Non-ossifying fibromas and giant cell reparative granulomas in a child with ocular-ectodermal syndrome

Toriello, Helga V.; Bultman, Rebecca; Panek, Richard; Hammers, Yuki; Kohut, Gloria; Droste, Patrick J.; Freyer, David R.

doi:10.1097/00019605-199910000-00006

Cited by 18 publications

(19 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Schimmelpenning-Feuerstein-Mims syndrome (SFMS) includes epibulbar dermoids, eyelid defects (coloboma, lipodermoid), central giant cell granuloma, coarctation of the aorta, and sebaceous nevi in common with Toriello et al, 1993. b Previously described by Toriello et al, 1999. OES [Ernst et al, 2007]. Schimmelpenning-Feuerstein-Mims syndrome (SFMS) includes epibulbar dermoids, eyelid defects (coloboma, lipodermoid), central giant cell granuloma, coarctation of the aorta, and sebaceous nevi in common with Toriello et al, 1993. b Previously described by Toriello et al, 1999. OES [Ernst et al, 2007].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations

Peacock

Dykema

Toriello

et al. 2015

American J of Med Genetics Pt A

Self Cite

View full text Add to dashboard Cite

Oculoectodermal syndrome (OES) is a rare disease characterized by a combination of congenital scalp lesions and ocular dermoids, with additional manifestations including non-ossifying fibromas and giant cell granulomas of the jaw occurring during the first decade of life. To identify the genetic etiology of OES, we conducted whole-genome sequencing of several tissues in an affected individual. Comparison of DNA from a non-ossifying fibroma to blood-derived DNA allowed identification of a somatic missense alteration in KRAS NM_033360.3(KRAS):c.38G>A, resulting in p.Gly13Asp. This alteration was also observed in the patient's other affected tissues including the skin and muscle. Targeted sequencing in a second, unrelated OES patient identified an NM_033360.3(KRAS):c.57G>C, p.Leu19Phe alteration. Allelic frequencies fell below 40% in all tissues examined in both patients, suggesting that OES is a mosaic RAS-related disorder, or RASopathy. The characteristic findings in OES, including scalp lesions, ocular dermoids, and benign tumors, are found in other mosaic and germline RASopathies. This discovery also broadens our understanding of the spectrum of phenotypes resulting from KRAS alterations. Future research into disease progression with regard to malignancy risk and investigation of RAS-targeted therapies in OES is warranted. KRAS sequencing is clinically available and may also now improve OES diagnostic criteria.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Neither parent was affected ( Fig. At age 7, he suffered a pathologic fracture of the femur because of a polyostotic NOF; radiographs identified several other NOFs [Toriello et al, 1999]. At age 4, a jaw lesion was determined to be a mandibular giant cell granuloma.…”

Section: Introductionmentioning

confidence: 99%

Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations

Peacock

Dykema

Toriello

et al. 2015

American J of Med Genetics Pt A

Self Cite

View full text Add to dashboard Cite

show abstract

“…A number of conditions that can present with lesions that histologically are indistinguishable from the CGCL of bone were excluded, including brown tumors of hyperparathyroidism (or cases with altered levels of parathyroid hormone, calcium, and phosphorus), cherubism, and, less commonly, some inherited syndromes. These include Ramon syndrome, Schimmelpenning syndrome, Noonan syndrome, “Noonan‐like syndrome, cherubism, and polyarticular pigmented villonodular synovitis,” “ocular‐ectodermal syndrome,” neurofibromatosis type 1, Jaffe Campanacci syndrome, tumor‐induced osteomalacia/rickets, and patients with multiple lesions.…”

Section: Methodsmentioning

confidence: 99%

Central giant cell lesion of the jaws: An updated analysis of 2270 cases reported in the literature

Chrcanovic

Gomes

Gomez

2018

J Oral Pathology Medicine

View full text Add to dashboard Cite

show abstract

“…The differential diagnosis of OES also includes consideration of Jaffe-Campanucci syndrome because of the development of giant cell granulomas affecting the jaw and nonossifying fibromas in the long bones in a 9-yearold child with OES (Toriello et al, 1999). OES has been hypothesized to be a tumor predisposition syndrome because of the giant cell granulomas in this child and a bladder rhabdomyosarcoma in a male with OES (Lees et al, 2000).…”

Section: Discussionmentioning

confidence: 99%

Oculo-ectodermal syndrome: is arachnoid cyst a common finding?

Martín

Lockspieler

Slavotinek

2007

Clinical Dysmorphology

View full text Add to dashboard Cite

Oculo-ectodermal syndrome is a rare condition characterized by aplasia cutis and epibulbar dermoids. We present the case of a 6-year-old girl with oculo-ectodermal syndrome, who was found to have an arachnoid cyst by head computed tomography. This is the third case of oculo-ectodermal syndrome with arachnoid cyst reported in the literature, and suggests that arachnoid cyst may be a phenotypic feature of oculo-ectodermal syndrome.

show abstract

Non-ossifying fibromas and giant cell reparative granulomas in a child with ocular-ectodermal syndrome

Cited by 18 publications

References 0 publications

Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations

Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations

Central giant cell lesion of the jaws: An updated analysis of 2270 cases reported in the literature

Oculo-ectodermal syndrome: is arachnoid cyst a common finding?

Contact Info

Product

Resources

About