Winchester syndromeQ87.5

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 09.04.2022

Dieser Artikel auf Deutsch

Synonym(s)

Carpo-tarsal Osteolysis Type Winchester; MIM 277950

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

DefinitionThis section has been translated automatically.

Very rare, hereditary skeletal dysplasia with progressive multifocal osteolysis, characterized by dwarfism, circumscribed hypertrichosis, hyperpigmentation over the base joints of the fingers, joint destruction, skin thickening, hypertrophy of lips and gingiva (macrulia), macroglossia (inconstant).

EtiopathogenesisThis section has been translated automatically.

Autosomal recessive inheritance. Mutation in the MMP14 gene, which codes for matrix metalloproteinase14, an enzyme that plays an important role in collagen synthesis.

TherapyThis section has been translated automatically.

Symptomatic treatment, causal therapy not known, genetic counseling.

LiteratureThis section has been translated automatically.

  1. Nabai H et al (1977) Winchester Syndrome: Report of a case from Iran. J Cut Patho 4: 281-285

Authors

Last updated on: 09.04.2022

Author: Prof. Dr. med. Peter Altmeyer