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Acanthosis nigricans in achondroplasia
Cory J Smid1, Peggy Modaff1,2, Adekemi Alade3
1Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
American Journal of Medical Genetics. Part A
|November 1, 2018
Summary
Acanthosis nigricans (AN) affects about 10% of individuals with achondroplasia, typically appearing in adolescence. This common skin condition in achondroplasia requires no special investigation or treatment.
Area of Science:
- Genetics
- Dermatology
- Endocrinology
Background:
- Acanthosis nigricans (AN) is occasionally reported in achondroplasia patients.
- FGFR3-related disorders also show variable AN frequencies.
Purpose of the Study:
- To determine the prevalence of AN in achondroplasia.
- To identify co-occurring medical issues with AN in achondroplasia.
Main Methods:
- A sequential series of 477 individuals with achondroplasia were assessed.
- A REDCap database was used for data collection and analysis.
Main Results:
- AN prevalence in achondroplasia is approximately 10%.
- AN typically manifests in preadolescence/adolescence, more in non-White and obese individuals.
- AN is not associated with hyperinsulinemic states or malignancy and requires no special investigation.
Conclusions:
- Clinicians should not be concerned by AN in achondroplasia patients.
- AN in achondroplasia is generally mild, not indicative of severe underlying conditions.
- Mechanisms and genetic causes of AN are further detailed.
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