Rombo syndrome
| Classification according to ICD-10 | |
|---|---|
| D23.30 | Other benign neoplasms of the skin, other and unspecified parts of the face |
| ICD-10 online (WHO version 2019) | |
The Rombo syndrome is a very rare congenital genodermatosis with the main features of a worm-like Atrophodermie, sparse hair, decreased sweating and a tendency to basal cell carcinoma .
The designation refers to the name of the first described patient from 1981 by G. Michaëlsson and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, the heredity and cause are unknown.
Clinical manifestations
Clinical criteria are:
- worm-shaped atrophoderma with keratosis follicularis , on the face between 7–10 years of age
- Milia
- Hypotrichosis , loss of eyelashes and eyebrows
- multiple trichoepitheliomas
- peripheral vasodilatation with acrocyanosis
- Basal cell carcinomas often develop in early adulthood
Differential diagnosis
The similar Bazex-Dupré-Christol syndrome must be distinguished .
literature
- MA van Steensel, NG Jaspers, PM Steijlen: A case of Rombo syndrome. In: The British journal of dermatology , Vol. 144, No. 6, June 2001, pp. 1215-1218, PMID 11422044 .
- R. Ashinoff, M. Jacobson, DV Belsito: Rombo syndrome: a second case report and review. In: Journal of the American Academy of Dermatology , Vol. 28, No. 6, June 1993, pp. 1011-1014, PMID 8496444 (Review).
Web links
Individual evidence
- ↑ a b c Rombo syndrome. In: Orphanet (Rare Disease Database).
- ↑ a b c Dermatology online
- ↑ G. Michaëlsson, E. Olsson, P. Westermark: The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. In: Acta Dermato-Venereologica , Vol. 61, No. 6, 1981, pp. 497-503, PMID 6177160 .
