SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma |
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Authors: | Marcial Álvarez-Salafranca MD Mar García-García MD PhD Andrea Montes-Torres MD Ignacio Rivera-Fuertes MD María Teresa López-Giménez MD PhD Mariano Ara MD PhD |
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Affiliation: | 1. Department of Dermatology, Hospital Clínico Universitario “Lozano Blesa”, Zaragoza, Spain;2. Department of Pathology, Hospital Clínico Universitario “Lozano Blesa”, Zaragoza, Spain |
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Abstract: | Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by an aberrant activation of the hedgehog (Hh) pathway, most cases being caused by PTCH1 mutations. However, certain features such as multiple hereditary infundibulocystic basal cell carcinomas (MHIBCC), sclerotic fibromas, childhood medulloblastoma or meningioma may be relatively specific to a SUFU mutation. We present two patients with MHIBCC, along with a more complex cutaneous and extracutaneous phenotype. MHIBCC syndrome and BCNS may share clinical features and, indeed, both syndromes probably represent different degrees of upregulation in the Hh pathway. |
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Keywords: | basal cell carcinoma basal cell nevus syndrome Hedgehog proteins infundibulocystic basal cell carcinoma SUFU protein |
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