Acanthosis nigricans in achondroplasia

Acanthosis nigricans (AN) in those with achondroplasia has been reported occasionally in the literature previously. Other disorders arising from constitutive activation of FGFR3 also manifest AN at various frequencies. We assessed the prevalence of AN in a sequential series of 477 individuals with a...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2018-12, Vol.176 (12), p.2630-2636
Main Authors: Smid, Cory J., Modaff, Peggy, Alade, Adekemi, Legare, Janet M., Pauli, Richard M.
Format: Article
Language:English
Subjects:
Acanthosis nigricans
Achondroplasia
Adolescents
FGFR3
Fibroblast growth factor receptors
Malignancy
pleiotropy
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Summary:Acanthosis nigricans (AN) in those with achondroplasia has been reported occasionally in the literature previously. Other disorders arising from constitutive activation of FGFR3 also manifest AN at various frequencies. We assessed the prevalence of AN in a sequential series of 477 individuals with achondroplasia. Using a REDCap database, we collected and analyzed what other features or medical issues may co‐occur with AN in those with achondroplasia. AN arises in approximately 10% of individuals with achondroplasia. It usually first appears in preadolescence or adolescence, is more likely in the non‐White population and in those who are obese. It is not severe and generally will need no treatment. It is not associated with any evident risk for neither hyperinsulinemic states nor malignancy, and therefore, no special investigations are warranted when it is recognized. Thus, clinicians should not be surprised or concerned upon discovering this finding in those with achondroplasia. In addition, the mechanisms and genetic causes of AN are detailed.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.40506