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Hyung Keun Song, Young Bae Sohn, Yong Jun Choi, Yoon-Sok Chung, Ja-Hyun Jang
RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, craniofacial dysmorphism, acro-osteolysis, osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from the deficient activity of cathepsin K, a lysosomal cysteine protease that is encoded by CTSK. PATIENT CONCERNS: We report a Korean adult patient with pycnodysostosis and atypical femur fracture whose diagnosis was confirmed by next-generation sequencing (NGS) of candidate genes...
March 2017: Medicine (Baltimore)
Tao Jiang, Fen Liu, Wei-Guang Wang, Xin Jiang, Xuan Wen, Kai-Jin Hu, Yang Xue
Cathepsin K (CTSK) is a member of cysteine proteinase family, and is predominantly expressed in osteoclastsfor degradationof bone matrix proteins. Given the similarity in physical properties of bone and dental mineralized tissues, including enamel, dentin and cementum, CTSK is likely to take part in mineralization process during odontogenesis. On the other hand, patients with pycnodysostosis caused by mutations of the CTSK gene displayedmultipledental abnormalities, such as hypoplasia of the enamel, obliterated pulp chambers, hypercementosis and periodontal disease...
2017: PloS One
Ranjit Kumar Baruah, Russel Haque
Accordion Maneuver is a strong "Bloodless Tool" in the Ilizarov technology, that helps to bring about healing of nonunion of fractures of long bones. A 50 years old male, a rare case of Pycnodysostosis, presented to us with recalcitrant nonunion of the fracture shaft of the femur after two failed surgical attempts, with a broken plate in the last attempt. We treated this very difficult nonunion by Ilizarov monofocal osteosynthesis with Accordion Maneuver that finally yielded union. This appears to be the only case report of treating such a case with Accordion Maneuver...
October 2016: Journal of Clinical Orthopaedics and Trauma
Ceren Damla Durmaz, Vedat Taş, Pınar Kocaay, Ömer Suat Fitöz, Hüseyin Onay, Süha Beton, Ferda Özkınay, Hatice Ilgın Ruhi
No abstract text is available yet for this article.
May 2017: Congenital Anomalies
Ghasni Pasil R
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Hayat Aynaou, Imane Skiker, Hanane Latrech
INTRODUCTION: Pycnodysostosis is a rare genetic disease characterized by osteosclerosis and bone fragility. The clinical aspects are varied including short stature, acro-osteolysis of distal phalanges, and dysplasia of the clavicles. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, a beaked nose, obtuse mandibular angle, and both maxilla and mandible are hypoplastic. Dental abnormalities are common. We report a case with the typical clinical and radiological characteristics of the Pycnodysostosis associated with a conductive hearing loss, an association rarely reported...
April 2016: Journal of Orthopaedic Case Reports
Pilar Rovira Martí, Rosendo Ullot Font
PURPOSE: Pycnodysostosis is a rare autosomal recessive genetic disorder usually diagnosed at an early age. The few previously published case series have generally focused on maxillofacial manifestations and genetic considerations. The purpose of this study was to evaluate the clinical characteristics and differential diagnosis of pycnodysostosis focusing on its orthopaedic manifestations, which have been poorly described in the literature. METHODS: We evaluated clinical and radiographic characteristics of five patients with pycnodysostosis...
August 25, 2016: International Orthopaedics
Thaís Fenz Araujo, Erlane Marques Ribeiro, Anderson Pontes Arruda, Carolina Araujo Moreno, Paula Frassinetti Vasconcelos de Medeiros, Renata Moldenhauer Minillo, Débora Gusmão Melo, Chong Ae Kim, Maria Juliana Rodovalho Doriqui, Têmis Maria Felix, Rodrigo Ambrosio Fock, Denise Pontes Cavalcanti
BACKGROUND: Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis...
August 24, 2016: European Journal of Medical Research
Viviane Palmeira da Silva, Fernanda Visioli, Bruna Jalfim Maraschin, Juliana Andrade Cardoso, Gleicy Gabriela V S C Falcão, Márcio Campos de Oliveira, Jener Gonçalves de Farias
Pycnodysostosis is a rare genetic disease that is characterized by osteosclerosis, short stature, and bone fragility. There are not cases of gnathic bones lesions reported on the international literature. This study aims to describe a clinical case of a 10-year-old girl with pycnodysostosis syndrome and an uncommon association with 4 distinct lesions (dentigerous cyst, central giant cell lesions, and 2 fibro-osseous lesions).
October 2016: Journal of Craniofacial Surgery
Fen Liu, Zhi-Fei Zhou, Ying An, Yang Yu, Rui-Xin Wu, Yuan Yin, Yang Xue, Fa-Ming Chen
Recent studies have shown that patients with pycnodysostosis caused by cathepsin K (CTSK) genetic mutations exhibit significantly abnormal periodontal hard tissue structure. This finding suggests that CTSK may play a role in regulating the development of alveolar bone and cementum. However, the source of CTSK in the periodontal environment and the role of CTSK in periodontal regeneration, particularly hard tissue regeneration and development, remain unclear. After the isolation, cultivation, identification, and multi-lineage induction of human periodontal ligament stem cells (hPDLSCs), the present study used light and scanning electron microscopy, reverse-transcription quantitative polymerase chain reaction, western blotting, micro-computed tomography, immunohistochemical assays and ectopic hard tissue formation experiments to examine CTSK expression in hPDLSCs...
July 12, 2016: Journal of Tissue Engineering and Regenerative Medicine
Paula I Rojas, Nathia E Niklitschek, Matías F Sepúlveda
Fractures are an important entity to consider in pediatric patients. There are certain diseases in which bones fracture with a minimal trauma. Pycnodysostosis is an autosomal recessive unusual type of cráneo metaphyseal dysplasia, that presents frequently as fracture in a pathological bone. A 9 year old caucasian female, diagnosed with pycnodysostosis, was admitted with a right femur fracture as a result of a low energy trauma. Radiographic studies showed bilateral femur fractures, proximal fracture and non-union in antecurvatum of the left tibia...
