Pigmentary Mosaicism

Fig. 8.1
Linear and whorled nevoid hypermelanosis. A form of pigmentary mosaicism that follows the lines of Blaschko


Fig. 8.2
Pigmentary mosaicism in a lateralization pattern. (a) Front view and (b) back view

Table 8.1
Patterns of pigmentary mosaicism

Patterns of pigmentary mosaicism

Clinical features

Linear and whorled hypermelanosis

Reticulated, streaky, narrow and whorled macules occur along Blaschko lines

Broad band Hyperpigmentarion

Broad band of hyperpigmetation that follow Blaschko lines

Patchy hyperpigmentation

Irregularly shaped macules without midline separation

Checkerboard pattern

Alternating squares of pigmentary anomalies with a sharp midline separation or arranged in a flag-like pattern

Lateralization pattern

Hyperpigmented macules affect only one side with midline separation

Associated extracutaneous manifestations have been reported in as much as 30 % of the cases, although this figure may reflect a reporting bias [10]. The associated findings include developmental delay, autism, seizures, microcephaly, and ocular, cardiac (ventricular septal defects and tetralogy of Fallot), and skeletal abnormalities (digit abnormalities, hemiatrophy).

The associated anomalies are so diverse that clinical investigation should be directed by clinical findings.


An enormous range of cytogenetic abnormalities has been reported in PM, including polyploidy, aneuploidy, and chromosomal deletions, insertions, and translocations. Mosaic trisomy 20, 7, 14, 18, and X-chromosomal have been reported in linear and whorled nevoid hypermelanosis [1113]. The cytogenetic abnormalities may be only be found in fibroblast of affected skin. There is no single genotype for each phenotypic expression of pigmentary mosaicism except may be for phylloid hypermelanosis that has been more consistently related to chromosome 13 aberrations or mosaic chromosome 5p tetrasomy [4, 14] In most cases of pigmentary mosaicism a cytogenetic alteration cannot be detected and several hypotheses have been proposed to explain the abnormal pigmentation, such as comigration of genetically different cell populations, X-chromosome functional disomy, “Spreading” of X inactivation to autosomes, transposons, genetic imprinting, and phenotypic reversion [15].

Histology usually shows hyperpigmentation of the basal keratinocytes with normal number of melanocytes.


  • No effective treatment has been described

There is no effective treatment for pigmentary mosaicism.


The hyperpigmented macules persist throughout life. The prognosis is marked by the associated extracutaneous findings.


Pigmentary mosaicism is a common usually sporadic disorder. Many different names have been used to describe it due to the fact that clinically it may manifest in any of the five patterns of cutaneous mosaicism described by Happle [9].

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Nov 2, 2016 | Posted by in PEDIATRICS | Comments Off on Pigmentary Mosaicism
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