Mosaicism in Human Skin: Understanding the Patterns and Mechanisms

doi:10.1001/archderm.1993.01680320094012

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Vol. 129 No. 11, November 1993

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Mosaicism in Human Skin

Understanding the Patterns and Mechanisms

Rudolf Happle, MD

Arch Dermatol. 1993;129(11):1460-1470.

Abstract

Background
The skin is especially suitable for the study of mosaicism.In this review, the various genetic mechanisms leading to mosaicismand the resulting cutaneous patterns are considered.

Observations
Mosaicism may produce different cutaneous patterns such as thelines of Blaschko, the checkerboard pattern, the phylloid pattern,and a patchy pattern without midline separation. A unique lateralizationpattern is observed in the CHILD syndrome. Two major geneticcategories are functional mosaics resulting from X inactivationand genomic mosaics caused by autosomal mutations. Functionalmosaicism may be caused by either male-lethal or nonlethal X-linkedmutations. Similarly, autosomal mutations resulting in genomicmosaicism may be either lethal or nonlethal. Many mosaics arecaused by loss of heterozygosity, and uncommonly this mechanismmay give rise to twin spots such as vascular twin nevi. Somecutaneous mosaic phenotypes virtually always occur sporadically,but exceptionally may show a familial aggregation. This paradoxmay be explained by paradominant inheritance. Heterozygous individualsare, as a rule, unaffected, but they express the birthmark whenallelic loss occurs during embryogenesis.

Conclusions
The concept of cutaneous mosaicism is important for gene mappingbecause here we have the opportunity to study two populationsof cells differing only with regard to the mutation causingmosaicism. Future research will probably show that a specificgenetic anomaly, when present as a mosaic, always produces thesame type of cutaneous pattern.

(Arch Dermatol. 1993;129:1460-1470)

Author Affiliations

From the Department of Dermatology, University of Marburg (Germany).

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