Rothmund-thomson syndrome in three siblings and development of cutaneous squamous cell carcinoma.
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).
Piquero-Casals
Jaime
J
Department of Dermatology, Hospital Das Clinicas, University of São Paulo, São Paulo, Brazil. Piquero@dermatoligico.com.br
Okubo
Alexandre Y
AY
Nico
Marcello Menta S
MM
D000328:Adult; D001707:Biopsy, Needle; D001938:Brazil; D002294:Carcinoma, Squamous Cell / Q000473:pathology* / Q000601:surgery; D002471:Cell Transformation, Neoplastic; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D011230:Precancerous Conditions / Q000473:pathology*; D018570:Risk Assessment; D011038:Rothmund-Thomson Syndrome / Q000235:genetics / Q000473:pathology*; D035781:Siblings; D012878:Skin Neoplasms / Q000473:pathology* / Q000601:surgery