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

✍ Scribed by Mona Zohdi Mofid; Constantino Costarangos; Stephen B. Gruber; Susan E. Koch


Book ID
117396521
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
125 KB
Volume
38
Category
Article
ISSN
1097-6787

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The parents of a child with the clinical symptoms of Ehlers-Danlos syndrome type VI were identified as third-degree cousins. Biochemical analysis of the dermis of the patient revealed a complete lack of hydroxylysine in the dermal collagen. The dermis of both parents contained only half the amount o