Reconstruction of a pathologic mandibular fracture in a patient with pycnodysostosis using a free osteocutaneous fibula flap: A case report (original) (raw)
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British Journal of Plastic Surgery, 2001
We present the first successful report of mandibular reconstruction using a free fibula osteocutaneous flap in a patient with pyknodysostosis. The patient had recurrent refractory osteomyelitis of the mandible, which was initially treated with resection and reconstruction using an AO plate. Recurrent fistula formation with loosening of the plate was treated by radical re-excision and reconstruction with a free fibula flap. The postoperative course was uneventful; at 14 months the bony union was almost complete, without resorption or atrophy of the grafted fibula on radiography. 9 2001 The British Association of Plastic Surgeons SUMMARY. This case report describes a curious cause of insomnia. A 93-year-old woman presented to our follow-up clinic with the complaint of insomnia secondary to an audible click emanating from her scull. The site of loud biphasicsound production corresponded to an area of the scalp where a squamous cell carcinoma had been removed 11 years previously. 9 2001 The British Association of Plastic Surgeons
Journal of Xiangya Medicine
Background: Pycnodysostosis (PYCD) is a rare genetic disorder causing skeletal dysplasia. It is inherited in an autosomal recessive manner, and it is caused by a gene mutation leading cathepsin K (CTSK) deficiency. PYCD is characterized among many by short-limbed short stature, typical facial appearance and osteosclerosis with increased bone fragility. The altered bone quality typical of this disease cause the bones to be fragile and brittle with the medullary canal present while often narrowed so as a result, these individuals have an increased fracture rate. Methods: A systematic review of the literature indexed in PubMed, MEDLINE, and Cochrane Library databases using as search terms "pycnodysostosis fracture" was performed in January 2022. To be considered for this review at least a section of the population understudy needed to be affected by PYCD, bone fracture and the treatment performed needed to be explicit. Literature focused on maxillofacial manifestations/ surgery were excluded. The methodological quality of the studies was assessed using the modified Coleman methodology score (mCMS). Results: Only 23 studies met the inclusion criteria and were included in the review. The reached population consisted of 36 patients for a total of 57 fractures secondary mainly to low energy trauma (91%). Fractures occurred mainly in long bones, 54% were femur and 26% were tibia. The 60%. Of fractures were treated surgically. Bony union was achieved at an average of 11 months after surgery/trauma. The most frequent complications reported were refracture (19%) and pseudoarthrosis (31%). Six femur "impending fracture" cases have also been reported. Conclusions: Treatments such as intramedullary nailing or internal plate fixation offer continuous support for the delayed bone healing and the high risk of refracture in PYCD which are the most common complications. Prolonged follow-up over time could help these patients with a rare disease to treat and sometimes prevent disease-related events. To date, therefore, there are no standardized guidelines on this matter.
Fracture Management in Pyknodysostosis - A Rare Case Report
Journal of orthopaedic case reports
Pyknodysostosis is congenital osteosclerotic skeletal dysplasia of a rare entity. It is an autosomal recessive disease which presents with short stature and generalized osteosclerosis of skeleton as result of decreased bone turnover. Here, the authors report a case of pyknodysostosis who presented to our emergency room with a pathological fracture in the shaft of the femur for which operative intervention was carried out. A 30-year-old female presented to our emergency room with a history of trivial injury to right thigh region and was diagnosed as fracture in her right femur shaft region. After a detailed clinical, radiological, and blood investigations, the patient was taken up for operative modality of intervention in the form of plate osteosynthesis. As the medullary canal was narrow and bone was osteosclerotic, the option of closed intramedullary interlocking nailing was ruled out. Hence, we proceeded with open reduction and internal fixation with plate osteosynthesis using a b...
An atypical subtrochanteric femoral fracture from pycnodysostosis: A lesson from nature
Journal of Bone and Mineral Research, 2011
This case describes a man with an unusual cause of an atypical subtrochanteric fracture, pycnodysostosis. This condition results from mutations involving the cathepsin K gene. New antiresorptive treatments for osteoporosis inhibit the cathepsin K enzyme in osteoclasts. Therefore, there should be vigilant monitoring for the development of long-term complications noted to occur in diseases of reduced osteoclast function, including pycnodysostosis, in patients receiving these novel antiresorptive agents.
