Helweg-Larsen's syndrome

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A familial syndrome marked by anhidrosis present from birth, ectodermal dysplasia, and neurolabyrinthian deafness developing in the fourth or fifth decade.

Description

A familial syndrome marked by anhidrosis present from birth, ectodermal dysplasia, and neurolabyrinthian deafness developing in the fourth or fifth decade. There is a marked reduction in the number of sweat glands, and those that are present are hypertrophied. Temperature disturbances due to anhidrosis or marked hypohidrosis. Both sexes affected.

Helweg-Larsen with K. Ludvigsen first described the condition in 1946 based on observation of a family with 14 sick members. Inheritance is autosomal dominant.

Bibliography

  • H. F. Helweg-Larsen, K. Ludvigsen:
    Congenital familial anhidrosis and neurolabyrinthitis.
    Acta dermato-venereologica, Stockholm, 1946, 26: 489-505.

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