Welfringer-Morin Anne, Pinto Graziella, Baujat Geneviève, Vial Yoann, Hadj-Rabia Smail, Bodemer Christine, Boccara Olivia
Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), APHP, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Université de Paris, Paris, France.
Department of Endocrinology and Diabetology, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Necker-Enfants Malades, Université de Paris, Paris, France.
Pediatr Dermatol. 2020 May;37(3):541-544. doi: 10.1111/pde.14139. Epub 2020 Mar 10.
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.
我们报告了一例患儿，其出生时即患有巨大黑素细胞痣并伴有众多卫星痣，且因成纤维细胞生长因子23（FGF23）激素分泌过多而患上低磷性佝偻病。在病变皮肤中检测到NRAS基因c.182A>G（Q61R）突变。经药物治疗后，功能预后良好。
