Rombo syndromeQ82.8
Synonym(s)
OMIM 180730
HistoryThis section has been translated automatically.
Michaelsson, Olsson, Westermark, 1981
DefinitionThis section has been translated automatically.
Genodermatosis described in 12 members of one family, probably autosomal-dominantly inherited, characterized by acrocyanosis and keratosis follicularis occurring at the age of 7-10 years, later development of numerous milia, loss of eyelashes and eyebrows, Atrophodermia vermiculata, multiple trichoepitheliomas and basal cell carcinomas in early adulthood. It is very similar to the Bazex-Dupré-Christol syndrome.
EtiopathogenesisThis section has been translated automatically.
The underlying genetic defect has not yet been described.
LocalizationThis section has been translated automatically.
Predilection sites are the exposed areas, especially the face.
Differential diagnosisThis section has been translated automatically.
Note(s)This section has been translated automatically.
Oley syndrome, first described in 1992, has thinning hair and milia in addition to basal cell carcinomas. It is probably a phenotypic variant of Rombo syndrome (Andreani V et al. 2000). It is now no longer listed as a distinct entity.
LiteratureThis section has been translated automatically.
- Andreani V et al (2000) Congenital hypotrichosis and milia with spontaneous regression duringadolescence
or Oley syndrome: a variant of Bazex-Dupré-Christol syndrome. Ann Dermatol Venereol 127:285-288. - Michaelsson G, Olsson E, Westermark P (1981) The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol 61: 497-503
- van Steensel MA et al (2001) A case of Rombo syndrome. Br J Dermatol 144: 1215-1218