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Rothmund-Thomson Syndrome

definition

Autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by saddle nose, congenital bone defects, disturbances in the growth of hair, nails, and teeth, and hypogonadism. Juvenile cataracts develop in about half of patients. Skeletal dysplasia is an important feature of the syndrome. The increased incidence of squamous carcinomas of the skin and osteogenic sarcoma is the major prognostic factor.

synonyms

Rothmund-Thomson Syndrome, Poikilodermia Congenitalis

UMLS

Poikiloderma Congenitale, Poikiloderma congenitale syndrome, Rothmund Thomson Syndrome, Rothmund-Thomson Syndrome, Syndrome, Rothmund-Thomson

images

10 images found for this diagnose localisation: cheek, diagnosis: Rothmund-Thomson Syndrome localisation: buttocks, diagnosis: Rothmund-Thomson Syndrome localisation: wrists, diagnosis: Rothmund-Thomson Syndrome localisation: hands, palms, finger, diagnosis: Rothmund-Thomson Syndrome localisation: cheek, diagnosis: Rothmund-Thomson Syndrome localisation: cheek, diagnosis: Rothmund-Thomson Syndrome localisation: cheek, diagnosis: Rothmund-Thomson Syndrome localisation: finger, diagnosis: Rothmund-Thomson Syndrome localisation: face, arms, back of the hands, diagnosis: Rothmund-Thomson Syndrome localisation: sole, diagnosis: Rothmund-Thomson Syndrome