[Generalized pseudoxanthoma elasticum combined with vitamin K dependent clotting factors deficiency]

Ann Dermatol Venereol. 1996;123(9):555-8.
[Article in French]

Abstract

Introduction: Pseudoxanthoma elasticum is a connective tissue disease currently classed in 4 forms. Two forms are inherited via dominant autosomal transmission and the other two via recessive autosomal transmission. The generalized form of pseudoxanthoma elasticum is the most uncommon form and corresponds to recessive type II. Clinical manifestations include the typical generalized "peau d'orange" skin associated with hyperlaxity of the skin. Usually, there is no systemic manifestation.

Case report: We report a case of a patient with generalized pseudoxanthoma elasticum associated with deficiency of vitamin-K dependent factors II, VII, IX, and X. A search for other causes of vitamin-K dependent factor deficiency was negative.

Discussion: The association of generalized pseudoxanthoma elasticum with deficiency of vitamin-K dependent clotting factors has been reported previously in very rare cases and is probably not fortuitous. It could led to the definition of a sub-group of recessive autosomal pseudoxanthoma elasticum.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Blood Coagulation Disorders / blood*
  • Factor VII Deficiency / complications
  • Factor X Deficiency / complications
  • Humans
  • Hypoprothrombinemias / blood*
  • Male
  • Prothrombin Time
  • Pseudoxanthoma Elasticum / complications*
  • Pseudoxanthoma Elasticum / genetics
  • Pseudoxanthoma Elasticum / pathology
  • Vitamin K Deficiency / complications*
  • Vitamin K Deficiency / genetics