Pycnodysostosis in an Adult: A Case Report and Review of the Literature

Gray, Mark H.; Su, Andres; Cruciata, Giuseppe; Som, Peter M.

doi:10.1177/0145561319825738

Cited by 6 publications

(5 citation statements)

References 7 publications

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“…Additionally, brachydactyly was present in 66.0% of cases, and acroosteolysis was noted in 58.1%. While previous studies 10 13 17 31 50 have identified sleep apnea among characteristics of PYCD, it was not commonly observed in this systematic review, appearing in only 13.5% of the reported cases.…”

Section: Discussioncontrasting

confidence: 79%

“…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%

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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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Section: Discussioncontrasting

confidence: 79%

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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“…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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“… 12 , 13 Cantu et al 12 reported that craniofacial growth with GH therapy is maximal in the first 2 years of life, indicating that earlier treatment is beneficial. Some complications of patients with pycnodysostosis, such as sleep apnea, are believed to arise from the craniofacial defects, notably grooved palate and mid-lower facial hypoplasia, 14 which are typically GH-responsive.…”

Section: Discussionmentioning

confidence: 99%

Pycnodysostosis: A Growth Hormone Responsive Skeletal Dysplasia

Sulaiman

Thalange

2021

AACE Clinical Case Reports

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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Pycnodysostosis in an Adult: A Case Report and Review of the Literature

Cited by 6 publications

References 7 publications

Clinical and radiographic characteristics of pycnodysostosis: A systematic review

Clinical and radiographic characteristics of pycnodysostosis: A systematic review

Orthopedic Treatment of Pycnodysostosis: A Systematic Review

Pycnodysostosis: A Growth Hormone Responsive Skeletal Dysplasia

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