Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation

Journal of the European Academy of Dermatology and Venereology : JEADV
S IchiyamaA Kubo

Abstract

Acanthosis nigricans (AN) can occur as a cutaneous manifestation of genetic diseases, one of which is associated with activating mutations of the fibroblast growth factor receptor 3 gene (FGFR3). We explored familial AN patients with FGFR3 mutations and examined the effectiveness of glycolic acid (GA) peeling in improving their skin manifestations. Sanger sequencing was performed for the genomic DNA extracted from leucocytes of the family members involving familial AN. GA peeling was carried out for the two patients of familial AN once every 2 weeks. Heterozygous c.1949A>C (p.K650T) mutation in FGFR3 was identified for the affected family members examined, whereas the wild-type sequence was found for two unaffected individuals. Hyperpigmentation and coarseness of the skin were improved by GA peeling at regular intervals with few adverse effects. We diagnosed our cases as familial generalized AN caused by heterozygous c.1949A>C (p.K650T) mutation of FGFR3. We propose that GA peeling is a useful and safe therapeutic option to treat familial AN.

References

Jul 1, 1994·Journal of the American Academy of Dermatology·V A AkovbyanM K Kang
Sep 1, 1996·Seminars in Cutaneous Medicine and Surgery·H P Ragland, E McBurney
Feb 6, 2004·Experimental Dermatology·Akiko UsukiYoko Funasaka
Jan 22, 2005·Experimental Dermatology·T HorikoshiY Funasaka
Feb 14, 2006·The Journal of Dermatology·Yuki YamamotoFukumi Furukawa
Oct 17, 2006·The Journal of Dermatology·Fukumi Furukawa, Yuki Yamamoto
Sep 19, 2007·Archives of Dermatology·David R BerkSusan J Bayliss
May 11, 2010·Dermatology : International Journal for Clinical and Investigative Dermatology·M BlombergE Benfeldt
Jul 9, 2011·Annals of Dermatology·Jin Seob JeongTae Young Yoon
Aug 29, 2014·Indian Dermatology Online Journal·Meghana Madhukar Phiske
Feb 14, 2015·Genes & Diseases·Chad M TevenRussell R Reid

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Citations

Nov 1, 2018·American Journal of Medical Genetics. Part a·Cory J SmidRichard M Pauli
Feb 15, 2019·Pediatric Dermatology·Louise Muguet GuenotUNKNOWN Groupe de Recherche de la Société Française de Dermatologie Pédiatrique
Feb 10, 2017·American Journal of Medical Genetics. Part a·Natario L CouserCynthia M Powell
Oct 14, 2017·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Hiroki HiraiEiichi Ishii
Oct 27, 2017·The Journal of Dermatology·Kensuke FukuchiYoshiki Tokura
Jan 5, 2019·Orphanet Journal of Rare Diseases·Richard M Pauli

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