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KRIT1-positive hyperkeratotic cutaneous capillary venous malformation.
Matarneh, Bayan; Cottrell, Catherine E; Choi, Samantha; Pearson, Gregory; Fung, Bonita; Koo, Selene C; Lillis, Anna P; Ho, Mai-Lan; Fernandez Faith, Esteban.
Afiliación
  • Matarneh B; Division of Dermatology, Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Cottrell CE; The Ohio State University College of Medicine, Columbus, Ohio, USA.
  • Choi S; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Pearson G; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Fung B; The Ohio State University College of Medicine, Columbus, Ohio, USA.
  • Koo SC; Department of Pediatric Plastic and Reconstructive Surgery, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Lillis AP; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Ho ML; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Fernandez Faith E; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Pediatr Dermatol ; 39(2): 250-254, 2022 Mar.
Article en En | MEDLINE | ID: mdl-34964173
Cerebral cavernous malformations (CCM) may present in sporadic or familial forms, with different cutaneous manifestations including deep blue nodules, capillary malformations, and hyperkeratotic cutaneous capillary venous malformations (HCCVM). We report the case of an infant with a KRIT1-positive HCCVM associated with familial CCM. Moreover, histopathology showed positive immunohistochemical stain with GLUT1, further expanding the differential diagnosis of GLUT1-positive vascular anomalies.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Vasculares / Hemangioma Cavernoso del Sistema Nervioso Central / Malformaciones Vasculares Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Pediatr Dermatol Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Vasculares / Hemangioma Cavernoso del Sistema Nervioso Central / Malformaciones Vasculares Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Pediatr Dermatol Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos