Pigment anomalies of the skin in the human chimaera: their relation to systematized naevi

Findlay, G. H.; Moores, Phyllis

doi:10.1111/j.1365-2133.1980.tb01663.x

Cited by 68 publications

(33 citation statements)

References 10 publications

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“…In addition, the histopathological changes are different in HI and IP. The various states of human chimerism [Findlay and Moores, 1980] should not be included in the group of HI because in a chimera the dark and the light area of the skin do not represent a cutaneous disease, both components are normal skin. Another neurocutaneous disorder in the differential diagnosis of HI is tuberous sclerosis, yet the hypomelanotic macules should not be confused.…”

Section: Differential Diagnosismentioning

confidence: 99%

Hypomelanosis of Ito: No entity, but a cutaneous sign of mosaicism

Küster¹,

König

1999

Am. J. Med. Genet.

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Hypomelanosis of Ito is a neurocutaneous phenotype comprising pigmentary anomalies, neurological defects, structural malformations, and chromosomal abnormalities. It has been described as a distinct multisystem birth defect or, more specifically, as a neurocutaneous syndrome. The main purpose of this study is to provide evidence that this disorder does not exist as a syndrome. Rather, it is a causally nonspecific pigmentary disorder caused by genetic mosaicism.

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Section: Differential Diagnosismentioning

confidence: 99%

Hypomelanosis of Ito: No entity, but a cutaneous sign of mosaicism

Küster¹,

König

1999

Am. J. Med. Genet.

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“…Three reports of human chimaeras reviewed by Findlay and Moores [1980] were of XX/XY hermaphrodites, in whom it was possible cytogenetically to differentiate the two cell lines in skin fibroblasts. One patient showed XY cells only in pale skin and a mixture of XX and XY in dark skin.…”

Section: Chimaerismmentioning

confidence: 98%

“…Some individuals with segmental dyspigmentation can be shown hematologically to be chimeric, i.e., composed of two cell lines with entirely different genetic make-up [Findlay and Moores, 1980].…”

Section: Chimerismmentioning

confidence: 99%

Cytogenetic and molecular evidence for cutaneous mosaicism: The ectodermal origin of Blaschko lines

Moss

1999

Am. J. Med. Genet.

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The idea that skin disorders following Blaschko lines represent genetic mosaicism is widely accepted. It seems likely that the two skin types represent the two different genotypes, but this has been remarkably difficult to prove, most studies showing a mixture of cell types in biopsies from both types of skin. Only for linear epidermolytic hyperkeratosis has it been possible to show mutant cells confined to the abnormal streaks. The hypothesis proposed here to explain this paradox is that disorders following Blaschko lines are due to mutations in genes expressed in epidermal cells (keratinocytes and melanocytes) rather than in dermal fibroblasts. The work on epidermolytic hyperkeratosis used keratinocytes, whereas most studies have used skin fibroblasts. Almost all disorders following Blaschko lines are epidermal: inflammatory, dysplastic, dyskeratotic, appendage-related, or pigmentary, and the remainder can be explained on the basis of epidermal influences on the dermis. If this hypothesis is correct, it points to a useful model system for elucidating the genetic component of common dermatoses sometimes found in Blaschko lines namely eczema, psoriasis, lichen planus, and vitiligo.

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“…Mosaicism describes an organism composed of a mixture of 2 or more cell populations with distinct genotypes and concomitant patterned phenotypes (lines of Blaschko) originating from a single fertilised egg [3,5,24,25]. It is a biological phenomenon that results when a postzygotic mutation occurs early during embryogenesis in gonadal cells (germline mosaicism) or other cells (somatic mosaicism).…”

Section: Discussionmentioning

confidence: 99%

“…It is a rare event that occurs when there is a dual fertilisation of the egg by 2 sperms or fusion of 2 zygotes [25,26]. Spontaneous cell mixtures in chimeras may also cause the skin to manifest 2 shades of colour and different skin patterns, such as the flag-like rectangular pattern (generalised naevus spilus), a pattern of round patches similar to café-au-lait lesions in von Recklinghausen disease, and a striate pattern imitating the systematised epidermal naevus [26].…”

Section: Discussionmentioning

confidence: 99%

The Puzzle of the Skin Patterns

Tenea¹

2016

Integr Med Int

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Background: The pattern of distribution of skin diseases remains one of the most elusive problems in dermatology, particularly when multiple pathologies are involved and coexistence of patterns is present. Most skin diseases show a predilection for certain body areas and are located in characteristic patterns. Many dermatoses exhibit lesions in a segmental fashion concomitantly with disseminated patterns. Sometimes the sites of predilection are inexplicable. Objectives: The main purpose of this paper is to give an overview on the peculiar arrangement of cutaneous lesions in both congenital and acquired skin disorders as well as reactive phenomena in vulnerable areas, in order to better recognise them clinically and understand their pathogenesis. Methods: Based on personal observations and a review of literature, this paper summarises the basics in understanding the patterned distribution of skin lesions, highlights the significance of the lines of Blaschko and their relationship with mosaicism, and describes some of the reactive skin phenomena. Results: Skin mosaicism plays a crucial role in the distribution and arrangement of skin lesions, as demonstrated by recent advances in genetic research in an increasing number of various skin diseases.

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Pigment anomalies of the skin in the human chimaera: their relation to systematized naevi

Abstract: Double fertilization of the egg may lead to a chimaeric state, in which the cell composition of the individual derives from two zygotes. Some special types of naevoid hyperpigmentation may result. Two new cases are added to the three published cases of chimaerism with skin manifestations.

Cited by 68 publications

References 10 publications

Hypomelanosis of Ito: No entity, but a cutaneous sign of mosaicism

Hypomelanosis of Ito: No entity, but a cutaneous sign of mosaicism

Cytogenetic and molecular evidence for cutaneous mosaicism: The ectodermal origin of Blaschko lines

The Puzzle of the Skin Patterns

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