Calvarial Doughnut Lesions with Osteoporosis, Multiple Fractures, Dentinogenesis Imperfecta and Tumorous Changes in the Jaws. (Report of a Case)

Colavita, N; Kozlowski, K.; Vecchia, Giulia La; Fileni, Adriano; Ricci, R.

doi:10.1111/j.1440-1673.1984.tb02511.x

Cited by 20 publications

(15 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Because of the many fractures and slightly increased urinary hydroxyproline excretion, this syndrome had been regarded as a special type of OI [Colavita et al, 1984]. Normal collagens produced by the propositus's ®broblasts in our study and histologic evidence of increased osteoid tissue noted by Nishimura et al [1996] (see later discussion), however, suggest a cause different from that in OI.…”

Section: Discussioncontrasting

confidence: 68%

“…The spectrum of clinical symptoms ranges widely, from a severe clinical course, as in the case reported by Colavita et al [1984] and our propositus, to a mild condition with few fractures and late onset of CDL formation (Table I). CDL is inherited as an autosomal dominant trait.…”

Section: Discussionmentioning

confidence: 67%

“…The elevated ALP level returns to normal at about age 20. In a severe case of CDL, serial radiographs over a period of 21 years showed osteoporosis at age 1 and CDLs at age 7 [Colavita et al, 1984]. Several fractures had occurred before CDLs were recognized on clinical examination as hard, nontender lumps.…”

Section: Discussionmentioning

confidence: 94%

“…Normal collagens produced by the propositus's ®broblasts in our study and histologic evidence of increased osteoid tissue noted by Nishimura et al [1996] (see later discussion), however, suggest a cause different from that in OI. Measurements of a few lysosomal enzyme activities (b-glucosidase, b-galactosidase, b-mannosidase, b-acetylgalactosaminidase, arylsulfatase A) in puri®ed lymphocytes were normal [Colavita et al, 1984] and thus gave no clue to the origin of CDLs.…”

Section: Discussionmentioning

confidence: 98%

See 3 more Smart Citations

Calvarial “doughnut lesions”: Clinical spectrum of the syndrome, report on a case, and review of the literature

et al. 2001

View full text Add to dashboard Cite

Many pathologic fractures, lumps on the head, elevated serum alkaline phosphatase (ALP) levels, and dental caries are the main characteristics of the rare autosomal dominantly inherited calvarial "doughnut lesions" (MIM 126550). We report the sporadic case of a 16-year-old patient who has had 10 pathologic fractures between age 6 weeks and 15 years. An elevated serum ALP level was found at age 11 and skull lumps at age 15; radiography showed frontal and parietal round radiolucencies surrounded by sclerotic bone comparable to doughnuts. Magnetic resonance imaging (MRI) showed skull lesions at an early stage. Because the findings are reminiscent of osteogenesis imperfecta (OI), collagen types I, III, and V were analyzed in fibroblasts and shown to be normal in terms of quantities, proportions, electrophoretic mobility, and thermostability. Thus, this rare syndrome can be distinguished from OI by collagen analysis and MRI of the skull at an early stage, even before palpable skull lesions appear.

show abstract

Section: Discussioncontrasting

confidence: 68%

Section: Discussionmentioning

confidence: 67%

Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 98%

See 2 more Smart Citations

Calvarial “doughnut lesions”: Clinical spectrum of the syndrome, report on a case, and review of the literature

et al. 2001

View full text Add to dashboard Cite

show abstract

“…Solo existe un reporte de quistes en ambos maxilares en un paciente no sindrómico (15). El resto de los casos de los que se ha informado tienen un compromiso sistémico (16).…”

unclassified

Quistes dentígeros múltiples en los maxilares, presentación de un caso

Reyes

Dulanto

Aguilar³

et al. 2014

Rev Estomatol Herediana.

