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World J Dermatol. Aug 2, 2012; 1(2): 6-9
Published online Aug 2, 2012. doi: 10.5314/wjd.v1.i2.6
Pigmentary mosaicism and specific forms of phylloid hypo- and hypermelanosis
Naoki Oiso, Akira Kawada
Naoki Oiso, Akira Kawada, Department of Dermatology, Kinki University Faculty of Medicine, Osaka 589-8511, Japan
Author contributions: Oiso N and Kawada A contributed equally to this paper.
Correspondence to: Naoki Oiso, MD, PhD, Department of Dermatology, Kinki University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama, Osaka 589-8511, Japan.
Telephone: +81-72-3660221 Fax: +81-72-3682120
Received: February 4, 2012
Revised: July 13, 2012
Accepted: July 26, 2012
Published online: August 2, 2012

Pigmentary mosaicism is proposed to encompass all pigment anomalies caused by chromosomal mosaicism. The concept includes, not only pigment anomalies following the lines of Blaschko, but also pigmentary disorders with phylloid, checkerboard and patchy pigmentation without midline separation. The representative disorders are hypomelanosis of Ito (pigmentary mosaicism of hypopigmented or Ito type), linear and whorled nevoid hypermelanosis (pigmentary mosaicism of hyperpigmented type), pigmentary mosaicism of hypopigmented and hyperpigmented type, and phylloid hypo- and hypermelanosis. Pigmentary mosaicism is nowadays recognized as a pigmentary disorder caused by somatic chromosomal abnormalities disrupting or accelerating the function of pigmentary genes. Affected individuals with pigmentary mosaicism commonly have multiple congenital abnormalities, developmental delays and/or mental retardation. However, the complication is not a syndrome because functional loss or acquisition due to various chromosomal abnormalities induces pigment abnormalities and specific complications. Cytogenetic abnormalities, including polyploidy, aneuploidy, deletions, insertions and translocations, are associated with almost any chromosome and tissue-limited mosaicism for chromosome abnormalities. Cytogenetic findings in cases with the phylloid pattern demonstrate the obvious causal relationship between phylloid hypomelanosis and mosaic trisomy 13. The pattern of cutaneous mosaicism depends on the trajectory of migration and proliferation during embryogenesis. The chromosomal regions of hot breakpoints in pigmentary mosaicism may contain pigmentation-associated genes. The accumulation of relationships between cases and chromosomal analyses may provide the opportunity to identify and understand the pigmentation-associated genes because more than 800 phenotypic alleles are known in the mice models of pigmentary anomalies and not all color loci have been identified. Here, we summarize the clinical features of pigmentary mosaicism and specific forms of phylloid hypo- and hypermelanosis.

Keywords: Pigmentary mosaicism, Hypomelanosis of Ito, Linear and whorled nevoid hypermelanosis, Phylloid hypomelanosis, Phylloid hypermelanosis, The lines of Blaschko, Phylloid pattern