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Rothmund–Thomson Syndrome in Three Siblings and Development of Cutaneous Squamous Cell Carcinoma
Author(s) -
PiqueroCasals Jaime,
Okubo Alexandre Y.,
Nico Marcello Menta S
Publication year - 2002
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1046/j.1525-1470.2002.00089.x
Subject(s) - genodermatosis , poikiloderma , medicine , cataracts , dermatology , short stature , basal cell , incidence (geometry) , pathology , pediatrics , ophthalmology , biochemistry , chemistry , physics , optics , gene
Abstract: Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. It is characterized by early onset of progressive poikiloderma and several other cutaneous and extracutaneous findings including alopecia, dystrophic teeth and nails, juvenile cataracts, short stature, hypogonadism, and bone defects. There are several reported cases of skin malignancies in RTS patients, indicating a possibly higher incidence of cutaneous and noncutaneous malignancies. We report three siblings with RTS who developed cutaneous squamous cell carcinoma (SCC).