Hereditary sclerodactyly

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Classification according to ICD-10
Q87.2 Congenital malformation syndromes with predominant involvement of the extremities
ICD-10 online (WHO version 2019)

The Hereditary Sclerodactyly is a very rare congenital form of Sclerodactyly that already in early childhood with flexion contractures occur.

The first description comes from 1985 by R. Eubel, L. Klose and G. Mahrle.

Spread and cause

The frequency is unknown; the inheritance is autosomal dominant . The cause is not known.

Clinical manifestations

Clinical criteria are:

  • Manifestation in childhood with sclerosis and flexion contractures
  • Disease comes to a standstill as we grow up
  • initially thickening on the fingers , less often on the toes with sclerotic skin, in the final state contractures. The thumb and big toe are excluded, there are no defects on the fingertips.
  • Sometimes hyperkeratosis of the palms

The clinical picture can correspond to systemic sclerosis , but there is no Raynaud's phenomenon .

Differential diagnosis

Must be distinguished are systemic sclerosis , camptodactyly and Dupuytren's contracture .

therapy

Depending on the extent, an operative correction may be considered.

Individual evidence

  1. ↑ a b c d e Hereditary Form Encyclopedia Dermatology
  2. ↑ R. Eubel, L. Klose, G. Mahrle: Hereditäre Sclerodaktylie und. Syndactyly. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Volume 36, Number 5, May 1985, pp. 302-304, PMID 2989220 .
  3. ^ R. Baran, DAR De Berker, M. Holzberg, L. Thomas (Eds.): Baran and Dawber's Diseases of the Nails and their Management, 2012, p. 829, ISBN 978-0-470-65735-5 , online ISBN 978-1-118-28671-5 , DOI: 10.1002 / 9781118286715