- A dictionary of medical eponyms

Hallopeau-Siemens syndrome

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A destructive form of epidermolysis bullosa with large flaccid bullae developing spontaneously on any part of skin surface, but particularly on the hands, feet, elbows, and knees.

Description

A destructive form of epidermolysis bullosa with large flaccid bullae developing spontaneously on any part of skin surface, but particularly on the hands, feet, elbows, and knees. Bullae heal leaving scar and miliary cysts. Pseudowebbing may develop between fingers and toes. Mucous surfaces, especially of the conjunctiva and cornea, may be affected. Tongue mobility may be limited by scarring. Oesophageal stricture and syndactyly occur in severe cases The dental enamel is usually defective. Hair may be sparse and alopecia develops. Etiology unknown. Autosomal recessive inheritance. Both sexes affected, onset at birth or early infancy; exceptionally, later. Inheritance is autosomal recessive.

We thank Viktoria Dimas for correcting an error in our original entry.

Bibliography

  • F. H. Hallopeau:
    Sur une dermatose bulleuse infantile avec cicatrices indélébiles, kystes epidermiques et manifesstations buccales.
    Annales de dermatologie et de syphilographie, Paris, 1890, 1: 414.
  • A. Touraine:
    L’Hérédité en Medicine. Paris, Masson, 1955.

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