Trichoepithelioma.
A 29-year-old man presented with a long-standing history of asymptomatic, skin-colored, facial papules and nodules. Histopathologic examination of a representative papule demonstrated trichoepithelioma. The patient had a history of a brother with a similar phenotype, which suggests a diagnosis of familial trichoepithelioma. Linkage and mutational analyses support genetic heterogeneity of familial trichoepithelioma, possibly sharing a clinical spectrum with Brooke-Spiegler syndrome and familial cylindromatosis since each entity has been associated with mutations the CYLD gene.
Johnson
Hillary
H
Department of Dermatology, New York University, USA.
Robles
Mirin
M
Kamino
Hideko
H
Walters
Ruth F
RF
Lee
Arnold
A
Sanchez
Miguel
M
D000328:Adult; D003528:Carcinoma, Adenoid Cystic / Q000235:genetics; D000074749:Deubiquitinating Enzyme CYLD; D005153:Facial Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D016147:Genes, Tumor Suppressor; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D018295:Neoplasms, Basal Cell / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000502:physiology
D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD