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Rombo syndrome

Written2011-09Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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Identity

Atlas_Id 10169
Inheritance Rare disorder, with less than 10 cases described, with a probable autosomal dominant transmission, as suggested by the family tree of four generations in the princeps report (Michaëlsson et al., 1981).

Clinics

Phenotype and clinics Skin changes appear at the age of 6-10 years, with cyanotic redness, acral erythema, thin implantation of hair and absent eyelashes (hypotrichosis). Atrophoderma vermiculatum (severe skin atrophy) of the face and sun-exposed areas, telangiectasia and milia-like papules develop in adulthood. Histology of the skin shows highly irregular distribution of elastin in the upper dermis, with areas without elastin and others with clumps of elastin, vascular proliferation and lymphocytes infiltration (Michaëlsson et al., 1981; Van Steensel et al., 2001).
Differential diagnosis Resembles Bazex-Dupré-Christol syndrome, which is a X-linked dominant disease.
Neoplastic risk Basal cell carcinomas are a frequent complication.

Genes involved and Proteins

Note The gene involved in this rare disease is unknown.

Bibliography

The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis.
Michaelsson G, Olsson E, Westermark P.
Acta Derm Venereol. 1981;61(6):497-503.
PMID 6177160
 
A case of Rombo syndrome.
van Steensel MA, Jaspers NG, Steijlen PM.
Br J Dermatol. 2001 Jun;144(6):1215-8.
PMID 11422044
 

Citation

This paper should be referenced as such :
Huret, JL
Rombo syndrome
Atlas Genet Cytogenet Oncol Haematol. 2012;16(2):156-156.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/RomboID10169.html


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