Dysosteosclerosis

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Classification according to ICD-10
Q78.8 Other specified osteochondrodysplasias
ICD-10 online (WHO version 2019)

The Dysosteosklerose ( ancient Greek δύς dys , German , miss, bad ' , ὀστούν ostoun , German , bone' and κληρός skleros , German , hard ' ) is a very rare congenital skeletal dysplasia with the main features of dwarfism , sclerosis of parts of the trunk skeleton, distension of the metaphyses and platyspondyly .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal or X-linked - recessive .

root cause

The disease are mutations in SLC29A33 - gene based encoding nucleoside transporter for one.

The same gene is also affected in H syndrome and Rosai-Dorfman disease .

Clinical manifestations

Clinical criteria are:

diagnosis

In the X-ray image there is a osteosclerosis of the skull , the fins and collar bones , the ilium and the long tubular bone while leaving a distended metaphysis and a platyspondyly.

Prospect of healing

The prognosis is not considered favorable.

history

The first description (as osteopetrosis ) comes from RWB Ellis in 1934 .

It was further described in 1939 by CE Field .

The delimitation as an independent syndrome was made in 1968 by the French pediatrician C. Roy and at the same time by the German pediatrician Jürgen Spranger and colleagues.

literature

  • PM Campeau, JT Lu, G. Sule, MM Jiang, Y. Bae, S. Madan, W. Högler, NJ Shaw, S. Mumm, RA Gibbs, MP Whyte, BH Lee: Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. In: Human Molecular Genetics . Vol. 21, No. 22, November 2012, pp. 4904-4909, doi: 10.1093 / hmg / dds326 , PMID 22875837 , PMC 3607481 (free full text).
  • K. Kobayashi, Y. Goto, H. Kise, H. Kanai, K. Kodera, G. Nishimura, K. Ohyama, K. Sugita, T. Komai: A case report of dysosteosclerosis observed from the prenatal period. In: Clinical pediatric endocrinology: case reports and clinical investigations: official journal of the Japanese Society for Pediatric Endocrinology. Vol. 19, No. 3, July 2010, pp. 57-62, doi: 10.1297 / cpe.19.57 , PMID 23926380 , PMC 3687622 (free full text).

Individual evidence

  1. ↑ a b c 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 d Dysosteosclerosis. In: Orphanet (Rare Disease Database).
  3. ↑ Dysosteosclerosis.  In: Online Mendelian Inheritance in Man . (English)
  4. ^ RW Ellis: Osteopetrosis: (Section for the Study of Disease in Children). In: Proceedings of the Royal Society of Medicine. Vol. 27, No. 12, October 1934, pp. 1563-1571, PMID 19989973 , PMC 2205636 (free full text).
  5. ^ CE Field: Albers-Schönberg Disease. An atypical case. In: Proceedings of the Royal Society of Medicine. Vol. 32, No. 4, February 1939, pp. 320-324, PMID 19991797 , PMC 1997475 (free full text).
  6. ↑ C. Roy, P. Maroteaux, L. Kremp, V. Courtecuisse, D. Alagille: Un nouveau syndrome osseux avec anomalies cutanées et troubles neurologiques. In: Archives françaises de pédiatrie. Vol. 25, No. 8, October 1968, pp. 893-905, PMID 5697256 .
  7. ↑ J. Spranger, C. Albrecht, HJ Rohwedder, HR Wiedemann: [Dysosteosclerosis - a special form of generalized osteosclerosis]. In: RöFo Advances in the field of X-rays and nuclear medicine. Vol. 109, No. 4, October 1968, pp. 504-512, PMID 5750745 .

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