Ocular Tumoral Calcinosis

Ghanchi, Faruque; Ramsay, Andrew; Coupland, Sarah E.; Barr, Dai; Lee, William R.

doi:10.1001/archopht.1996.01100130337022

Cited by 28 publications

(5 citation statements)

References 17 publications

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“…The systemic involvement started at 8 years of age and visual symptoms at 20.5 years of age, which is the usual age of ocular involvement. [ 7 ] Except for scleral calcification, all other findings found in the present case like limbal calcific deposits,[ 7 ] angiod streaks,[ 7 8 ] and subretinal neovascular membrane,[ 7 ] have been reported in literature. Angiod streak in the retina may be related to GALNT3 or FGF23 gene mutation.…”

Section: Discussionmentioning

confidence: 53%

Ocular involvement in tumoral calcinosis

Bhattacharjee

Yambem

2014

Indian J Ophthalmol

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We report a 32-year-old male who presented with blurring of vision in the right eye since 1.5 years. He had history of swelling over the extensor surfaces of large joints which were migratory in nature. Few of them spontaneously subsided following suppuration of chalky white discharges except over the gluteal region. Ophthalmological examination revealed visual acuity of counting fingers (CF) at 1 m in the right eye and perilimbal conjunctival calcific deposits and retinal angiod streaks in both eyes. There was choroidal neovascular membrane with subretinal hemorrhage in right eye, confirmed by fundus fluorescein angiography (FFA) and optical coherence tomography (OCT). B scan ultrasonography and simultaneous vector A scan detected calcification of the subretinal neovascular membrane and the adjoining sclera.

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Section: Discussionmentioning

confidence: 53%

Ocular involvement in tumoral calcinosis

Bhattacharjee

Yambem

2014

Indian J Ophthalmol

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“…In some affected individuals, extracutaneous signs may predominate. Dental manifestations, including pulp calcifications and obliteration of the pulp cavity, may be prominent (Burkes et al ., 1991; Campagnoli et al ., 2006; Specktor et al ., 2006); testicular microlithiasis has been reported as part of the disease (Campagnoli et al ., 2006); angioid streaks and corneal calcifications have been observed as well (Ghanchi et al ., 1996); and bone manifestations (diaphysitis and hyperostosis) may be more common than initially thought (Clarke et al ., 1984; Mallette and Mechanick, 1987; Ballina-Garcia et al ., 1996). HFTC has been reported in association with pseudoxanthoma elasticum (Mallette and Mechanick, 1987).…”

Section: Ftc: Epidemiological Clinical and Biochemical Featuresmentioning

confidence: 88%

Familial Tumoral Calcinosis: From Characterization of a Rare Phenotype to the Pathogenesis of Ectopic Calcification

Sprecher

2010

Journal of Investigative Dermatology

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Familial tumoral calcinosis (FTC) refers to a heterogeneous group of inherited disorders characterized by the occurrence of cutaneous and subcutaneous calcified masses. Two major forms of the disease are now recognized. Hyperphosphatemic FTC has been shown to result from mutations in three genes: fibroblast growth factor-23 (FGF23), coding for a potent phosphaturic protein, KL encoding Klotho, which serves as a co-receptor for FGF23, and GALNT3, which encodes a glycosyltransferase responsible for FGF23 O-glycosylation; defective function of any one of these three proteins results in hyperphosphatemia and ectopic calcification. The second form of the disease is characterized by absence of metabolic abnormalities, and is, therefore, termed normophosphatemic FTC. This variant was found to be associated with absence of functional SAMD9, a putative tumor suppressor and anti-inflammatory protein. The data gathered through the study of these rare disorders have recently led to the discovery of novel aspects of the pathogenesis of common disorders in humans, underscoring the potential concealed within the study of rare diseases.

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“…Iatrogenic variant occurs following intravenous calcium or para-aminosalicylic acid administration, whereas calciphylaxis refers to cutaneous small vessel affection and subsequent ischemia. Idiopathic calcinosis cutis includes tumoral calcinosis which predominantly involves the joints and ocular involvement is rare,[ 4 ] and subepidermal calcinosis involves mostly the head and neck region including the ocular adnexa. [ 3 5 ] Serum calcium and phosphorus levels are normal in dystrophic calcinosis and deranged in metastatic variants and calciphylaxis.…”

Section: Discussionmentioning

confidence: 99%

“…Histopathological examination demonstrates basophilic amorphous calcium deposits in the subepithelial stroma which can be confirmed by von Kossa stain. [ 1 3 4 ] The lining stratified squamous epithelium may occasionally show focal hyperplasia. Lymphoplasmacytic inflammatory infiltrates may or may not be present.…”

Section: Discussionmentioning

confidence: 99%

Lacrimal punctal and peripunctal involvement in calcinosis cutis

Bothra

Ali

Trakos

et al. 2018

Indian J Ophthalmol

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Calcinosis cutis is a rare metabolic disorder characterized by cutaneous and subcutaneous deposition of insoluble calcium salts. Ocular adnexal involvement is uncommon but mostly seen in males and in the upper eyelid. Solitary lesions are more common than multiple. The treatment of choice is excision biopsy. Histopathological examination provides a definitive diagnosis. Directed systemic investigations help to rule out underlying pathologies and aids further management. The present case reports the punctal and peripunctal involvement in a case of ocular adnexal calcinosis cutis.

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Ocular Tumoral Calcinosis

Cited by 28 publications

References 17 publications

Ocular involvement in tumoral calcinosis

Ocular involvement in tumoral calcinosis

Familial Tumoral Calcinosis: From Characterization of a Rare Phenotype to the Pathogenesis of Ectopic Calcification

Lacrimal punctal and peripunctal involvement in calcinosis cutis

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