Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
Pediatr Dermatol
; 36(2): 242-246, 2019 Mar.
Article
em En
| MEDLINE
| ID: mdl-30762251
ABSTRACT
Early development of extensive acanthosis nigricans (AN) is a key feature in some patients who have hypochondroplasia (HCH) in association with FGFR3 mutations. We here report regarding five new patients with HCH who exhibited AN, and we compare their characteristics to the eight patients previously described in the literature. In these patients, the AN lesions began in childhood, and they were extensive. These lesions were located on the torso, the abdomen, and the face, in addition to the typical skin fold sites. Other skin lesions were frequently reported café-au-lait macules, melanocytic nevi, lentigines, and seborrheic keratosis. The Lys650Thr mutation was the predominant reported mutation of FGFR3.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osso e Ossos
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Deformidades Congênitas dos Membros
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Nanismo
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Receptor Tipo 3 de Fator de Crescimento de Fibroblastos
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Acantose Nigricans
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Lordose
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adult
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Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Pediatr Dermatol
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
França