title: Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene.
abstract: Dyskeratosis congenital is reported in two siblings. They presented with the classic triad of mucocutaneous features: leukoplakia of the tongue, dystrophic nails, and a widespread reticulate pigmentation on the neck and upper chest. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in both patients. Acitretin was started at a low-dose in both patients, resulting in clinical improvement and important, positive psychosocial effects.
authors: Dermatology Department, Centro Hospitalar Lisboa Central, Lisbon, Portugal. joanadiascoelho@hotmail.com
authors: Joana Dias
authors: JD
authors: Coelho
authors: Sara
authors: S
authors: Lestre
authors: Teresa
authors: T
authors: Kay
authors: Maria João Paiva
authors: MJ
authors: Lopes
authors: Teresa
authors: T
authors: Fiadeiro
authors: Margarida
authors: M
authors: Apetato
mesh_terms: D017255:Acitretin / Q000627:therapeutic use; D000293:Adolescent; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D019871:Dyskeratosis Congenita / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D007641:Keratolytic Agents / Q000627:therapeutic use; D008297:Male; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D035781:Siblings
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D007641:Keratolytic Agents; D009687:Nuclear Proteins; D017255:Acitretin