Epidermal nevus syndrome associated with anterior scleral staphyloma and ectopic bone and cartilaginous intraocular tissue

Miyagawa, Yasuhiro; Nakazawa, Makoto; Kudoh, Takashi

doi:10.1007/s10384-009-0760-x

Cited by 4 publications

(2 citation statements)

References 5 publications

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“…There are a number of mechanisms by which bone and/or cartilage form within ocular structures; these include (i) congenital ectopic (choristomatous) bone/cartilage formation, (ii) osseous metaplasia as a pathologic response (e.g., post‐traumatic or intratumoral), (iii) an adaptive response to physiologic stressors within an individual's environment, or (iv) as a normal developmental finding within all or the vast majority of individuals within a species. Given the high prevalence of affected animals, and the lack of other ectopic tissues, it seems unlikely that our findings represented choristomatous cartilage or bone formation.…”

Section: Discussionmentioning

confidence: 99%

Gross, histologic, and computed tomographic characterization of nonpathological intrascleral cartilage and bone in the domestic goat (Capra aegagrus hircus)

Tusler

Good

Maggs

et al. 2016

Veterinary Ophthalmology

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Objective To characterize grossly, histologically, and via computed tomography (CT) the appearance of intrascleral cartilage, bone, or both in domestic goats with otherwise normal eyes and to correlate this with age, sex, and breed. Animals studied Sixty-eight domestic goats (89 eyes). Procedures Forty-nine formalin-fixed globes from 38 goats underwent high-resolution CT, and gross and light microscopic examination. An additional 40 eyes from 30 goats underwent light microscopy only. Age, breed, and sex of affected goats were retrieved from medical records.Results Considering all methods of evaluation collectively, cartilage was detected in 42% of eyes (44% of goats) and bone in 11% of eyes (12% of goats); bone was never seen without cartilage. Goats in which bone, cartilage, or both were detected ranged from 0.25 to 13 (median = 3.5) years of age, represented 11 of 12 breeds of the study population, and had a male:female ratio of 11:19. Bone was detected in the eyes of significantly more males (n = 8) than females (n = 2). No sex predilection was noted for cartilage alone. Histology revealed intrascleral chondrocyte-like cells, hyaline cartilage, and islands of lamellar bone. Some regions of bone had central, adipose-rich, marrowlike cavities. CT localized mineralized tissue as adjacent to or partially surrounding the optic nerve head. Conclusions This is the first report of intrascleral bone or cartilage in a normal goat and of intrascleral bone in an otherwise normal mammal. The high prevalence of intrascleral cartilage and bone in this study suggests that this finding is normal and likely represents an adaptation in goats.

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Section: Discussionmentioning

confidence: 99%

Gross, histologic, and computed tomographic characterization of nonpathological intrascleral cartilage and bone in the domestic goat (Capra aegagrus hircus)

Tusler

Good

Maggs

et al. 2016

Veterinary Ophthalmology

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show abstract

“…23 It is the best known ENS, and some authors still prefer to categorize it as ''the ENS.'' [24][25][26][27][28][29][30] The terminology of this birth defect is rather confusing and includes, in addition to Schimmelpenning syndrome, 5,21,31 many other names, such as Feurstein, FeuersteinFeurstein, Feuerstein Mims syndrome, [32][33][34] Schimmelpenning-Feuerstein-Mims syndrome, 35-37 Solomon syndrome, [38][39][40] ENS, 12,38,[41][42][43][44][45][46] Jadassohn nevus phacomatosis, [47][48][49] Jadassohn-Schimmelpenning-Feuerstein-Mims syndrome, 50 organoid nevus phacomatosis, 35,51 organoid nevus syndrome, 52,53 sebaceous nevus syndrome, [54][55][56][57][58] linear sebaceous nevus syndrome, 50,[59][60][61][62][63][64] and Jadassohn sebaceous nevus syndrome. 65 Consequently, Schimmelpenning syndrome temporarily had three different Online Mendelian Inheritance in Man numbers; these have resently been reduced to two entries (163200 and 601359).…”

Section: Schimmelpenning Syndromementioning

confidence: 99%