June 1, 2016: Archivos Argentinos de Pediatría
Kausik Mandal, Sayantan Ray, Deepti Saxena, Priyanka Srivastava, Amita Moirangthem, Prajnya Ranganath, Neerja Gupta, Satinath Mukhopadhyay, Madhulika Kabra, Shubha R Phadke
No abstract text is available yet for this article.
July 2016: Clinical Dysmorphology
Dieter Brömme, Preety Panwar, Serap Turan
INTRODUCTION: The osteoporosis market reached a value of more than $11 billion in 2015. Current treatments remain mostly antiresorptive and comprise of bisphosphonates, the anti-RANKL antibody, denusomab, and selective estrogen receptor modulators (SERMs). The most promising novel antiresorptives are cathepsin K inhibitors, which selectively target the bone matrix, degrading protease without interfering with osteoclast viability or formation as all other antiresorptives do. AREAS COVERED: This review analyses the current status of cathepsin K inhibitor development, its side effects, and compares the phenotypes of mouse and human cathepsin K deficiencies with drug treatment outcomes...
2016: Expert Opinion on Drug Discovery
Natasha M Appelman-Dijkstra, Socrates E Papapoulos
During the past 15 years there has been an expansion of our knowledge of the cellular and molecular mechanisms regulating bone remodeling that identified new signaling pathways fundamental for bone renewal as well as previously unknown interactions between bone cells. Central for these developments have been studies of rare bone disorders. These findings, in turn, have led to new treatment paradigms for osteoporosis some of which are at late stages of clinical development. In this article, we review three rare skeletal disorders with case descriptions, pycnodysostosis and the craniotubular hyperostoses sclerosteosis and van Buchem disease that led to the development of cathepsin K and sclerostin inhibitors, respectively, for the treatment of osteoporosis...
June 2016: Endocrine
L Manfredi, S Marlin, B Fauroux, N Garabedian, V Couloigner, N Leboulanger
OBJECTIVES: Pycnodysostosis is a rare genetic disorder caused by a mutation of the cathepsin K gene involved in bone turnover. It is responsible, in particular, for a combination of dwarfism and bone fragility. Upper airway obstruction may be observed, but associated stridor has never been previously described. MATERIALS AND METHODS: Single-centre retrospective study over a period of 15 years with review of the literature. RESULTS: Three children (aged 2-18 months) were managed for stridor and obstructive sleep apnoea syndrome confirmed by polysomnography...
April 2016: European Annals of Otorhinolaryngology, Head and Neck Diseases
A R Rajan, Vikram Singh, Anupama A Bhave, C S Joshi
No abstract text is available yet for this article.
October 2015: Medical Journal, Armed Forces India
Aisha Khoja, Mubassar Fida, Attiya Shaikh
Pycnodysostosis is an autosomal recessive disorder that manifests as osteosclerosis of the skeleton due to the defective osteoclasts mediated bone turnover. The diagnosis of this disorder is established on the basis of its characteristic features and must be differentially diagnosed with other bone disorders. Dental surgeons should be aware of the limitations and possible adverse oral complications such as osteomyelitis of bone in these patients. This will guide them in planning realistic treatment goals. This paper reports the clinical and radiographic features of pycnodysostosis with the great emphasis on its dentofacial characteristics...
2015: Case Reports in Dentistry
X Wen, L-z Yi, F Liu, J-h Wei, Y Xue
Cathepsin K (CTSK) was thought to be a collagenase, specifically expressed by osteoclasts, and played an important role in bone resorption. However, more and more research found that CTSK was expressed in more extensive cells, tissues, and organs. It may not only participate in regulating human physiological activity, but also be closely related to a variety of disease. In this review, we highlight the relationship between CTSK and oral and maxillofacial disorders on the following three aspects: oral and maxillofacial abnormities in patients with pycnodysostosis caused by CTSK mutations, oral and maxillofacial abnormities in Ctsk(-/-) mice, and the role of CTSK in oral and maxillofacial diseases, including periodontitis, peri-implantitis, tooth movement, oral and maxillofacial tumor, root resorption, and periapical disease...
March 2016: Oral Diseases
Takahito Yuasa, Koichi Maeda, Kazuo Kaneko, Kazunori Yoshikata
The authors describe the case of a 51-year-old woman with an osteonecrosis of her right femoral head after treatment of an atypical subtrochanteric fracture caused by pycnodysostosis. She had this fracture after a low-trauma fall. She was of short stature with typical facial features, short stubby hands, and radiological features including open cranial sutures, obtuse mandible, and generalized skeletal sclerosis. The majority of cases of atypical subtrochanteric fractures are associated with long-term use of bisphosphonates; some occur in bisphosphonate-free patients...
2015: Case Reports in Orthopedics
Saurabh Kamat, Kannan Sankar, Natt Janakiraman Eswari, Vikas Gahlawat, Bernard Nithin Joseph Jude, Anjna Negi
Pycnodysostosis is a rare sclerosing bone disorder characterized by short stature, brachycephaly, short/stubby fingers, open cranial sutures/fontanelle, and diffuse osteosclerosis, where multiple fractures of long bones and osteomyelitis of the jaw are common complications. We present a rare case of pycnodysostosis with chronic suppurative osteomyelitis of the mandible in a 36-year-old woman; which was nonsurgically managed by a conservative approach involving a novel protocol referred to as intra-lesional antibiotic therapy...
July 2015: Journal of Natural Science, Biology, and Medicine
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