Rombo Syndrome

Clinical Features

Michaelsson et al. (1981) designated an apparently hitherto undescribed disorder Rombo syndrome after the oldest affected family member. Skin changes began at ages 7 to 10 years. At that time a pronounced, somewhat cyanotic redness of the lips and hands was evident as well as moderate follicular atrophy of the skin on the cheeks. In adulthood, whitish-yellow, milia-like papules and telangiectatic vessels developed. The papules were present particularly on the cheeks and forehead, gradually becoming very conspicuous and dominating the clinical picture. Trichoepitheliomas were found in 1 case. In adults, the eyelashes and eyebrows were either missing or irregularly distributed with defective and maldirected growth. Basal cell carcinomas were a frequent complication. The skin atrophy was referred to as vermiculate atrophoderma. Basal cell carcinomas developed around the age of 35. Peripheral vasodilation with cyanosis was commented on. Histologic sections showed the dermis to be almost devoid of elastin in most areas with clumping of elastic material in other areas. The disorder had been transmitted through at least 4 generations with instances of male-to-male transmission. Some similarity to the Bazex syndrome (301845) was noted.

Van Steensel et al. (2001) reported a case in which the clinical findings closely matched those described by Michaelsson et al. (1981). Red and irregular skin of the face and multiple white papular lesions had been present since early childhood. As an adult, the patient manifested red and painful ears with telangiectases, redness of the skin of the lower arms, and multiple whitish papules of a few millimeters in size over the entire skin surface in a follicular distribution. The facial skin over the cheeks was strikingly altered, seemingly indurated and erythematous with an irregular surface. Atrophoderma vermiculatum was present over both elbows. Eyebrows were thinly implanted especially on the lateral side, eyelashes were absent, and beard growth was very sparse. The patient's build was peculiar, with a prominent midface, short stature, and disproportion between the rump and legs. Biopsies of chest lesions showed cystic structures located in the middle dermis that were covered on the inside with normal-appearing squamous epithelium and contained multiple vellus hairs and horny material. The skin taken from the face showed moderate hyperorthokeratosis. High in the dermis, up to the papillary dermis, highly irregular deposits of elastin were seen, whereas other areas appeared to be devoid of elastin. Deeper down in the dermis, the collagen fibrils showed unusual changes consisting of hyalinization and vacuolization. Van Steensel et al. (2001) noted that the histologic findings are similar to solar elastosis and suggested that the Rombo syndrome gene may be involved in DNA repair and/or cell cycle regulation. The abnormal response of cultured fibroblasts to ultraviolet irradiation as described by Michaelsson et al. (1981) would be consistent with this hypothesis. Van Steensel et al. (2001) stated that this was a sporadic case, but noted in an erratum that the mother of the patient was affected.

Inheritance

Male-to-male transmission through 4 generations in the family with Rombo syndrome described by Michaelsson et al. (1981) is consistent with autosomal dominant inheritance.