Pigmentary mosaicism: A report of five cases from a tertiary care hospital in South India
DOI:
https://doi.org/10.66344/jpad.34.3.2024.2523Keywords:
Hypopigmentation, Hyperpigmentation, Lines of Blaschko, Pigmentary mosaicismAbstract
Pigmentary mosaicism is a term that describes various patterns of segmental pigmentation disorders based on genetic heterogenicity of skin cells. Pigmentary mosaicism is a collective term, which comprises phenotypes represented by mosaic hypo- and/ or hyperpigmentation in the form of whorls, patchy, streaks or more bizarre skin configurations. Melanocyte precursors are neural crest derived and migrate through the Dorso-lateral pathway during embryogenesis. This group of disorders may be associated with or without systemic abnormalities. In a considerable number of cases, pigmentary mosaicism is observed alongside extracutaneous oddities generally affecting the musculoskeletal system and central nervous system. Pigmentary mosaicism includes a variety of inherited, patterned pigmentary dermatoses which have been described using various terms such as hypo melanosis of Ito, linear and whorled nevoid hypermelanosis, phylloid hypo- and hypermelanoses and pigmentary mosaicism of both hypopigmented and hyperpigmented type. Here, we present a series of 5 cases of pigmentary mosaicism in a single report.
References
Faletra F, Berti I, Tommasini A, Pecile V, Cleva L, Albertini E, et al. Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis. Dermatology. 2012;225:294–7.
Gajecka M. Unrevealed mosaicism in the next-generation sequencing era. Mol Gen Genomics. 2016;291:513–30.
Niessen RC, Jonkman MF, Muis N, Hordijk R, van Essen AJ. Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X). Am J Med Genet A. 2005;137(3):313-22.
Kromann AB, Ousager LB, Ali IK, Aydemir N, Bygum A. Pigmentary mosaicism: a review of original literature and recommendations for future handling. Orphanet J Rare Dis. 2018;13(1):1-0.
Kouzak SS, Mendes MS, Costa IM. Cutaneous mosaicisms: concepts, patterns and classifications. Anais Brasileiros de Dermatologia. 2013;88:507-17.
Schaffer JV. Pigmentary mosaicism. Clin Dermatol. 2022;40(4):322-38.
Salas-LabadÃa C, Gómez-Carmona S, Cruz-AlcÃvar R, MartÃnez-Anaya D, Del Castillo-Ruiz V, Durán-McKinster C, et al. Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations. Orphanet J Rare Dis. 2019;14(1):259.
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