Rombo syndrome

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).

180730

C535870

3110 Rombo syndrome

C1867147

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).

Resembles Bazex-Dupré-Christol syndrome, which is a X-linked dominant disease.

Basal cell carcinomas are a frequent complication.

The gene involved in this rare disease is unknown.