Congenital choroidal melanocytoma in a child with ocular melanocytosis

Maniar, Arpita; Jakati, Saumya; Kaliki, Swathi

doi:10.1136/bcr-2019-231376

Cited by 6 publications

(2 citation statements)

References 31 publications

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“…Also, patients with melanocytosis who developed uveal melanoma have a higher risk for metastasis, and their metastases are more invasive than those of ocular melanoma patients without melanocytosis ( Shields et al, 2013 ). Although the potential underlying mechanisms remain unknown, one suspects a link to mutations affecting NC cells ( Abdolrahimzadeh et al, 2023 ; Benson and Rennie, 1992 ), with the possibility that such mutations may affect the migration of NC-derived melanocytes ( Maniar et al, 2019 ; Plateroti et al, 2017 ). Hence, our Sufu -cKO mouse model could provide insights into the pathogenesis of this disorder.…”

Section: Discussionmentioning

confidence: 99%

Disrupting Hedgehog signaling in melanocytes by SUFU knockout leads to ocular melanocytosis and anterior segment malformation

Wang

et al. 2023

Disease Models &Amp; Mechanisms

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Hedgehog (Hh) signaling is well known for its crucial role during development but its specific role in individual cell lineages is less well characterized. Here we disrupted Hh signaling specifically in melanocytes by using a Cre-mediated cell type-specific knockout strategy of the Hh regulator Suppressor of Fused (Sufu). Interestingly, corresponding mice are fully pigmented and show no developmental alterations in melanocyte numbers or distribution in skin and hair follicles. However, there are ectopic melanoblasts visible in the anterior chamber of the eye that are eventually displays a severe malformation. Choroidal melanocytes remain unaltered. Surprisingly, the abnormal accumulation of anterior uveal melanoblasts is not the result of increased cell proliferation but of increased migration to ectopic locations such as the cornea. In melanoblasts in vitro, Sufu knockdown replicates the increase in cell migration without affecting proliferation and is mediated by an increased level of phospho-ERK brought about by a reduction of the levels of the repressor form of GLI3. The results highlight the developmental divergence of distinct melanocyte subpopulations and may shed light on the pathogenesis of human ocular melanocytosis.

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Section: Discussionmentioning

confidence: 99%

Disrupting Hedgehog signaling in melanocytes by SUFU knockout leads to ocular melanocytosis and anterior segment malformation

Wang

et al. 2023

Disease Models &Amp; Mechanisms

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“…The relevant differential diagnosis of isolated choroidal melanocytosis having the clinical characteristics of the cases comprising the current series includes broad-based (diffuse) choroidal nevus [19], diffuse choroidal melanocytoma [28][29][30], acquired bilateral patchy-streaky choroidal melanocytic fundopathy associated with systemic disorders such as cutaneous vitiligo [11,12] and Waardenburg syndrome [13][14][15] but also occurring idiopathically in some individuals [5,6], acquired bilateral zonal choroidal melanocytic fundopathy that is age-related [4,8,16] or associated with treatment with certain therapeutic agents [17], and diffuse uveal melanocytic proliferation associated with an underlying systemic malignancy [31].…”

Section: Differential Diagnosis Of Isolated Choroidal Melanocytosismentioning

confidence: 99%

Isolated choroidal melanocytosis: clinical update on 37 cases

Augsburger

Brooks

Corrêa

2020

Graefes Arch Clin Exp Ophthalmol

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Purpose Isolated choroidal melanocytosis is a congenital melanocytic hyperpigmentation involving the choroid that is not associated with iridic or scleral features of ocular melanocytosis. The purpose of this work was to describe the clinical features and course of a relatively large series of patients with this disorder. Methods A retrospective clinical study of 37 patients with isolated choroidal melanocytosis encountered in a single practice 1986–2018 was done. All lesions were 5 mm or larger in the largest basal diameter, homogeneously melanotic, and completely flat by conventional ocular ultrasonography. Results The 37 patients ranged in age from 2 weeks to 87 years (mean 31.5 years, median 18 years) at initial diagnosis of the melanotic choroidal lesion. Arc length largest basal diameter of the melanotic choroidal lesion ranged from 5.5 to 37 mm (mean 14.6 mm, median 13 mm). The lesion extended beneath the fovea in 18 eyes and to the optic disc margin in 6 eyes. Ten of the lesions straddled the ocular equator, but the center point of all of the lesions was posterior to the equator. The retina was fully attached and appeared normal over the melanotic choroidal lesion in each of these eyes. None of the melanotic choroidal lesions exhibited clumps of orange pigment or drusen on its surface. The lesion was unilateral and unifocal in 36 of the 37 patients. One patient had bilateral choroidal melanocytosis that was isolated in one eye but associated with partial iris melanocytosis in the fellow eye. Three adult patients had a choroidal melanoma localized to the patch of choroidal melanocytosis at baseline. One other adult patient had a choroidal melanoma in the fellow eye at baseline. One pediatric patient had viable unilateral non-familial retinoblastoma in the fellow eye and two adult patients had a classic choroidal nevus in the fellow eye. None of the flat patches of choroidal melanocytosis that were monitored periodically after initial diagnosis expanded appreciably during follow-up ranging from 4.9 months to 15.2 years (mean 5.0 years, median 2.3 years). Conclusions Isolated choroidal melanocytosis is a distinct clinical entity that must be distinguished from broad-based choroidal nevus, choroidal melanocytoma, small choroidal malignant melanoma, acquired bilateral patchy-streaky choroidal melanocytic fundopathy associated with disorders such as cutaneous vitiligo and Waardenburg syndrome, acquired bilateral zonal choroidal melanocytic fundopathy, and diffuse uveal melanocytic proliferation associated with systemic cancer. This disorder appears to predispose affected eyes to development of choroidal melanoma arising from the hypermelanotic patch.

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Melanocytomas

Stathopoulos

Zografos

2022

Albert and Jakobiec's Principles and Practice of Ophthalmology

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Congenital choroidal melanocytoma in a child with ocular melanocytosis

Cited by 6 publications

References 31 publications

Disrupting Hedgehog signaling in melanocytes by SUFU knockout leads to ocular melanocytosis and anterior segment malformation

Disrupting Hedgehog signaling in melanocytes by SUFU knockout leads to ocular melanocytosis and anterior segment malformation

Isolated choroidal melanocytosis: clinical update on 37 cases

Melanocytomas

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