title: Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities.
abstract: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by the absence of active cathepsin K, which is a lysosomal cysteine protease that plays a role in degrading the organic matrix of bones, acting in bone resorption and bone remodeling. The disease is primarily characterized by osteosclerosis, bone fragility, short stature, acro-osteolysis, and delayed closure of the cranial sutures. A differing feature, cranial synostosis, has occasionally been described in this disorder. We reviewed six unrelated patients with pycnodysostosis (mean age of 10 years and 4 months) in order to evaluate the presence of craniosynostosis. In addition to the typical findings of the condition, they all presented premature fusion of the coronal suture. Although none of them showed signs of cranial hypertension, one patient had had the craniosynostosis surgically corrected previously. These data suggest that the cranial sutures in pycnodysostosis can display contradictory features: wide cranial sutures, which are commonly described, and craniosynostosis. The clinical impact of this latter finding still remains to be elucidated. Further studies are necessary to address more precisely the role of cathepsin K in suture patency.
authors.affiliation: Unidade de Genética, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil. debora.bertola@icr.usp.br
authors.forename: Débora
authors.initials: D
authors.lastname: Bertola
authors.forename: Cassio
authors.initials: C
authors.lastname: Amaral
authors.forename: Chong
authors.initials: C
authors.lastname: Kim
authors.forename: Lilian
authors.initials: L
authors.lastname: Albano
authors.forename: Meire
authors.initials: M
authors.lastname: Aguena
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Passos-Bueno
mesh_terms: D056657:Cathepsin K / Q000235:genetics; D002648:Child; D003394:Craniofacial Dysostosis / Q000150:complications / Q000235:genetics*; D003398:Craniosynostoses / Q000150:complications / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008334:Mandible / Q000002:abnormalities; D009154:Mutation; D012598:Sclerosis / Q000150:complications / Q000235:genetics; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
chemical_list: C534130:CTSK protein, human; D056657:Cathepsin K