Complex limbal choristoma in linear nevus sebaceous syndrome managed with scleral grafting

Trivedi, Nitin; Nehete, Girish

doi:10.4103/0301-4738.99849

Cited by 8 publications

(4 citation statements)

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“…Approximately 7% of nevus sebaceous cases exhibit extracutaneous manifestations, most commonly in the central nervous system [ 20 , 21 ]. LNSS is also often complicated with ocular abnormalities, including colobomas and choristomas [ 3 ] and occasionally strabismus and esotropia [ 22 , 23 ]. The lacrimal passage and puncta develop at 6–7 weeks during embryogenesis [ 24 , 25 ].…”

Section: Discussionmentioning

confidence: 99%

Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report

et al. 2020

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Background Linear nevus sebaceous syndrome (LNSS) is a rare genetic disease characterized by large linear sebaceous nevus typically on the face, scalp, or neck. LNSS could be accompanied by multisystem disorders including the central nervous system. Herein, we report gene mutational profile via whole exome sequencing of both lesional and non-lesional skin samples in a LNSS patient. Case presentation A 17-year-old girl presented with multisystem abnormalities, including large skin lesions, ocular disorders, abnormal bone development and neurological symptoms. A diagnosis of LNSS was established based on clinical manifestations, histopathological and imaging findings. The skin lesions were resected and no recurrence was noted at the time of drafting this report. Whole exome sequencing of genomic DNA revealed the following 3 mutations in the lesions of the index patient: KRAS (c.35G > A, p.G12D), PRKRIR (c.A1674T, p.R558S), and RRP7A (c. C670T, p.R224W), but no mutation was found in the healthy skin and peripheral blood sample of the index patient, or in the blood samples of her parents and sibling. PCR-mediated Sanger sequencing of DNA derived from lesional skin sample of the index patient verified KRAS mutation, but not PRKRIR (c.A1674T, p.R558S) and RRP7A (c. C670T, p.R224W). None of the 3 mutations was found in Sanger sequencing in skin lesions of 60 other cases of nevus sebaceous patients. Conclusions Our findings show the relevance of KRAS mutation to LNSS, providing new clues in understanding related genetic heterogeneity which could aid genetic counselling for LNSS patients.

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Section: Discussionmentioning

confidence: 99%

Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report

et al. 2020

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“…Full-thickness central corneal grafts can be utilized to achieve good cosmetic results in lamellar keratoplasty [13]. In cases with large and deep defect after excision of the mass lesion, scleral graft or corneal graft can be used to reconstruct the ocular surface [14]. In cases with simultaneous eyelid involvement, eyelid reconstruction should be tailored according to the residual eyelid defect.…”

Section: Discussionmentioning

confidence: 99%

Epibulbar complex choristoma with simultaneous involvement of eyelid: a case report

et al. 2019

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BackgroundEpibulbar complex choristoma, a rare congenital epibulbar tumor, has many diverse forms. Reviewing the literature, it can present clinically as either a circumferential or isolated epibulbar mass, limbal tumor, lateral canthal mass, aggregate of ectopic cilia in the upper eyelid, eyelid mass mimicking chalazion, or lacrimal caruncle mass. The management depends on the extent of involvement, the risk of amblyopia, and cosmetic concerns. Here, we report an atypical presentation of epibulbar complex choristoma with simultaneous eyelid involvement.Case presentationA 1-month-old full-term boy was brought to our clinic with congenital epibulbar mass of the right eye with simultaneous eyelid involvement. Dilated fundus examination was unremarkable. Survey for linear nevus sebaceous Jadassohn was negative. Due to concerns of possible amblyopia and cosmetics, lamellar keratectomy, sclerotomy, and conjunctivoplasty were performed to remove the epibulbar lesion. The eyelid defect was reconstructed with 6–0 Vicryl sutures. Histopathological examination reported complex choristoma. Upon three-year follow-up, low astigmatism and favorable cosmetics results were achieved.ConclusionsCongenital complex choristoma can present clinically as an epibulbar mass with eyelid involvement. The management depends on the extent of involvement, the risk of amblyopia, and cosmetic concerns. The method of eyelid reconstruction should be tailored according to the residual eyelid defect.

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“…Typical coloboma-a defect in the inferonasal quadrant of the iris, retina/RPE/choroid and/or optic nerve-is caused by failure of the ventral optic fissure to close during the fifth week of human gestation (18). Rarely, coloboma and posterior staphyloma are reported in isolated cases (19,20). To evaluate whether EGR1 might be responsible for a subset of patients with coloboma, 67 unrelated patients with this disease were analyzed, but no mutations were identified in the EGR1 coding regions or adjacent intronic regions, indicating that mutations in EGR1 do not explain the occurrence of coloboma in these patients.…”

Section: Mutations Of Egr1 Were Not Found In Patients With Coloboma Andmentioning

confidence: 99%

Genetic background-dependent role of Egr1 for eyelid development

Oh¹,

Wang²,

Chen³

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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EGR1 is an early growth response zinc finger transcription factor with broad actions, including in differentiation, mitogenesis, tumor suppression, and neuronal plasticity. Here we demonstrate that Egr1 −/− mice on the C57BL/6 background have normal eyelid development, but back-crossing to BALB/c background for four or five generations resulted in defective eyelid development by day E15.5, at which time EGR1 was expressed in eyelids of WT mice. Defective eyelid formation correlated with profound ocular anomalies evident by postnatal days 1-4, including severe cryptophthalmos, microphthalmia or anophthalmia, retinal dysplasia, keratitis, corneal neovascularization, cataracts, and calcification. The BALB/c albino phenotype-associated Tyr c tyrosinase mutation appeared to contribute to the phenotype, because crossing the independent Tyr c-2J allele to Egr1 −/− C57BL/6 mice also produced ocular abnormalities, albeit less severe than those in Egr1 −/− BALB/c mice. Thus EGR1, in a genetic backgrounddependent manner, plays a critical role in mammalian eyelid development and closure, with subsequent impact on ocular integrity.Egr1 | eyelid development | ocular abnormalities | tyrosinase | genetic background-specific effects

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Complex limbal choristoma in linear nevus sebaceous syndrome managed with scleral grafting

Cited by 8 publications

References 4 publications

Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report

Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report

Epibulbar complex choristoma with simultaneous involvement of eyelid: a case report

Genetic background-dependent role of Egr1 for eyelid development

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