View full text Add to dashboard Cite

IntroducciónLa naturaleza de las lesiones de los maxilares es muy variada y estas tienen características radiográficas que las hacen aparecer como imágenes radiolúcidas, mixtas y/o radiopacas. Estas imágenes pueden estar asociadas a manifestaciones clínicas como dolor, aumento de volumen y alteraciones en la sensibilidad, entre otras características.Las lesiones de los maxilares en muchas ocasiones son originadas de las mismas estructuras embriológicas que forman los dientes, y por lo mismo pueden estar relacionadas con órganos dentarios en las distintas etapas de su desarrollo.El quiste dentígero es considerado un quiste odontogénico del desarrollo (1), aunque se ha reportado también como de origen inflamatorio (2). Representa entre el 16,6% y 20% de los quistes de los maxilares (3,4). En la población mexicana puede alcanzar hasta el 35% de los casos diagnosticados en servicios de patología bucal, con una Quistes dentígeros múltiples en los maxilares, presentación de un caso Licéaga R, Arrascue M, Trejo M, Mosqueda A, Reyes A. Quistes dentigeros múltiples en los maxilares, presentación de un caso. Rev Estomatol Herediana 2005;15(1): 73 -76 RESUMEN Presentamos un caso de un paciente de ocho años de edad con quistes dentigeros múltiples en los maxilares. Se discuten los posibles diagnósticos diferenciales y el tratamiento.Palabras clave: QUISTE DENTÍGERO / ARCADA OSEODENTARIA MAXILAR Multiple dentigerous cysts in jaws. Case study.ABSTRACT A case of an eight year-old child with multiple dentigerous cysts in jaw is presented. We discuss the possible differential diagnosis and its treatment.Keywords: DENTIGEROUS CYST / JAW ligera predilección por el sexo masculino (5,6). Su incidencia esta en relación con la de los dientes permanentes retenidos, por lo que se asocia mas común-mente a terceros molares inferiores, caninos superiores, premolares inferiores e incisivos superiores.Clínicamente se caracteriza por provocar expansión en los maxilares, ser asintomático y ausencia clínica de uno o más dientes (7). Radiográficamente se describe típicamente como una zona radiolucida bien definida en relación con la corona de un diente retenido (8).El comportamiento biológico del quiste dentígero es benigno, aunque se han informado casos aislados de transformación maligna de su epitelio (9).Existen muy pocos reportes de quistes dentigeros múltiples (10-12), y generalmente se presentan solo en la mandíbula y no en ambos maxilares (13,14). Solo existe un reporte de quistes en ambos maxilares en un paciente no sindrómico (15). El resto de los casos de los que se ha informado tienen un compromiso sistémico (16).Presentamos el caso de un paciente con dos lesiones radiolúcidas independientes, una en maxilar y una en mandí-bula, las cuales correspondieron histológicamente a quistes dentigeros. Presentación del casoPaciente masculino de 8 años de edad, que fue remitido al servicio de Cirugía Maxilofacial del Hospital Juárez de México por presentar aumento de volumen en el lado derecho del maxilar y el lado izquierdo de la mandíbula.El i...

show abstract

Calvarial doughnut lesions and osteoporosis: A new three‐generation family and review

Jaakkola

Lainé

Mäyränpää

et al. 2009

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Familial calvarial doughnut lesions (CDLs; OMIM 126550) is a rare autosomal dominant low bone density disorder characterized by distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. Only three families comprising 22 cases and 29 sporadic cases with the disorder have been reported. We describe a three-generation family consisting of three cases with clinical, radiological, biochemical, and histological findings consistent with this condition. All affected family members presented with childhood onset primary osteoporosis and typical CDLs or hyperostosis of the skull. In addition, the youngest family member was diagnosed with congenital glaucoma and her paternal grandmother with chronic congestive glaucoma. Glaucoma has not been previously described in this disorder. Adult patients also had recurrent cranial nerve palsies. No pathogenic mutations in the genes encoding low density lipoprotein receptor-related protein 5 (LRP5) or type I collagen (COL1A1 or COL1A2) were identified, suggesting that the disorder is caused by another dominant, yet unidentified gene. The literature is reviewed.

show abstract

Calvarial Doughnut Lesions with Osteoporosis, Multiple Fractures, Dentinogenesis Imperfecta and Tumorous Changes in the Jaws. (Report of a Case)

Cited by 20 publications

References 2 publications

Calvarial “doughnut lesions”: Clinical spectrum of the syndrome, report on a case, and review of the literature

Calvarial “doughnut lesions”: Clinical spectrum of the syndrome, report on a case, and review of the literature

Quistes dentígeros múltiples en los maxilares, presentación de un caso

Calvarial doughnut lesions and osteoporosis: A new three‐generation family and review

Contact Info

Product

Resources

About