Barraquer-Simons Syndrome
| Classification according to ICD-10 | |
|---|---|
| E88.1 | Lipodystrophy, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Barraquer-Simons syndrome refers to a rare disease of childhood with loss of subcutaneous fat in the face and trunk.
Synonyms are:
- Acquired partial lipodystrophy
- Progressive cephalo-thoracic lipodystrophy
- Barraquer's syndrome
- Hollander's syndrome
- Mitchell's syndrome II
- Simons' syndrome
- Smith's syndrome
The disease is named after the Spanish doctor Luis Barraquer Roviralta (1855–1928) and after the German doctor Arthur Simons (1879–1942).
distribution
The disease begins between the ages of 5 and 15, and girls are 3 times as likely to be affected. The cause is not known, there is no familial accumulation.
Recently, mutations in the LMNB2 gene (19p13.3) were detected. The gene codes for lamin B2, a protein found in the nuclear membrane.
clinic
Clinical characteristics of this form of lipodystrophy are hypoatrophy of the adipose tissue of the upper half of the body with hypertrophy of the thigh. The changes begin on the face and spread caudally . In addition, glomerulonephritis , diabetes mellitus , hyperlipidemia , sensorineural hearing loss or epilepsy can occur.
diagnosis
Autoantibodies (C3NeF-IgG) and decreased complement levels are found in 90% .
Differential diagnosis
Among other things, lipodystrophy type Berardinelli must be distinguished .
therapy
Surgical measures are possible for aesthetic reasons. Because of glomerulonephritis, kidney function must be monitored, which also has a significant influence on the prognosis.
history
The disease was described by
- S. Weir Mitchell: Singular case of absence of adipose matter in upper half of the body. In: American Journal of the Medical Sciences, Thorofare, NJ 1885, 90, p. 105.
- L. Barraquer Roviralta: Histoire clinique d'un cas d'atrophie du tissue cellulo-adipeux. Barcelona 1906.
- E. Holländer: About a case of progressive loss of adipose tissue and its cosmetic replacement with human fat. In: Munich Medical Weekly. 1910, 57, pp. 1794-1795.
- A. Simons: A rare trophoneurosis ("lipodystrophia progressiva"). In: Journal for the whole of neurology and psychiatry, Berlin. 1911, 5, pp. 29-38.
literature
- PO Simsek-Kiper, E. Roach, GE Utine, K. Boduroglu: Barraquer-Simons syndrome: A rare clinical entity. In: American journal of medical genetics. Part A. Volume 164, Number 7, July 2014, pp. 1756-1760, ISSN 1552-4833 . doi: 10.1002 / ajmg.a.36491 . PMID 24788242 .
Web links
- Barraquer-Simons Syndrome. In: Online Mendelian Inheritance in Man . (English)
Individual evidence
- ↑ Who named it
- ↑ a b c d Barraquer-Simons syndrome. In: Orphanet (Rare Disease Database).
