Dermo-chondro-corneal dystrophy

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Classification according to ICD-10
M89.5 Osteolysis
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Dermo-chondro-corneal dystrophy is a very rare congenital , originally idiopathic osteolysis counted disease with the main features of osteolysis of the hands and feet , corneal opacities and xanthomas .

Synonyms are: Idiopathic carpotarsal osteolysis type V; Osteolysis, hereditary idiopathic, type V (François); Francois Syndrome I; Idiopathic osteolysis type V; Latin Dystrophia dermo-chondro-cornealis familiaris

The name refers to the first authors of the first description from 1949 by the Belgian ophthalmologist Jules François (1907–1987).

Spread and cause

The frequency is given as less than 1 in 1,000,000, so far fewer than 20 people have been reported. Inheritance is autosomal - recessive . The cause is not yet known.

Clinical manifestations

Clinical criteria are:

  • Onset of illness in early childhood with tenderness and difficulty walking
  • Progressive osteolysis of the hands and feet with increasing deformation of the fingers and toes, contractures
  • Subepithelial corneal opacities
  • Skin xanthomas grouped around the metacarpophalangeal and interphalangeal joints , nose and ears and on the extensor side of the elbow joint

In addition, a nephropathy occurred, also involvement of the gums is possible.

literature

  • A. Hidalgo-Bravo, ML Acosta-Nieto, MI Normendez-Martinez, NF Rodriguez-Gonzalez, F. Paz-Gomez, M. Valdes-Flores, M. Kramis-Hollands: Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review. In: American journal of medical genetics. Part A. Vol. 170A, No. 2, February 2016, pp. 446-451, doi: 10.1002 / ajmg.a.37423 , PMID 26440764 (Review).
  • J. Baumgartner-Nielsen, J. Hjortdal, K. Fogh: Dermochondrocorneal dystrophy (Francois' syndrome). In: Acta dermato-venereologica. Vol. 90, No. 4, July 2010, pp. 412-413, doi: 10.2340 / 00015555-0834 , PMID 20574610 .
  • J. Kunze: Wiedemann's Atlas of Clinical Syndromes: Phenomenology, Etiology, Differential Diagnosis; with 10 tables. Schattauer Verlag, 2010, ISBN 978-3-7945-2657-4 , p. 349 ff.
  • HR Wiedemann: On Francois' disease. In: Medical weekly. Vol. 13, No. 41, October 1958, pp. 905-909, PMID 13582732 .

Individual evidence

  1. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c Dystrophy, dermo-chondro-corneale. In: Orphanet (Rare Disease Database).
  3. ↑ Encyclopedia Dermatology
  4. ↑ J. François: dystrophy dermo-chondro-cornéenne familiale. In: Annales d'oculistique. Vol. 182, No. 6, June 1949, pp. 409-442, PMID 18132892 .
  5. ↑ Dermochondrocorneal Dystrophy.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ A. Sardella, A. Carrassi, R. Caputo, M. Monti, P. God: gingival lesions in a patient with dermochondrocorneal dystrophy (François syndrome). A case report. In: Journal of clinical periodontology. Vol. 25, No. 12, December 1998, pp. 1047-1049, PMID 9869357 (review).