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Few cases of isolated (non-syndromic, non-endocrinopathy) cases of familial acanthosis nigricans (FAN) have been described, and most without genetic testing. We present a three-generation family with isolated FAN, whose genetic… Click to show full abstract
Few cases of isolated (non-syndromic, non-endocrinopathy) cases of familial acanthosis nigricans (FAN) have been described, and most without genetic testing. We present a three-generation family with isolated FAN, whose genetic study revealed an heterozygous FGFR3 gene variant [NM_0001425: c.2302G>T; p.(Glu768Ter); E768X]. This work presents this mutation linked to isolated FAN, and suggests genetic mechanisms that could explain the pro-mitogenic effect on the skin without bone involvement and the spectrum of clinical manifestations associated to germline FGFR3 mutations.
Journal Title: Clinical and experimental dermatology
Year Published: 2023
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