title: Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Dermatology, Nippon Medical School Hospital, Tokyo, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Ichiyama
authors.affiliation: Department of Dermatology, Nippon Medical School Hospital, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Funasaka
authors.affiliation: Department of Dermatology, Nippon Medical School Hospital, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Otsuka
authors.affiliation: Department of Dermatology, Nippon Medical School Hospital, Tokyo, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Takayama
authors.affiliation: Department of Dermatology, Nippon Medical School Hospital, Tokyo, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kawana
authors.affiliation: Department of Dermatology, Nippon Medical School Hospital, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Saeki
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Kubo
mesh_terms: D000052:Acanthosis Nigricans / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D000287:Administration, Topical; D000293:Adolescent; D001706:Biopsy; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006016:Glycolates / Q000008:administration & dosage*; D006801:Humans; D007641:Keratolytic Agents / Q000008:administration & dosage; D009154:Mutation; D010375:Pedigree; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics* / Q000378:metabolism; D012867:Skin / Q000473:pathology*
chemical_list: D006016:Glycolates; D007641:Keratolytic Agents; C031149:glycolic acid; D004247:DNA; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3