What Syndrome Is This?

An African-American boy developed blistering on the extremities two days after birth. During infancy, many of the blisters were caused by trauma. Blistering continued to persist until he was 3 years of age and then gradually subsided. No photosensitivity was present. Within the first year of life he developed atrophy of his skin, most pronounced over his knees and the dorsa of his hands and feet. At approximately 5 years of age, irregular hypopigmented and hyperpigmented areas appeared over his face and neck, and gradually progressed to include the proximal extremities and trunk (Fig. 1). At age 12, he began to experience swollen and easily bleeding gums. On physical examination his skin was dry over his entire body, with cigarette paperlike thinning and wrinkling over the atrophic areas (Fig. 2). Hair, nails, and teeth were normal. A blister could not be elicited with pressure. No keratotic papules were present on the palms and soles. Family history was negative for similar skin disorders and consanguinity. Complete blood cell count, antinuclear antibodies, porphyria screen in urine and blood, and immunoglobulin levels were all normal. A biopsy specimen of the dorsum of the hand demonstrated thinning of the epidermis. In the dermis, dilated capillaries, melanophages, and pigmentary incontinence with fibrosis of the upper dermis Figure 1. The arm of a 13-year-old African-American boy with poikiloderma.