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Journal of the American Academy of Dermatology
Volume 38, n° 5S
pages 825-830 (mai 1998)
Doi : 10.1016/S0190-9622(98)70467-0
Hereditary epidermolytic palmoplantar keratoderma (Vo ̈rner type) in a family with Ehlers-Danlos syndrome

Mona Zohdi Mofid, MDa, Constantino Costarangos, MDa, Stephen B. Gruber, MD, PhDb, Susan E. Koch, MDc
Baltimore, Maryland 
Department of Dermatologya and The Johns Hopkins Oncology Center,b The Johns Hopkins Hospital; Division of Molecular Medicine and Genetics,b University of Michigan; Assistant Professor of Dermatology,c The Johns Hopkins University School of Medicine 


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.)

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© 1998  American Academy of Dermatology, Inc. Published by Elsevier Masson SAS@@#104157@@