Letter to the Editor: ASSOCIATION OF CENTRAL GIANT-CELL GRANULOMA OF THE MAXILLA WITH PYKNODYSOSTOSIS

Thomas, Nihal; Seshadri, Madhav; Thomas, George P.; Chacko, Rabin; T, Samraj; Nair, Sheela; Ponnaiya, J; Cherian, Thomas

doi:10.1054/bjom.1998.0020

Cited by 5 publications

(3 citation statements)

References 3 publications

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“…In addition to the typical manifestations mentioned above, some unusual findings, including hearing loss [5], central giant-cell granuloma of the maxilla [82], congenital pseudarthrosis of the clavicle [7], spondylolysis [79], and bone marrow hypoplasia with compensatory splenomegaly [76], were reported in pycnodysostosis patients.…”

Section: Introductionmentioning

confidence: 99%

Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

Xue

Cai

Shi

et al. 2011

Orphanet J Rare Dis

105

121

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Cathepsin K (CTSK) is a member of the papain-like cysteine protease family. Mutations in the CTSK gene cause a rare autosomal recessive bone disorder called pycnodysostosis (OMIM 265800). In order to follow the advances in the research about CTSK and pycnodysostosis, we performed a literature retrospective study of 159 pycnodysostosis patients reported since 1996 and focused on the genetic characteristics of CTSK mutations and/or the clinical phenotypes of pycnodysostosis. Thirty three different CTSK mutations have been found in 59 unrelated pycnodysostosis families. Of the 59 families, 37.29% are from Europe and 30.51% are from Asia. A total of 69.70% of the mutations were identified in the mature domain of CTSK, 24.24% in the proregion, and 6.06% in the preregion. The hot mutation spots are found in exons 6 and 7. CTSK mutations result in total loss or inactivity of the CTSK protein, which causes abnormal degradation of bone matrix proteins such as type I collagen. Skeletal abnormalities, including short stature, an increase in bone density with pathologic fractures, and open fontanels and sutures, are the typical phenotypes of pycnodysostosis. Research on Ctsk-/- mouse models was also reviewed here to elucidate the biological function of Ctsk and the mechanism of pycnodysostosis. New evidence suggests that Ctsk plays an important role in the immune system and may serve as a valid therapeutic target in the future treatment of pycnodysostosis.

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Section: Introductionmentioning

confidence: 99%

Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

Xue

Cai

Shi

et al. 2011

Orphanet J Rare Dis

105

121

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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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“…En el presente caso clínico, se observa una lesión de aproximadamente 6 cm, coincidiendo con investigaciones que refieren tamaños que superan los 2 cm (6,17). Según su localización se presenta con mayor prevalencia en la mandíbula que en el maxilar (18) coincidiendo con el caso presentado.…”

Section: Resultados Y Discusiónunclassified

Consideraciones sobre el granuloma central de células gigantes

Pallares

Herrera

Caballero

2014

Cienc. Salud virtual

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El granuloma central de células gigantes (GCCG) es un proceso circunscrito, endofítico poco frecuente de la cavidad oral, también denominada épulis de células gigantes, osteoclastoma, granuloma reparativo de células gigantes, o hiperplasia de células gigantes, la mayor parte de las veces se desarrolla de manera asintomática y se detecta como un hallazgo radiográfico o por la expansión indolora del hueso afectado. En algunos casos se presenta con un comportamiento más agresivo, asociado a dolor, parestesia, perforación de corticales óseas e incluso ulceración de la mucosa. Siempre se debe realizar diagnóstico diferencial, enfocando sobre todo tres de ellos el tumor pardo del hiperparatiroidismo, el querubismo y el quiste óseo aneurismático. Se presenta caso clínico en paciente masculino de 14 años de edad, con diagnóstico de GCCG a nivel de molares inferiores derechos, el cual después de realizarse curetaje, presentó posterior recidiva de la lesión a los seis meses, por lo que se realiza hemimandibulectomía y colocación de placa de reconstrucción mandibular en titanio sistema Marx. Se plantea el caso con el propósito de evitar nueva recidiva de la lesión, logrando éxito con el tratamiento empleado, observando ausencia clínica y radiográfica de signos de recurrencia.

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Letter to the Editor: ASSOCIATION OF CENTRAL GIANT-CELL GRANULOMA OF THE MAXILLA WITH PYKNODYSOSTOSIS

Cited by 5 publications

References 3 publications

Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

Clinical and radiographic characteristics of pycnodysostosis: A systematic review

Consideraciones sobre el granuloma central de células gigantes

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