Rothmund-Thomson syndrome. A case report, phototesting, and literature review.
Rothmund-Thomson syndrome is a rare hereditary syndrome with developmental defects. Characteristics of this syndrome, based on a review of 107 reported cases in the literature, are (in descending order) as follows: early onset of poikiloderma, short stature, absence or sparseness of eyebrow and/or eyelash hair, familial juvenile cataracts, small hands and bone defects, sunlight sensitivity, hypogonadism, defective dentition, nail abnormality, hyperkeratosis, and mental retardation. Recently we encountered a 25-year-old white woman who had developed this syndrome but without juvenile cataracts, hypogonadism, or mental retardation. She had developed a basal cell epithelioma, which has not previously been described in this syndrome. Phototesting with monochromatic radiation and with a solar simulator showed photosensitivity in the ultraviolet A range but not in the ultraviolet B range. This case may represent an example of the Thomson type. The case is described and the literature reviewed.
D000015:Abnormalities, Multiple; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D002386:Cataract; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D010787:Photosensitivity Disorders / Q000175:diagnosis; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis / Q000473:pathology; D012871:Skin Diseases / Q000175:diagnosis / Q000473:pathology; D013577:Syndrome