Unilateral cataract associated with eyelid ash-leaf macule in tuberous sclerosis complex

Selvaraj, Rajalakshmi; Kasturi, Nirupama; Kumari, Pooja; Muraleedharan, Sabreesh

doi:10.1136/bcr-2018-224923

Cited by 3 publications

(5 citation statements)

References 7 publications

(1 reference statement)

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“…10). Notably, the terms 'radial migration lines' 35,[49][50][51] (Fig. 11) or 'cerebral white matter migration lines' 20,21,51 appear to be consistent with this genetic concept.…”

Section: Extracutaneous Manifestations Of Superimposed Mosaicismmentioning

confidence: 67%

“…On rare occasions, patients with TSC may show segmental areas of hypomelanosis which can best be explained as a superimposed mosaic manifestation of the ordinary disseminated ash-leaf spots. Conspicuous examples have inadvertantly been documented by Ortonne et al 33 and Jindal et al 34 Moreover, in a 9month-old boy with bilateral disseminated ash-leaf spots, cerebral tubers and seizures, Selvaraj et al 35 described an unusually large 'ash-leaf macule' involving his left periocular region with ipsilateral cataract (Fig. 7).…”

Section: Segmental Hypomelanosismentioning

confidence: 86%

“…and Jindal et al 34 . Moreover, in a 9‐month‐old boy with bilateral disseminated ash‐leaf spots, cerebral tubers and seizures, Selvaraj et al 35 . described an unusually large ‘ash‐leaf macule’ involving his left periocular region with ipsilateral cataract (Fig.…”

Section: Clinical Features Of Suggesting Superimposed Mosaicism In Tscmentioning

confidence: 99%

“…Segmental hypomelanosis of the left periocular area, with colocalization of cataract and retinal hamartomas, in a 9‐month‐old boy with tuberous sclerosis 35 . (Reproduced with permission from BMJ Publishing Group Ltd., UK).…”

Section: Clinical Features Of Suggesting Superimposed Mosaicism In Tscmentioning

confidence: 99%

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Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Happle

Torrelo

2020

Acad Dermatol Venereol

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In patients with tuberous sclerosis, we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary non-segmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage. So far, the second category has been called 'type 2 segmental mosaicism', but here we propose the short and unambiguous term 'superimposed mosaicism'. In order to render physicians familiar with the manifold manifestations of this category as noted in tuberous sclerosis, we review the following clinical designations under which cases suggesting superimposed mosaicism have been published: forehead plaque; shagreen patch; fibrous cephalic plaque; fibromatous lesion of the scalp; folliculocystic and collagen hamartoma; segmental hypomelanosis; congenital segmental lymphedema; and segmental 'diffuse' lipomatosis. Molecular corroboration of this genetic concept has been provided in a case of forehead plaque and in a child with shagreen patch.-Extracutaneous manifestations suggesting superimposed mosaicism include columnar tuberous brain defects; 'radial migration lines' or 'cerebral white matter migration lines' as noted by brain imaging; linear hamartomatous lesions of the tongue; fibrous dysplasia of bones including macrodactyly; and unilateral overgrowth of an arm or leg.-Remarkably, superimposed mosaicism appears to occur in tuberous sclerosis far more frequently than simple segmental mosaicism.

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“…10). Notably, the terms 'radial migration lines' 35,[49][50][51] (Fig. 11) or 'cerebral white matter migration lines' 20,21,51 appear to be consistent with this genetic concept.…”

Section: Extracutaneous Manifestations Of Superimposed Mosaicismmentioning

confidence: 67%

Section: Segmental Hypomelanosismentioning

confidence: 86%

Section: Clinical Features Of Suggesting Superimposed Mosaicism In Tscmentioning

confidence: 99%

Section: Clinical Features Of Suggesting Superimposed Mosaicism In Tscmentioning

confidence: 99%

See 2 more Smart Citations

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Happle

Torrelo

2020

Acad Dermatol Venereol

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“…3 The latter describes a 9-month-old boy with a large ash-leaf macule in his left periocular region, an ipsilateral cataract, as well as bilateral disseminated ash-leaf spots, cerebral tubers, and seizures. 4 However, our case is particularly interesting due to the extensive hypopigmented patches.…”

mentioning

confidence: 81%

Segmental hypopigmentation and unilateral fibrous patches: an unusual presentation of tuberous sclerosis complex with a novel TSC2 mutation

Wang,

Xing

2024

Int J Dermatology

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Segmental hypopigmentation and unilateral fibrous patches: an unusual presentation of tuberous sclerosis complex with a novel TSC2 mutation Dear Editor, Congenital hypopigmentation disorders encompass a variety of disorders, with or without systemic involvement. It is especially important to identify syndromes with systemic involvement. In this article, we present a unique case of tuberous sclerosis complex with a novel TSC2 mutation to alert clinicians to the potential for unusual manifestations associated with this condition.

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Cataracte congénitale et sclérose tubéreuse de Bourneville : à propos de deux cas

Bouvarel

Rodier-Bonifas

Burillon

2020

Journal Français d'Ophtalmologie

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Unilateral cataract associated with eyelid ash-leaf macule in tuberous sclerosis complex

Cited by 3 publications

References 7 publications

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Segmental hypopigmentation and unilateral fibrous patches: an unusual presentation of tuberous sclerosis complex with a novel TSC2 mutation

Cataracte congénitale et sclérose tubéreuse de Bourneville : à propos de deux cas

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