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1.
Australas J Dermatol ; 64(2): 249-254, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36825822

RESUMEN

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.


Asunto(s)
Síndrome del Nevo Basocelular , Carcinoma Basocelular , Neoplasias Meníngeas , Humanos , Síndrome del Nevo Basocelular/genética , Proteínas Hedgehog , Carcinoma Basocelular/genética , Carcinoma Basocelular/patología , Proteínas Represoras/genética
2.
Dermatol Online J ; 27(3)2021 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-33865277

RESUMEN

Pyoderma gangrenosum is characteristically associated with inflammatory bowel disease. However, the association between this neutrophilic dermatosis and diverticular disease is scarcely mentioned in the literature. Diverticulitis should be included in the differential diagnosis in patients with pyoderma gangrenosum and gastrointestinal complaints, or even in asymptomatic patients, particularly in the elderly. Misdiagnosis can lead to inadequate treatments and serious complications.


Asunto(s)
Diverticulitis del Colon/complicaciones , Piodermia Gangrenosa/etiología , Anciano de 80 o más Años , Antibacterianos/uso terapéutico , Clindamicina/uso terapéutico , Diagnóstico Diferencial , Diverticulitis del Colon/diagnóstico , Diverticulitis del Colon/tratamiento farmacológico , Quimioterapia Combinada , Femenino , Glucocorticoides/uso terapéutico , Humanos , Metronidazol/uso terapéutico , Prednisona/uso terapéutico , Piodermia Gangrenosa/diagnóstico , Piodermia Gangrenosa/tratamiento farmacológico
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