title: [Familial case of Parkes Weber syndrome].
abstract: BACKGROUND
  Parkes-Weber syndrome is usually described as a sporadic form of osteohypertrophic angiodysplasia. However, family forms of Klippel-Trenaunay syndrome have been described. We report the first familial case of Parkes-Weber syndrome.
  
  
  METHODS
  A boy born at 27 weeks and 6 days of amenorrhea with extensive plane angioma of the right lower limb, right lower part of the back and abdomen. We also noted hypertrophy of this member with venous dilatations. Arterial Doppler ultrasound of the right lower limb showed an aneurysmal varix between the vein and the common femoral artery, confirming a diagnosis of Parkes-Weber syndrome. His maternal first cousin, 10 years his senior, also presented Parkes-Weber syndrome of the right upper limb.
  
  
  CONCLUSIONS
  This is the first observation of a familial case of Parkes-Weber syndrome in first cousins. Vascular malformations are transmitted in autosomal dominant fashion in the majority of infected families but with incomplete penetrance and variable expressivity. Symptoms appeared to worsen from generation to generation. In each generation of this family, we noted the presence of hemangiomas or capillary malformations with aggravation in the third generation and onset of Parkes-Weber syndrome. Genetic investigation with linkage analysis for the various members in order to identify a predisposing locus yielded little of interest.
authors.affiliation: Service de Dermatologie, Centre Hospitalier Saint-Philibert, Université Catholique de Lille, Lomme, France.
authors.forename: D
authors.initials: D
authors.lastname: Courivaud
authors.forename: A
authors.initials: A
authors.lastname: Delerue
authors.forename: C
authors.initials: C
authors.lastname: Delerue
authors.forename: L
authors.initials: L
authors.lastname: Boon
authors.forename: F
authors.initials: F
authors.lastname: Piette
authors.forename: P
authors.initials: P
authors.lastname: Modiano
mesh_terms: D001165:Arteriovenous Malformations / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007715:Klippel-Trenaunay-Weber Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree