutations in the hairless (HR) gene.

Objective: In the present study, we investigated the molecular basis of APL in a non-consanguineous Korean family.

Methods: Direct automated DNA sequencing of the HR gene and restriction digestion analysis were used to identify and confirm the mutation in our proband.

Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins.

Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, we describe prenatal testing in a woman who previously had a child affected with Herlitz junctional epidermolysis bullosa. However, in her second pregnancy, she was found to have dichorionic diamniotic twins.

Recent advances in the molecular basis of inherited skin diseases.

Over the last few years the molecular basis of several inherited skin diseases has been delineated. Some discoveries have stemmed from a candidate gene approach using clinical, biochemical, immunohistochemical, and ultrastructural clues, while others have arisen from genetic linkage and positional cloning analyses. Notable advances have included elucidation of specific gene pathology in the major forms of inherited skin fragility, ichthyosis, and keratoderma.