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

S. Ichiyama, Y. Funasaka, Y. Otsuka, R. Takayama, S. Kawana, H. Saeki, Akiharu Kubo

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Background 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). Objective We explored familial AN patients with FGFR3 mutations and examined the effectiveness of glycolic acid (GA) peeling in improving their skin manifestations. Methods 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. Results 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. Conclusion 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.

Original languageEnglish
Pages (from-to)442-445
Number of pages4
JournalJournal of the European Academy of Dermatology and Venereology
Volume30
Issue number3
DOIs
Publication statusPublished - 2016 Mar 1

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glycolic acid
Receptor, Fibroblast Growth Factor, Type 3
Skin Manifestations
Mutation
Genes
Acanthosis Nigricans
Therapeutics
Hyperpigmentation
Inborn Genetic Diseases
Leukocytes
Familial acanthosis nigricans
Skin

ASJC Scopus subject areas

  • Dermatology
  • Infectious Diseases

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Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation. / Ichiyama, S.; Funasaka, Y.; Otsuka, Y.; Takayama, R.; Kawana, S.; Saeki, H.; Kubo, Akiharu.

In: Journal of the European Academy of Dermatology and Venereology, Vol. 30, No. 3, 01.03.2016, p. 442-445.

Research output: Contribution to journalArticle

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AU - Kawana, S.

AU - Saeki, H.

AU - Kubo, Akiharu

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N2 - Background 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). Objective We explored familial AN patients with FGFR3 mutations and examined the effectiveness of glycolic acid (GA) peeling in improving their skin manifestations. Methods 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. Results 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. Conclusion 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.

AB - Background 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). Objective We explored familial AN patients with FGFR3 mutations and examined the effectiveness of glycolic acid (GA) peeling in improving their skin manifestations. Methods 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. Results 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. Conclusion 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.

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