Dyskeratosis congenita in an ethnic Chinese girl

A 17-year-old Chinese woman presented in March 1994 with a 10-year history of pigmentary skin changes. She was otherwise asymptomatic except for excessive lacrimation in the recent few months. Her parents' marriage was not consanguineous. Ten years earlier, her father had died from lung cancer at the age of 54 years. Her mother and older brother are well. There was no family history of skin disease and anemia on the maternal side. Paternal grandparents died at an old age with no history of skin and hematologic diseases. On clinical examination there was generalized brownish hyperpigmentation with striking reticulation on the neck (Fig. 1), face, flexural areas, and anterior thighs. On top of these, there were patchy areas of slightly hypopigmented atrophic skin. There was fine telangiectatic erythema over the cheeks. The nails were dystrophic (Fig. 2) with ridging and pterygium formation. There was loss of dermatoglyphics with shiny finger tips and prominent hyperhidrosis of palms and soles. In addition, she had discolored teeth with caries and dystrophic enamel (Fig. 3). The buccal mucosa contained flecks of pigmentation. The tongue was dystrophic with patches of leukokeratosis. There were no palmoplantar hyperkeratosis, acrocyanosis, or bullous eruption. Physical and mental development were normal. There was no splenomegaly nor genital abnormalities. The laboratory investigations included full blood counts, hepatic and renal function tests, and immunoglobulin levels; they were all within normal limits. Chest-roentgenogram and skeletal surveys were unremarkable. A skin biopsy revealed poikiloderma with atrophic epidermis, prominent melanophages, and telangiectasia in the superficial dermis. Given the clinical features of reticulate hyperpigmentation, nail dystrophy, oral leukoplakia, dental caries, and epiphora, the patient was diagnosed as having dyskeratosis congenita.