Hereditary epidermolytic palmoplantar keratoderma (Vo ̈rner type) in a family with Ehlers-Danlos syndrome

We describe a kindred in whom epidermolytic palmoplantar keratoderma occurred in association with Ehlers-Danlos syndrome type III (benign hypermobility syndrome). This kindred consisted of 27 members of four generations, 14 of whom had palmoplantar keratoderma (PPK). Of those who had palmoplantar ke...

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Bibliographic Details
Published in:Journal of the American Academy of Dermatology 1998-05, Vol.38 (5), p.825-830
Main Authors: Mofid, Mona Zohdi, Costarangos, Constantino, Gruber, Stephen B., Koch, Susan E.
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Child
Child, Preschool
Dermatology
Dyskeratosis
Ehlers-Danlos Syndrome - genetics
Epidermolysis Bullosa - genetics
Female
Gene Frequency
Genetic Linkage - genetics
Humans
Keratoderma, Palmoplantar - classification
Keratoderma, Palmoplantar - genetics
Male
Medical sciences
Pedigree
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Summary:We describe a kindred in whom epidermolytic palmoplantar keratoderma occurred in association with Ehlers-Danlos syndrome type III (benign hypermobility syndrome). This kindred consisted of 27 members of four generations, 14 of whom had palmoplantar keratoderma (PPK). Of those who had palmoplantar keratoderma, 6 had Ehlers-Danlos type III (EDS III). The proband presented with diffuse, symmetrical hyperkeratotic plaques that were yellow and sharply demarcated, covering the entire palms and soles, in addition to marked large and small joint flexibility and skin hyperextensibility. A biopsy specimen from the palm revealed features of epidermolytic hyperkeratosis with acanthosis. To our knowledge, this is the first report of PPK in a family with Ehlers-Danlos syndrome. Linkage analysis of these two clinical traits showed that the genes responsible for PPK and EDS III are not closely linked, and therefore are not immediately adjacent. However, linkage at greater genetic distances could not be excluded. (J Am Acad Dermatol 1998;38:825-30.)
ISSN:0190-9622
1097-6787
DOI:10.1016/S0190-9622(98)70467-0