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Ehlers–Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype
Author(s) -
Bursztejn A. C.,
Baumann M.,
Lipsker D.
Publication year - 2017
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12983
Subject(s) - phenotype , kyphoscoliosis , medicine , ehlers–danlos syndrome , mutation , myopathy , dermatology , pathology , gene , genetics , biology , scoliosis , surgery
Summary 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 FKBP 14 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 FKBP 14 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 FKBP 14‐deficient EDS and compare it with other kyphoscoliotic variants.