- BACKGROUND: Pycnodysostosis is a rare autosomal recessive lysosomal disorder of bone characterized by diffuse skeletal condensation with thickening of the cortex and narrowing of the medullary canal. (bvsalud.org)
- Kundu ZS, Marya KM, Devgan A, Yadav V, Rohilla S. Subtrochanteric fracture managed by intramedullary nail in a patient with pycnodysostosis. (bsl.nl)
- Bor N, Rubin G, Rozen N. Fracture management in pycnodysostosis: 27 years of follow-up. (bsl.nl)
- Yuasa T, Maeda K, Kaneko K, Yoshikata K. Total Hip Arthroplasty after treatment of an atypical subtrochanteric femoral fracture in a patient with pycnodysostosis. (bsl.nl)
- CASE PRESENTATION: We present the case of a 4-year-old girl diagnosed with pycnodysostosis and associated pathological tibial fracture. (bvsalud.org)
- CONCLUSION: The presentation of pycnodysostosis as tibial fracture is rare and there is limited literature on its management. (bvsalud.org)
- Pycnodysostosis is one of those disorders which has a typical facial gestalt and can be clinically identified in the majority of cases. (wikipedia.org)
- Pycnodysostosis is characterized by short-limbed short stature, typical facial appearance (convex nasal ridge and small jaw with obtuse mandibular angle), osteosclerosis with increased bone fragility, acroosteolysis of the distal phalanges, delayed closure of the cranial sutures, and dysplasia of the clavicle. (nih.gov)
- The well-known clinical-based classification of ectodermal dysplasias (EDs) proposed by Freire-Maia [1971, 1977] lies on the occurrence of alterations in hair, teeth, nails, and sweat glands, whose frequencies are 87.1%, 78.5%, 73%, and 37.4%, respectively. (docksci.com)
- Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", dys ("defective"), and ostosis ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD. (wikipedia.org)
- The treatment of pycnodysostosis is currently based on symptomatic management and no active trials are in place for a curative approach. (wikipedia.org)
- Atypical femur fractures in a patient with pycnodysostosis: a case report. (bsl.nl)
- Pycnodysostosis presenting with bilateral subtrachanteric fractures: case report. (bsl.nl)
- Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. (bsl.nl)
- Additional features include dental and nail anomalies. (nih.gov)
- Due to the limited number of exons of the CTSK gene that causes pycnodysostosis, a cheaper genetic testing called Sanger sequencing can be employed to confirm the diagnosis. (wikipedia.org)
- The diagnosis of pycnodysostosis can be established in a proband with characteristic clinical and radiographic features and/or biallelic pathogenic variants in CTSK identified by molecular genetic testing. (nih.gov)
- Today, DNA analysis would easily confirm the suspected diagnosis of pycnodysostosis. (medscape.com)
- Pycnodysostosis is inherited in an autosomal recessive manner. (nih.gov)
- Now, intramedullary nailing provides fixation for patients with this inherited bone disorder, with long-term satisfactory results. (medscape.com)
- The molecular basis of pycnodysostosis was elucidated in 1996 by Gelb and collaborators and the disorder results from biallelic pathogenic mutation in CTSK gene (OMIM * 601105). (wikipedia.org)
- Pycnodysostosis should be suspected in probands with the following clinical, radiographic, and laboratory findings. (nih.gov)
- Pycnodysostosis is a rare genetic condition that leads to generalised bony sclerosis and increased fracture risk. (bvsalud.org)
- Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", dys ("defective"), and ostosis ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD. (wikipedia.org)
- [ 10 ] The presence of an intramedullary nail is also likely to reduce the risk for a repeat fracture in the same bone. (medscape.com)
- 209. It is advantageous to leave the intramedullary nails in place for at least 3 months if possible. (dnbforexpriceaction.com)
- Though elastic nailing is preferred for paediatric long bone fractures, surgeons must be prepared for extremely sclerotic cortices and a narrow medullary canal when dealing with patients with pycnodysostosis. (bvsalud.org)
- Initially, an attempt using the Titanium Elastic Nailing System was made, but the sclerotic metaphyseal bone made it challenging. (bvsalud.org)
- Formal diagnostic criteria for pycnodysostosis have not been established, however the radiographic features of acroosteolysis, osteosclerosis, and loss of the normal angle of the jaw are almost pathognomonic. (nih.gov)