Familial cutaneous collagenoma: report of an affected family

A 44-year-old white woman was admitted to our hospital for the investigation of many roundish, pale-colored, nodular lesions of different sizes, ranging from a few millimeters to some centimeters, symmetrically grouped on the shoulders (Fig. 1), trunk, upper limbs, and abdomen. The lesions first appeared at 20 years of age on the upper chest around the clavicular region, and thereafter gradually increased on the trunk and upper limbs; they were completely asymptomatic, appearing on normal skin without a previous history of inflammation and/or trauma. No scarring or atrophy was evident. The smaller lesions exhibited a miliaria-like shape, being evident in particular on stretching of the skin; the larger ones showed a firm-elastic density, no adhesion to surrounding tissue, and deep localization in the skin. No hypopigmented macules or sebaceous adenoma-like lesions were present. Skin biopsy of a nodular lesion from the right shoulder revealed a normal epidermis and a dermis filled with bundles of dense and coarse collagen fibers (Fig. 2). Elastic fibers appeared thin and decreased in number under Verhoeff-van Gieson stain (Fig. 3). A diagnosis of cutaneous collagenoma was proposed. Routine laboratory investigations were within the normal range. Chest and skeleton (hands, pelvis, and long bones) X-ray, electrocardiogram, and echocardiogram showed no abnormality. In order to evaluate a possible familial cutaneous collagenoma, the 19-year-old son of the patient was also examined. He had a 3-month history of numerous, asymptomatic, skin-colored nodules, ranging from 0.5 to 2 cm, on the upper back. Skin biopsy of a nodular lesion showed the same features as observed in the mother's biopsy. Routine blood and serum tests and X-ray examinations were within normal limits. Electrocardiogram revealed an early R-wave transition, and echocardiogram showed a left ventricular dilation with thickened aorta; aortic steno-insufficiency was diagnosed under cardiologic examination. The diagnosis of familial collagenoma was confirmed, and similar cutaneous lesions were found in the mother's grandmother and aunt.