Rombo syndrome

 Rombo syndrome describes a very rare, facialized genodermatosis of unclear origin. Characteristic features include wormlike atrophoderma, numerous milia, hypotrichosis, eyelash and eyebrow dropout, trichoepithelioma, keratosis follicularis and peripheral vasodilation with acrocyanosis. The disease manifests at the age of 7 to 10 years and is initially associated with skin lesions, where dislocation sites are sun-exposed areas, especially the face. Basal cell carcinomas are common and develop at the age of about 35 years. To date, Rombo syndrome has been described in 12 members of one family in four generations and in two additional sporadic cases.

Inheritance is probably autosomal dominant. In vitro studies suggest that the disease might be due to a defect in DNA repair, but the defective gene is not yet known.

The histology of the skin shows an extremely different distribution of elastin in the upper dermis, in most areas the dermis is almost free of elastin, in other areas, there is a veritable clumping of elastic material. The histological picture is accompanied by vascular proliferation and a lymphocytic infiltrate.

An important differential diagnosis is the Bazex-Dupré-Christol syndrome, which is very similar to the Rombo syndrome but is inherited as an X chromosomal trade and shows atrophoderma rather in the area of the back of the hand and the back of the foot.