A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormal development of the hair, teeth, and sweat glands. It is caused by mutations in the EDA gene, which maps to the X chromosome and encodes a protein called ectodysplasin-A, a member of the tumor necrosis factor-related ligand family. Affected males typically exhibit all the typical features of HED, but heterozygous carriers may show mild to moderate clinical manifestations.

[Pressure-induced lipoatrophia semicircularis].

Lipoatrophia semicircularis of the thighs is an uncommon form of localized lipodystrophy characterized by horizontal semicircular depressions distributed to form a band. The asymptomatic, often bilateral, and symmetric lesions are localized on the anterolateral aspect of the thighs. The pathogenesis of these lesions is unknown, although most cases are associated with repetitive trauma.