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Hypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndrome.
Welfringer-Morin, Anne; Pinto, Graziella; Baujat, Geneviève; Vial, Yoann; Hadj-Rabia, Smail; Bodemer, Christine; Boccara, Olivia.
Afiliación
  • Welfringer-Morin A; Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), APHP, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Université de Paris, Paris, France.
  • Pinto G; Department of Endocrinology and Diabetology, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Necker-Enfants Malades, Université de Paris, Paris, France.
  • Baujat G; Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Necker-Enfants Malades, Université de Paris, Paris, France.
  • Vial Y; Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Paris, France.
  • Hadj-Rabia S; INSERM UMR S1131, Institut Universitaire d'Hématologie, Université de Paris, Paris, France.
  • Bodemer C; Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), APHP, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Université de Paris, Paris, France.
  • Boccara O; Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), APHP, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Université de Paris, Paris, France.
Pediatr Dermatol ; 37(3): 541-544, 2020 May.
Article en En | MEDLINE | ID: mdl-32157705
ABSTRACT
We report the case of a child who presented with a giant melanocytic nevus with numerous satellite nevi at birth and developed hypophosphatemic rickets due to excessive secretion of the FGF23 hormone. A NRAS c.182A>G (Q61R) mutation was identified in the lesional skin. The functional outcome was favorable with medical treatment.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Raquitismo Hipofosfatémico / Nevo / Nevo Pigmentado Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Newborn Idioma: En Revista: Pediatr Dermatol Año: 2020 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Raquitismo Hipofosfatémico / Nevo / Nevo Pigmentado Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Newborn Idioma: En Revista: Pediatr Dermatol Año: 2020 Tipo del documento: Article País de afiliación: Francia