Pyknodysostosis — a report of two cases with a brief review of the literature

doi:10.1016/S0901-5027(00)80076-4

International Journal of Oral and Maxillofacial Surgery

Volume 29, Issue 6, December 2000, Pages 439-442

https://doi.org/10.1016/S0901-5027(00)80076-4 Get rights and content

Abstract

Pyknodysostosis is a rare sclerosing bone disorder that has an autosomal dominant trait. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis, where multiple fractures of long bones and osteomyelitis of the jaw are frequent complications. We present a report of two cases of pyknodysostosis with evidence of long bone fractures and chronic suppurative osteomyelitis of the jaws in one of the cases. Some of the specific oral and radiological findings that are consistent with pyknodysostosis are reported, along with a brief review of the literature.

References (13)

ElmoreSM et al.
Pyknodysostosis, with a familial chromosome anomaly
Am J Med
(1966)
IllankovanV et al.
Pyknodysostosis: case report with surgical correction of the facial deformity
Br J Oral Maxillofac Surg
(1990)
MutoT et al.
Pyknodysostosis. Report of a case and review of Japanese literature, with emphasis on oral and maxillofacial findings
Oral Surg Oral Med Oral Pathol
(1991)
BeightonP et al.
A review of osteopetroses
Postgrad Med J
(1977)
ElmoreSM
Pyknodysostosis: a review
J Bone Joint Surg
(1967)
Emami-AhariZ et al.
Pycnodisostosis
J Bone Joint Surg
(1969)

There are more references available in the full text version of this article.

Cited by (42)

Pycnodysostosis: a case report and literature review concerning oral and maxillofacial complications and their management
2021, Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
There is a lack of knowledge regarding pycnodysostosis (PYCD), which is commonly misdiagnosed as other, similar malformations. This study aims to report a patient with PYCD and conjointly present a comprehensive literature review regarding oral complications after oral surgery procedures.
This study aims to report a noteworthy case of a 40-year-old woman with PYCD who suffered from a midface defect after iatrogenic fracture during extraction of the upper right molars. A comprehensive electronic search was carried out in January 2020 for detection and analysis of the most commonly encountered dentoalveolar PYCD-related complications. The study was granted an exemption from the local institutional review board.
The electronic search yielded 35 articles reporting 41 PYCD cases with 62 various reported dentoalveolar complications. The survey reported a prevalence of osteomyelitis (n = 39) followed by pathologic fracture (n = 17), iatrogenic fracture (n = 5), and oronasal communication (n = 1).
This study advocates handling patients with PYCD with care through the use of extensive clinical and radiographic examinations, giving priority to any conservative treatment modalities, atraumatic surgical procedures, prophylactic antibiotic prescriptions, and a regular follow-up schedule to tackle any anticipated complications.
Osteomyelitis of the jaws in patients with pycnodysostosis: a systematic review
2021, Brazilian Journal of Otorhinolaryngology
Citation Excerpt :
Increased susceptibility to osteomyelitis of the mandible is attributed to the increased bone density (osteosclerosis) favors the establishment of osteomyelitis, which has fewer medullary spaces and a single neurovascular bundle.17 Our results were consistent with the literature, with the mandible being the most affected site (n = 22).2,5,6,11–15,17–23,27–30 In the maxillary bones, osteomyelitis is commonly caused by the dissemination of an odontogenic infection (n = 7)5,11,12,16,17,29 or by surgical traumas (n = 16)2,5,6,13–15,18–23,27,28,30 Since the oral cavity harbors commensal microorganisms, diseases and manipulation of the teeth can create a route for microorganisms to enter the bone.8,31
Pycnodysostosis is a rare autosomal recessive syndrome that provides the abnormal bone metabolism that increases the susceptibility of patients to develop osteomyelitis.
This systematic review was conducted to analyze the risk factors associated with the development of complications in the jaws (fractures and osteomyelitis), as well as their clinical-pathological characteristics and therapeutic approaches in patients with pycnodysostosis.
Searches were performed in the PubMed, Web of Science, Scopus, Lilacs, and Cochrane databases. Case reports or case series that met the eligibility criteria according to the PRISMA statement were included. The full texts of 31 articles were retrieved. Twenty of these articles published between 1969 and 2018 were selected, which described 26 cases of osteomyelitis in patients with pycnodysostosis.
The mean age of the patients was 37.84 years; the male-to-female was 1.36:1. The mandible was the most affected site (76.9%). Tooth extraction was the main risk factor for osteomyelitis (61.5%), followed by infection (26.8%) and mandibular fracture (23.0%). Antibiotic therapy alone or combined with some surgical procedure was the treatment used in most cases (80.7%).
The findings of this review showed that patients with pycnodysostosis are more likely to develop osteomyelitis of the jaws after surgical procedures, especially tooth extraction which remains the main risk factor for its establishment. In addition, prophylactic antibiotic-therapy in the pre- and postoperative periods may prevent the development of osteomyelitis in pycnodysostosis.
Bilateral optic disc edema in a case of pycnodysostosis
2020, Journal Francais d'Ophtalmologie
An Update on Osteomyelitis Treatment in a Pycnodysostosis Patient
2018, Journal of Oral and Maxillofacial Surgery
Citation Excerpt :
A maxillofacial surgeon deals with the treatment of osteomyelitis in patients with PYCD, which is a challenging task. In cases of osteomyelitis and mandible fracture, conservative treatment, such as antibiotic therapy, removal of bone sequestrum, and hyperbaric oxygen therapy, has been reported.9,10,12-14,22-33 Currently, an important concern is that no consensus has been established regarding radical surgery and the use of a reconstruction plate in these patients.14,29
The aims of the present study were to discuss the demographic distribution and clinical characteristics of patients with pycnodysostosis (PYCD) and the onset of osteomyelitis and its treatment using a literature review. The authors also report on an update of treatment of mandibular osteomyelitis in a patient with PYCD using a buccal fat pad (BFP) as a free graft.
The study was carried out in 2 steps. In the first step, an electronic search was undertaken in PubMed in March 2018, with 17 articles being included. In the second step, the authors present a case of mandibular osteomyelitis in a 30-year-old woman with PYCD treated by sequestrectomy and a BFP as a free graft (follow-up, 24 months).
Twenty-one cases of osteomyelitis of the jaws in patients with PYCD were included. Dental extraction, mandibular fracture, and 1 case of facial trauma represented the causes of mandibular osteomyelitis. Treatments included resection associated with antibiotics and sequestrectomy alone or associated with antibiotics.
Despite the good results of the present case, further studies using the BFP as an adjuvant for jaw osteomyelitis are necessary to elucidate its clinical efficiency and safety.
Diagnostic Imaging: Musculoskeletal: Non-Traumatic Disease
2016, Diagnostic Imaging: Musculoskeletal Non-Traumatic Disease
Unraveling the Puzzle: Pycnodysostosis with Osteomyelitis A Rare Case Report of a Genetic Bone Disorder
2024, Journal of Indian Academy of Oral Medicine and Radiology

View all citing articles on Scopus

View full text

Pyknodysostosis — a report of two cases with a brief review of the literature

Abstract

Am J Med

Br J Oral Maxillofac Surg

Oral Surg Oral Med Oral Pathol

A review of osteopetroses

Postgrad Med J

Pyknodysostosis: a review

J Bone Joint Surg

Pycnodisostosis

J Bone Joint Surg