Mandibular osteoma in the encephalocraniocutaneous lipomatosis

Zielińska-Kaźmierska, Bogna; Grodecka, Joanna; Jabłońska-Polakowska, Lidia; Arkuszewski, Piotr

doi:10.1016/j.jcms.2005.02.006

Cited by 26 publications

(18 citation statements)

References 14 publications

(26 reference statements)

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“…In addition, 23 further patients are reviewed, all of whom meet Hunter’s criteria except one patient, who has been included because of his typical skin lesions 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53…”

Section: Methodsmentioning

confidence: 99%

Encephalocraniocutaneous lipomatosis

Moog

2009

Journal of Medical Genetics

118

249

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Section: Methodsmentioning

confidence: 99%

Encephalocraniocutaneous lipomatosis

Moog

2009

Journal of Medical Genetics

118

249

View full text Add to dashboard Cite

“…Although multiple benign tumors can be found in ECCL [Savage et al, 1985;MacLaren et al, 1995;Hauber et al, 2003;Andreadis et al, 2004;Zieli nska-Ka zmierska et al, 2005;Moog et al, 2007b;Moog, 2009], Patient 1 represents for the first time a histologically documented spheno-ethmoidal fibrous dysplasia [Toyosawa et al, 2007]. Both fibrous dysplasia and ECCL have in common a mosaic pathogenesis.…”

Section: Discussionmentioning

confidence: 98%

“…Central nervous system (CNS) anomalies include intracranial and spinal lipomas, congenital abnormalities of the meninges, asymmetric cerebral atrophy, dilated ventricles or hydrocephalus, porencephalic cysts, cortical dysplasia, parenchymal calcifications, and intracranial vessel anomalies. They are frequently confined to the same body side as the unilateral skin lesions [Fishman et al, 1978;Miyao et al, 1984;Happle and Steijlen, 1993;Hennekam, 1994;Legius et al, 1995;Ciatti et al, 1998;Parazzini et al, 1999;Romiti et al, 1999;Sant'Anna et al, 1999;Amor et al, 2000;Nowaczyk et al, 2000;Brown et al, 2003;Hauber et al, 2003;Lasierra et al, 2003;Donaire et al, 2005;Torrelo et al, 2005;Zieli nska-Ka zmierska et al, 2005;Sofiatti et al, 2006;L opez Sousa et al, 2007;Valladares et al, 2007;Moog et al, 2007a;Koishi et al, 2008;Stieler et al, 2008].…”

Section: Introductionmentioning

confidence: 99%

Encephalocraniocutaneous lipomatosis (ECCL): Neuroradiological findings in three patients and a new association with fibrous dysplasia

Delfino

Fariello

Quattrocchi

et al. 2011

American J of Med Genetics Pt A

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Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by involvement of tissues of ectodermal and mesodermal origin such as skin, eye, adipose tissue, and brain. Since 1970, when Haberland and Perou had described the first patient, 54 cases of ECCL have been reported in literature. We report on three new boys with ECCL. In addition to their typical dermal, ocular and central nervous system anomalies, one of them had a spheno-ethmoidal osseous lesion. Histopathological evaluation confirmed the benign nature of the lesion and was consistent with fibrous dysplasia. The aim of our study is to review clinical records and brain imaging studies of these three new patients with ECCL and compare these findings with those reported in literature to better define the phenotypic spectrum and radiological findings in ECCL.

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“…19 In 57% to 82% of patients affected by Gardner syndrome, a dominant autosomal disease also characterized by multiple skin and subcutaneous lesions and intestinal polyposis, osteomas are found, more often in multiple sites. 3,20 The published data report 79 cases of mandibular osteomas 7,16,17,21,22 and only 3 cases of iliac bone osteomas. [9][10][11] As far as we know, no cases of osteomas arising in an iliac bone graft used for mandibular reconstruction have been reported.…”

Section: Discussionmentioning

confidence: 99%