Pycnodysostosis: a case report and literature review concerning oral and maxillofacial complications and their management

El-Mahallawy, Yehia; Sweedan, Ahmed; Al‐Mahalawy, Haytham

doi:10.1016/j.oooo.2021.05.001

Cited by 7 publications

(6 citation statements)

References 49 publications

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“…In addition to the orthopedic presentation, it is important to note the facial features consistent with PYCD which can aid in the clinical diagnosis. PYCD consistently presents with specific facial features consistent with a large head due to a prominent bulging of the occiput, micrognathia with an obtuse mandibular angle, exophthalmos, and a narrow palate, along with various other facial features described in previous otolaryngological case reports [31][32][33].…”

Section: Discussionmentioning

confidence: 67%

Orthopedic Treatment of Pycnodysostosis: A Systematic Review

Taka¹,

Lung²,

Stepanyan³

et al. 2022

Cureus

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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.

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Section: Discussionmentioning

confidence: 67%

Orthopedic Treatment of Pycnodysostosis: A Systematic Review

Taka¹,

Lung²,

Stepanyan³

et al. 2022

Cureus

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“…Based on examination of the full texts of these papers, 84 studies 3 4 5 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 ...…”

Section: Resultsmentioning

confidence: 99%

Clinical and radiographic characteristics of pycnodysostosis: A systematic review

Gonzaga,

Costa,

Morais

et al. 2024

Imaging Sci Dent

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Purpose Pycnodysostosis (PYCD), an autosomal recessive syndrome, is characterized by an imbalance in bone remodeling that produces various clinical and radiographic craniofacial manifestations. This review represents a systematic examination of these manifestations, as well as oral features associated with PYCD. Materials and Methods A systematic review was conducted across 8 databases from February to March 2023. The search strategy focused on studies reporting cases of PYCD that examined the clinical and radiographic craniofacial and oral characteristics associated with this syndrome. Results The review included 84 studies, encompassing a total of 179 cases of PYCD. More than half of the patients were female (55.3%), and the mean age was 14.7 years. Parental consanguinity was reported in 51.4% of the cases. The most common craniofacial clinical manifestation was a prominent nose, observed in 57.5% of cases. Radiographically, the most frequently reported craniofacial characteristics included the presence of an obtuse mandibular angle (84.3%) and frontal cranial bosses (82.1%). Clinical and radiographic examinations revealed oral alterations, with micrognathia present in 62.6% of patients and malocclusion in 59.2%. Among dental anomalies, tooth agenesis was the most commonly reported, affecting 15.6% of patients. Conclusion Understanding the clinical and radiographic craniofacial features of PYCD is crucial for dental professionals. This knowledge enables these clinicians to devise effective treatment plans and improve patient quality of life.

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“…The oral manifestations in pycnodysostosis previously described include dental crowding, a grooved and high-arched palate, malocclusion of teeth with hypoplastic enamel, hypercementosis, and often retained deciduous teeth with impacted permanent teeth. One of the important complications facing patients with pycnodysostosis is osteomyelitis ( 4 ). The lesions observed in this proband were not in keeping with osteomyelitis.…”

Section: Discussionmentioning

confidence: 99%

Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis

Spencer,

Makka,

Singh

et al. 2023

Front. Oral. Health

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Pycnodysostosis is a skeletal dysplasia characterized by short stature, generalized osteosclerosis, acro-osteolysis, and recognizable facial features. Oral manifestations are commonly described and include a high-arched palate with dental crowding and malocclusion, hypoplastic enamel, and retained deciduous teeth with impacted permanent teeth, and there is an increased risk of developing osteomyelitis of the jaw. We report here the history of a 9-year-old male with the typical facial and skeletal phenotype of pycnodysostosis but novel oral features. He presented with bilateral progressive facial swelling, which caused functional impairment with chewing and contributed to his severe obstructive sleep apnea (OSA). The severity of his OSA required surgical intervention, and the lesions were resected. Extensive bone remodeling and replacement by fibrous tissue were noted on submucosal dissection, and bilateral subtotal maxillectomies were required. The histopathology of the biopsied lesion was consistent with a giant cell-rich lesion. Genetic testing identified a pathogenic homozygous variant in the CTSK gene, c.953G > A, p. (Cys318Tyr). The proband had a good postsurgical response with sustained improvement in his sleep OSA. We present here the history and clinical characteristics of a patient with typical features of pycnodysostosis and an unusual presentation and histopathology of gnathic bone lesions. This report adds to the body of literature on this rare condition and also highlights the finding of giant cell-rich lesions of the gnathic bones. Giant cell-rich lesions in pycnodysostosis have previously been reported in two cases in the literature. While there is not enough evidence to support a certain association with pycnodysostosis, it is prudent to consider regular oral dental reviews in affected individuals to identify pathology early and avoid such life-threatening complications.

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Pycnodysostosis: a case report and literature review concerning oral and maxillofacial complications and their management

Cited by 7 publications

References 49 publications

Orthopedic Treatment of Pycnodysostosis: A Systematic Review

Orthopedic Treatment of Pycnodysostosis: A Systematic Review

Clinical and radiographic characteristics of pycnodysostosis: A systematic review

Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis

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