Buschke-Ollendorff syndrome

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

The Buschke-Ollendorff syndrome or dermatofibrosis lenticularis disseminata is a rare connective tissue disease with a combination of skin and skeletal changes with a few millimeters of connective tissue nevi on the trunk and extremities as well as signs of osteopoikilosis .

It is named after the German dermatologist Abraham Buschke and the German-American dermatologist Helene Ollendorff-Curth , with Stieda (1905) and Albers-Schönberg (1916) being the first to describe it.

Synonyms are: Dermato-Osteopoikilosis , Osteopathia condensans disseminata , Osteosclerosis disseminata, Dermatofibrosis lenticularis disseminata cum osteopoikilosis .

The mode of inheritance is likely to be autosomal dominant .

etiology

Etiologically, it is a loss-of-function mutation in the LEMD3 gene , which is mapped on the gene locus 12q14. The frequency is given as 1 in 20,000 people.

diagnosis

The painless skin changes that grow with the child appear shortly after birth; the diagnosis is made histologically from the skin lesions and from an X-ray examination of the skeleton.

Clinically, the differential diagnosis must be distinguished from pseudoxanthoma elasticum , tuberous sclerosis and a histiocytoma, and radiologically from melorheostosis and sclerotic bone metastases. Rarely, spinal stenosis, herniated disc, clubfoot and nerve root compression or otosclerosis can also occur.

Web links

Individual evidence

  1. ↑ a b W. Pschyrembel: Clinical Dictionary. 265th edition. Verlag Walter de Gruyter, 2014, ISBN 978-3-11-018534-8 .
  2. ↑ whonamedit
  3. ↑ A. Buschke, H. Ollendorff-Curth: A case of Dermatofibrosis lenticularis disseminata and Osteopathia condensans disseminata. 1928, In: Dermatologische Wochenschrift, Hamburg. 1986, pp. 257-262.
  4. ^ HE Albers-Schönberg: A rare, previously unknown structural anomaly of the skeleton. In: Fortschr Roentgenstr. 1916, 23, pp. 174-177.
  5. ^ A. Stieda: About circumscribed bone compression in the area of ​​the substantia spongiosa in X-ray images. In: Beitr Klin Chir. 1905, 45, pp. 700-703.
  6. ↑ JW Spranger: Bone Dysplasias. Urban & Fischer, 2002, ISBN 3-437-21430-6 .
  7. ↑ Buschke-Ollendorff syndrome.  In: Online Mendelian Inheritance in Man . (English)
  8. ^ B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9 .
  9. ↑ J. Hellemans, O. Preobrazhenska u. a .: Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. In: Nature Genetics . Volume 36, Number 11, November 2004, pp. 1213-1218, ISSN  1061-4036 . doi: 10.1038 / ng1453 . PMID 15489854 .
  10. ↑ P. de la Salmonière, M. Janier, K. Chemlal, I. lazaretto, A. Carlotti, I. Charasson, P. Priollet, F. Daniel: [Buschke-Ollendorff syndrome]. In: Annales de Dermatologie et de Vénéréologie . Volume 121, Number 10, 1994, pp. 718-720. ISSN  0151-9638 . PMID 7793762 .
  11. ↑ Buschke-Ollendorff syndrome. In: Orphanet (Rare Disease Database).