title: Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype.
abstract: In 2012, a new Ehlers-Danlos (ED) variant, characterized by severe progressive kyphoscoliosis, neonatal myopathy and hearing loss, with normal urinary lysylpyridinoline to hydroxylysylpyridinoline ratio and most often a recurrent homozygous mutation in the FKBP14 gene, was reported. Because one of the major affected tissues in ED syndrome is the skin, recognition of the cutaneous features of this newly recognized EDS variant is important. We describe the cutaneous phenotype of an adolescent girl harbouring the recurrent homozygous FKBP14 mutation. Distinctive features included molluscoid pseudotumours and multiple isolated comedones. Molluscoid pseudotumours are a characteristic finding in patients with the classic ED variant, but are rarely reported in other variants. We discuss the cutaneous phenotype of FKBP14-deficient EDS and compare it with other kyphoscoliotic variants.
authors.affiliation: Dermatology Department, University Hospital of Strasbourg, Strasbourg, France.
authors.forename: A C
authors.initials: AC
authors.lastname: Bursztejn
authors.affiliation: Department of Paediatrics I, Paediatric Neurology and Inherited Metabolic Disorders, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: M
authors.initials: M
authors.lastname: Baumann
authors.affiliation: Dermatology Department, University Hospital of Strasbourg, Strasbourg, France.
authors.forename: D
authors.initials: D
authors.lastname: Lipsker
mesh_terms: D000293:Adolescent; D001706:Biopsy; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006720:Homozygote; D006801:Humans; D009154:Mutation; D019696:Peptidylprolyl Isomerase / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D012867:Skin / Q000473:pathology*
chemical_list: D004247:DNA; C572897:FKBP14 protein, human; D019696:Peptidylprolyl Isomerase