title: Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology.
abstract: BACKGROUND
  This study describes 12 cases of restrictive dermopathy seen during a period of 8 years by the Dutch Task Force on Genodermatology. We present these unique consecutive cases to provide more insight into the clinical picture and pathogenesis of the disease.
  
  
  METHODS
  Clinical features in more than 85% of these children were prematurity, fixed facial expression, micrognathia, mouth in O position, rigid and tense skin with erosions and denudations, and multiple joint contractures. Ten patients underwent histopathologic skin biopsy. The biopsy results showed flattening of rete ridges in all 10 patients, a thin dermis with collagen aligned parallel to the epidermis in 9 patients, and poorly developed dermal appendages in 9 patients. Additional findings in individual patients included blepharophimosis, inguinal skin tear, skin tear in the frontal neck area that developed during delivery, absent eyelashes, a wide ascendent aorta, and dextrocardia. Fibroblast cultures taken from 5 patients did not show abnormal alpha 2 beta 1 and alpha 1 beta 1 integrin expressions.
  
  
  CONCLUSIONS
  The alleged rarity of restrictive dermopathy may be partially caused by medical unfamiliarity with this entity, despite its characteristic clinical and histopathologic picture. The pathogenesis of the disease still needs to be elucidated.
authors.affiliation: Department of Dermatovenereology, University of Amsterdam, the Netherlands.
authors.forename: J H
authors.initials: JH
authors.lastname: Smitt
authors.forename: C J
authors.initials: CJ
authors.lastname: van Asperen
authors.forename: C M
authors.initials: CM
authors.lastname: Niessen
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: A J
authors.initials: AJ
authors.lastname: van Essen
authors.forename: R F
authors.initials: RF
authors.lastname: Hulsmans
authors.forename: A P
authors.initials: AP
authors.lastname: Oranje
authors.forename: P M
authors.initials: PM
authors.lastname: Steijlen
authors.forename: E
authors.initials: E
authors.lastname: Wesby-van Swaay
authors.forename: P
authors.initials: P
authors.lastname: Tamminga
authors.forename: E J
authors.initials: EJ
authors.lastname: Breslau-Siderius
mesh_terms: D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D012868:Skin Abnormalities; D013577:Syndrome