title: Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
abstract: OBJECTIVE
  Due to the occasional association pathological fractures and osteoporosis we evaluated four patients with cutis laxa syndrome for skeletal anomalies.
  
  
  METHODS
  We prospectively evaluated four patients, a male and a female child and a brother-sister sib pair, with dysmorphic features, growth delay, joint anomalies, psychomotor retardation and congenital cutis laxa. The clinical features and the family history were suggestive for autosomal recessive cutis laxa syndrome type II, partially overlapping with geroderma osteodysplastica. Skeletal survey, sequential bone density measurements, endocrine and metabolic investigations were performed including N- and O-linked glycosylation analysis. ATP6V0A2 and FBLN5 mutations were ruled out in all patients.
  
  
  RESULTS
  All children were diagnosed with significantly decreased bone density, especially in the lumbar spine, including spontaneous vertebral and rib fractures in three children. Following 24 months of bisphosphonate treatment a total restitution of bone density was observed in three cases and no relapse was detected in the 2-year follow-up period. A spontaneous improvement was found in one female during puberty.
  
  
  CONCLUSIONS
  Bone disease might occur early in the course in autosomal recessive cutis laxa syndrome. We report on a significant clinical improvement and stabilization in our patients following bisphosphonate therapy. We suggest early, systemic evaluation and follow up of bone density in all children presenting with inherited cutis laxa.
authors.affiliation: Departments of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: C
authors.initials: C
authors.lastname: Noordam
authors.forename: S
authors.initials: S
authors.lastname: Funke
authors.forename: N V
authors.initials: NV
authors.lastname: Knoers
authors.forename: P
authors.initials: P
authors.lastname: Jira
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: Z
authors.initials: Z
authors.lastname: Urban
authors.forename: E
authors.initials: E
authors.lastname: Morava
mesh_terms: D015519:Bone Density; D001847:Bone Diseases / Q000188:drug therapy / Q000209:etiology; D002675:Child, Preschool; D003483:Cutis Laxa / Q000150:complications / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D004164:Diphosphonates / Q000627:therapeutic use; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D011446:Prospective Studies
chemical_list: D004164:Diphosphonates