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Acanthosis nigricans, hypochondroplasia, and FGFR 3 mutations: Findings with five new patients, and a review of the literature
Author(s) -
Muguet Guenot Louise,
Aubert Helene,
Isidor Bertrand,
Toutain Annick,
MazereeuwHautier Juliette,
Collet Corinne,
Bourrat Emmanuelle,
Denis Musquer Marie,
Barbarot Sébastien
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13748
Subject(s) - acanthosis nigricans , medicine , seborrheic keratosis , dermatology , mutation , abdomen , pathology , genetics , anatomy , obesity , biology , insulin resistance , gene
Early development of extensive acanthosis nigricans ( AN ) is a key feature in some patients who have hypochondroplasia ( HCH ) in association with FGFR 3 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 FGFR 3 .