Angiofibromas faciales múltiples unilaterales: aportación de un nuevo caso

Bordel-Gómez, M.T.; Monteagudo‐Sánchez, Benigno; Álvarez-Fernández, Jesús-Andrés

doi:10.1016/s0001-7310(08)74972-x

Cited by 7 publications

(3 citation statements)

References 11 publications

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“…[9] In 2008, Bordel-Gómez reported a 28-year-old male with unilateral angiofibromas. [10] Lopez, et al . in 2009, reported a case of unilateral eyelid angiofibroma with complete blepharoptosis as a presenting sign of TSC.…”

Section: Discussionmentioning

confidence: 99%

Unilateral multiple facial angiofibromas: A case report with brief review of literature

Gutte

Khopkar

2013

Indian J Dermatol

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Tuberous sclerosis (TSC) is an autosomal dominant hereditary condition with many varied forms of clinical presentation. The most frequent cutaneous findings in TSC include multiple angiofibromas, hypopigmented macules, periungual fibromas, and shagreen patch. Rarely, unilateral multiple facial angiofibromas have been reported. We report a case of unilateral multiple facial angiofibromas without any other manifestations of TSC. Although rare, unilateral multiple facial angiofibromas may be a mosaic form of TSC.

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Section: Discussionmentioning

confidence: 99%

Unilateral multiple facial angiofibromas: A case report with brief review of literature

Gutte

Khopkar

2013

Indian J Dermatol

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“…27,67 Subsequently, this case was mistaken by two groups as an example of simple segmental TSC. 13,14 Others have explained large shagreen patches as representing simple segmental mosaicism. 68 Notably, superimposed mosaicism tends to occur in TSC far more often than simple segmental mosaicism.…”

Section: Conclusive Remarksmentioning

confidence: 99%

“…9,12 Until today, however, confusion prevails regarding the mosaic manifestations of TSC because many authors do not discriminate between the two distinct categories, simple segmental vs. superimposed mosaicism. 11,[13][14][15] Therefore, the purpose of the present review is to render readers familiar with pronounced mosaic cutaneous or extracutaneous lesions being superimposed on the ordinary, non-segmental phenotype. So far, this distinct type of mosaicism has been described as 'type 2 segmental manifestation' 12 or 'type 2 segmental mosaicism'.…”

Section: Introductionmentioning

confidence: 99%

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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Mosaic Manifestation of Autosomal Dominant Skin Disorders

Happle

Torrelo

2022

Mosaicism in Human Skin

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Angiofibromas faciales múltiples unilaterales: aportación de un nuevo caso

Cited by 7 publications

References 11 publications

Unilateral multiple facial angiofibromas: A case report with brief review of literature

Unilateral multiple facial angiofibromas: A case report with brief review of literature

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

Mosaic Manifestation of Autosomal Dominant Skin Disorders

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