Cranio-Osteoarthropathy

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Classification according to ICD-10
M89.4 Other hypertrophic osteoarthropathy
ICD-10 online (WHO version 2019)

The cranio-osteoarthropathy (COA) is a very rare congenital form of primary hypertrophic osteoarthropathy with main characteristics of delayed closure of the cranial sutures and fontanelle , clubbed fingers , arthropathy and thickening of the bone skin (periostosis).

Synonyms are: Reginato-Schiapachasse syndrome; English Currarino disease; Currarino idiopathic osteoarthropathy

The names refer to reports from 1961 by the Italian-born American children's radiologist Guido Currarino and from 1982 by the Chilean doctor Antonio J. Reginato, Virgilio Schiapachasse and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive . So far, about 30 people have been reported to be affected.

root cause

The disease are mutations in HPGD - gene on chromosome 4 locus q34.1 basis.

Mutations of this gene are also found in type 1 pachydermoperiostosis .

Clinical manifestations

Clinical criteria are:

  • Manifestation in childhood
  • hypertrophic osteoarthropathy with drumstick fingers, clinodactyly , arthropathy, periosteal new bone formation
  • delayed closure of the cranial sutures and fontanelles
  • eczema-like skin changes

In addition to congenital heart come

literature

  • X. Chen, CC Zou, GP Dong, L. Liang, ZY Zhao: Cranio-osteoarthropathy: a rare variant of hypertrophic osteoarthropathy. In: Irish journal of medical science. Volume 181, Number 2, June 2012, pp. 257-261, doi: 10.1007 / s11845-009-0346-0 , PMID 19430868 (review).
  • T. Dabir, AM Sills, CM Hall, C. Bennett, LC Wilson, RC Hennekam: Cranio-osteoarthropathy in sibs. In: Clinical dysmorphology. Volume 16, Number 3, July 2007, pp. 197-201, doi: 10.1097 / MCD.0b013e32801470d8 , PMID 17551338 .
  • M. Kabra, SK Kabra, M. Ghosh, AK Gupta, PS Menon: Idiopathic cranio-osteoarthropathy. In: Indian pediatrics. Volume 37, Number 6, June 2000, pp. 659-662, PMID 10869149 .

Individual evidence

  1. ^ A b c cranio-osteoarthropathy. In: Orphanet (Rare Disease Database).
  2. ^ G Currarino, RC Tierney, RG Giesel, C. Weihl: Familial idiopathic osteoarthropathy. In: The American journal of roentgenology, radium therapy, and nuclear medicine. Vol. 85, April 1961, pp. 633-644, PMID 13718912 .
  3. ↑ Who named it
  4. ↑ AJ Reginato, V. Schiapachasse, R. Guerrero: Familial idiopathic hypertrophic osteoarthropathy and cranial suture defects in children. In: Skeletal radiology. Volume 8, Number 2, 1982, pp. 105-109, PMID 7100937 .
  5. ↑ Cranioosteoarthropathy.  In: Online Mendelian Inheritance in Man . (English)