Encephalo-cranio-cutaneous lipomatosis

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Classification according to ICD-10
E88.2 Lipomatosis, not elsewhere classified
ICD-10 online (WHO version 2019)

The encephalotrigeminal cranio cutaneous lipomatosis , even Haberland syndrome or Fishman syndrome , English. Called encephalocraniocutaneous lipomatosis , it is a very rare congenital disease with numerous lipomas, changes in the eyes, skin and central nervous system .

It was first described in 1970 by C. Haberland and M. Perou . Another publication was made by M. Fishman in 1978.

distribution

The frequency of the disease is given as less than 1 in 1,000,000.

root cause

The inheritance is autosomal dominant .

Clinical manifestations

In addition to multiple lipomas on the head, face and neck, there are usually hamartomas on the eyes , non-scarring alopecia on the skin , and scalp defects on one or both sides. The changes in the central nervous system include intracranial and intraspinal lipomas as well as disorders of the meninges.

Around half of those affected develop epilepsy , and a third have more significant developmental delays.

Differential diagnosis

Among other things, the Proteus syndrome has to be distinguished from the differential diagnosis.

therapy

A causal treatment is not known.

literature

  • K. Koti, V. Bhimireddy, S. Dandamudi, R. Gunnamreddy: Encephalocraniocutaneous Lipomatosis (Haberland syndrome): A case report and review of literature. In: Indian journal of dermatology. Volume 58, Number 3, May 2013, pp. 232-234, ISSN  1998-3611 . doi : 10.4103 / 0019-5154.110835 . PMID 23723477 . PMC 3667289 (free full text).
  • DJ Amor, AJ Kornberg, LJ Smith: Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome. In: Journal of pediatrics and child health. Volume 36, Number 6, December 2000, pp. 603-605, ISSN  1034-4810 . PMID 11115042 .
  • R. Happle, PM Steijlen: Encephalocraniocutaneous lipomatosis. In: The dermatologist ; Journal of Dermatology, Venereology, and Allied Fields. Volume 44, Number 1, January 1993, pp. 19-22, ISSN  0017-8470 . PMID 8436503 .

Individual evidence

  1. ↑ C. Haberland, M. Perou: Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. In: Archives of neurology. Volume 22, Number 2, February 1970, pp. 144-155, ISSN  0003-9942 . PMID 4902772 .
  2. ^ MA Fishman, CS Chang, JE Miller: Encephalocraniocutaneous lipomatosis. In: Pediatrics. Volume 61, Number 4, April 1978, pp. 580-582, ISSN  0031-4005 . PMID 662483 .
  3. ↑ Encephalo-cranio-cutaneous lipomatosis. In: Orphanet (Rare Disease Database).
  4. ↑ Radiopaedia
  5. ↑ Encephalo-cranio-cutaneous lipomatosis.  In: Online Mendelian Inheritance in Man . (English)

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