Orthopedic Treatment of Pycnodysostosis: A Systematic Review
Cureus
Pycnodysostosis (PYCD) is an autosomal recessive lysosomal storage disorder of the bone which leads to stereotypical abnormalities consisting of, but not limited to, sclerotic and fragile bone, shortened distal phalanges, and obtuse mandibular angle. Current literature describes the otolaryngological manifestations and treatment of this disorder; however, the treatment of orthopedic fractures in PYCD patients is seldom described and remains a controversial topic. We aim to systematically review the current evidence regarding the optimal treatment of PYCD patients with fractures. We performed a literature search using PubMed, MEDLINE, Web of Science, and Google Scholar databases. Eligibility criteria consisted of English-language literature of PYCD patients undergoing treatment for orthopedic surgery fractures. Non-English papers or literature focused on maxillofacial manifestations/treatment were excluded. The database search resulted in the identification of 500 articles. After removing duplicates and enforcing our inclusion criteria, 29 case reports/series (40 patients) were included. The average age was 31.25 (±18.2) years, with 57.5% of patients being female. Overall, 62.5% of patients had consanguineous parents. Additionally, 86.2% reported a history of previous fractures while 47.5% reported a spontaneous or minor trauma fracture, with most fractures occurring in the femur (60.0%) and tibia (40.0%). Radiographic features consisted of densification in the femur 45.0% (18/40), tibia 37.5% (15/40), and spine 25.0% (10/40). Overall, 84.2% of patients were treated with surgical management consisting of internal plate fixation (IPF) (48.3%), intramedullary fixation (20.7%), and Ilizarov external fixation (IEF) (13.8%). Overall, the refracture rate was 25.0% and was lowest in intramedullary fixation (0/6), compared to IPF (3/14) and IEF (3/4). Average time until refracture was 40.6 months (3-132 months). Long-term follow-up is recommended in patients with PYCD due to the propensity for fractures/refractures. While this study provides the groundwork for the treatment of PYCD patients, further research with higherevidence studies should be conducted to establish the optimal orthopedic treatment of this disorder.
Reconsiderations regarding time of fracture healing in Pycnodysostosis
Revista Brasileira de …
1 Chefe do Serviço de Residência Médica do Hospital Ortopédico de Goiânia. 2 Consultor do Grupo de Oncologia Ortopédica do Hospital Ortopédico de Goiânia. 3 Chefe do Grupo de Oncologia Ortopédica do Hospital Ortopédico de Goiânia. 4 Fisioterapeuta Especialista ...
Journal of Orthopaedic Science, 2021
Pycnodysostosis is a rare skeletal dysplasia caused by a lysosomal storage disorder, which is, in turn, caused by a mutation in the cathepsin K enzyme gene. This study reports the case of a 16-year-old patient suffering from pycnodysostosis with dental/maxillofacial (ho trovato anche "dento-skeletal"), spine and appendicular skeleton dysmorphism. In order to correct the bilateral femoral deformities, we performed osteotomies and synthesis with intramedullary nails. We treated the right femur first; the patient later developed the following complications post-operatively: severe anaemia and a systemic Staphylococcus Hominis infection. The left femur was then subsequently treated with a revision of the intramedullary nail-priorly implanted for a diaphyseal fracture in the patient's country of origin-a corrective osteotomy and the positioning of a new nail. Post-operatively, the patient suffered a per-subtrochanteric compound fracture of the left femur. At the last radiographic follow-up 14 months post-operatively on the right femur and 5 months post-operatively on the left femur, there was complete consolidation of the osteotomy and satisfactory correction of the deformity with restoration of a correct loading axis of the right side and initial consolidation of the osteotomy and per-subtrochanteric fracture of the left side. The patient walks autonomously without pain and his quality of life has significantly improved.
Kırıkkale Üniversitesi Tıp Fakültesi Dergisi, 2017
Pycnodysostosis, known as osteopetrosis acro-osteolytica, is a rare sclerotic bone disease with an autosomal recessive heritage pattern. Characteristic features of the disease are short stature, delayed closure of cranial sutures, partial or total dysplasia of the phalanges, obtuse mandibular angle, skeletal abnormalities and increased bone density. Type I collagen catabolism and
Pycnodysostosis - A Rare Case Report
University Journal of Surgery and Surgical Specialities, 2016
Pycnodysostosis is a rare sclerosing skeletal dysplasia, first described in 1962 by Maroteaux and Lamy. It is a genetic disorder, usually diagnosed due to pathological bone fractures .Short stature , facial morphological characteristics, certain radiological features aids in the diagnosis. The head is usually large, the nose beaked, the mandibular angle obtuse, and both maxilla and mandible hypoplastic. Dental abnormalities and impaction are observed, as well as alterations in eruption and frequent dental crowding. The differential diagnosis includes osteopetrosis, cleidocranial dysplasia, Engelmans disease and idiopathic acro-osteolysis. We report a case of pycnodysostosis who presented as a pathological fracture femur and review its clinical and radiographic features with the literature. Keyword :Pycnodysostosis, pathological, acro-osteolysis
Two cases with pycnodysostosis in a family: a case report
International Journal of Contemporary Pediatrics
Pycnodysostosis (Greek, pycnos - density, dys - defect, ostosis - bone) is a rare inherited disorder of the bone, first described by Maroteaux and Lamy. Pycnodysostosis is an autosomal recessive disorder, with incidence estimated to be 1.7 per 1 million births. Clinical presentation of this disorder include short stature, dolichocephalic skull, frontal bossing, obtuse mandibular angle, dysplastic clavicles, and short hands and feet, diffuse osteosclerosis, acro-osteolysis along with the finger and nail abnormalities. The main oral aspects are midfacial hypoplasia, a grooved palate, and dental abnormalities include double row of teeth, delayed eruption of permanent dentition, multiple caries. Pathological fractures of the bones occur due to sclerosis. Radiologically, skull bones appear thickened with open fontanels which look like ‘lakes of bones’, hypoplasia of facial bones, generalized osteosclerosis, open fontanels and cranial sutures, non pneumotization of paranasal sinuses, and ...