Pycnodysostosis. Report of a case and review of the Japanese literature.

Muto, Toshitaka; Kitamura, Kanji; Michiya, Hiroyuki; Okumura, Katsuhiko; Matsuzaki, Hiroaki; Yachi, Kenji; Egami, Fuminori; Akiyama, Yukio; Kanazawa, Masanori; Murase, Hirofumi; Tomita, Kinai

doi:10.5794/jjoms.36.1083

Cited by 8 publications

(16 citation statements)

References 3 publications

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“…Pycnodysostosis is characterised by short stature, increased bone fragility, persistent open anterior fontanelle and acro-osteolysis of the terminal phalanges (Figure 2 ). The typical 'open mouth outline' facial appearance is due to frontal bossing, micrognatia, loss of the mandibular angle (Figure 3 ), and dental anomalies including persistence of deciduous teeth resulting a double row of teeth [ 19 , 20 ]. Other reported manifestations include joint hypermobility, obliteration of frontal and other sinuses [ 21 ], pituitary hypoplasia, cerebral demyelination [ 22 ], and hepatosplenomegaly [ 23 ].…”

Section: Clinical Descriptionsmentioning

confidence: 99%

Osteopetrosis

Stark

Savarirayan

2009

Orphanet J Rare Dis

434

518

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Abstract

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis). Classic ARO is characterised by fractures, short stature, compressive neuropathies, hypocalcaemia with attendant tetanic seizures, and life-threatening pancytopaenia. The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer osteopetrosis variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of ADO. Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as causative in humans, accounting for 70% of all cases. These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable, and paves the way to understanding natural history, specific treatment where available, counselling regarding recurrence risks, and prenatal diagnosis in severe forms. Treatment of osteopetrotic conditions is largely symptomatic, although haematopoietic stem cell transplantation is employed for the most severe forms associated with bone marrow failure and currently offers the best chance of longer-term survival in this group. The severe infantile forms of osteopetrosis are associated with diminished life expectancy, with most untreated children dying in the first decade as a complication of bone marrow suppression. Life expectancy in the adult onset forms is normal. It is anticipated that further understanding of the molecular pathogenesis of these conditions will reveal new targets for pharmacotherapy.

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Section: Clinical Descriptionsmentioning

confidence: 99%

Osteopetrosis

Stark

Savarirayan

2009

Orphanet J Rare Dis

434

518

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Abstract

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“…9,10,20 In the present case, no fracture was observed in the possible donation areas, such as the tibia and fibula. 9,10,20 In the present case, no fracture was observed in the possible donation areas, such as the tibia and fibula.…”

Section: Discussionmentioning

confidence: 38%

Mandibular Osteomyelitis and Fracture in a Patient With Pyknodysostosis

Frota¹,

Linard²,

Silva³

et al. 2010

Journal of Craniofacial Surgery

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Pyknodysostosis is a rare, recessive, hereditary, autosomal disease belonging to the group of bone dysplasias. Complications such as osteomyelitis and fractures of the mandible are not uncommon and appear in the most varied forms. We report a case of chronic osteomyelitis with subsequent mandible fracture, which was successfully treated with the use of a reconstruction plate and antibiotic therapy. This article outlines the clinical and radiographic characteristics of this condition based on the clinical case described and proposes an approach regarding the best form of treatment. Considering the risks of fracture subsequent to removal of the graft from long bones as well as the presence of chronic infection, difficult-to-defeat infection, and bone contact on the compression band, the best choice is a more conservative treatment.

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“…Therefore, the extractions of the required teeth for orthodontic alignment in the abovementioned case report should not be delayed. In Japanese literature, out of fifty-four case reports by Muto et al [ 21 ], nine cases developed osteomyelitis with an age of twenty years or more. In addition, dental surgeons should also be aware of the possibility of causing mandibular fracture following tooth extraction due to the increased bone density [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

Pycnodysostosis with Special Emphasis on Dentofacial Characteristics

Khoja

Fida

Shaikh

2015

Case Reports in Dentistry

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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. The aim of this case report is to give an insight into the etiology, pathogenesis, and differential diagnosis of this disorder and to prepare the dentists and maxillofacial surgeons to overcome the challenges in treating these patients.

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Pycnodysostosis. Report of a case and review of the Japanese literature.

Cited by 8 publications

References 3 publications

Osteopetrosis

Osteopetrosis

Mandibular Osteomyelitis and Fracture in a Patient With Pyknodysostosis

Pycnodysostosis with Special Emphasis on Dentofacial Characteristics

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