title: Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing.
abstract: BACKGROUND
  The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types. While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities.
  
  
  METHODS
  Three patients initially diagnosed with DUH were included. The gene test was carried out by targeted gene sequencing. All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity.
  
  
  RESULTS
  Family pedigree and clinical presentations were reported in 3 patients from two Chinese families. All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications. Different pathogenic genes in these patients with similar phenotype were identified: One novel mutation on ADAR1 (c. 1325C>G) and one recurrent mutation in ABCB6 (c. 1270T>C), which successfully distinguished two diseases with the similar phenotype.
  
  
  CONCLUSIONS
  Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.
authors.forename: Jia-Wei
authors.initials: JW
authors.lastname: Liu
authors.forename: Jun
authors.initials: J
authors.lastname: Sun
authors.forename: Sergio
authors.initials: S
authors.lastname: Vano-Galvan
authors.forename: Feng-Xia
authors.initials: FX
authors.lastname: Liu
authors.forename: Xiu-Xiu
authors.initials: XX
authors.lastname: Wei
authors.affiliation: Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
authors.forename: Dong-Lai
authors.initials: DL
authors.lastname: Ma
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000243:Adenosine Deaminase / Q000235:genetics; D000293:Adolescent; D044466:Asian People; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D010859:Pigmentation Disorders / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D012873:Skin Diseases, Genetic / Q000175:diagnosis* / Q000235:genetics
chemical_list: C107991:ABCB6 protein, human; D018528:ATP-Binding Cassette Transporters; D016601:RNA-Binding Proteins; C000595356:ADAR protein, human; D000243:Adenosine Deaminase