Pigmentary abnormalities in trisomy of chromosome 13. 1998

T Pillay, and W S Winship, and P K Ramdial
Department of Paediatrics, University of Natal, South Africa. pillayti@med.und.ac.za

This paper documents an unusual pigmentary mosaicism in a patient with translocation trisomy of chromosome 13. The dermatological lesions include: (1) broad hypopigmented bands following the typical description of Blaschko's lines on the dorsal aspect of both lower limbs; (2) horizontal linear streaks over the spine without the typical central V-shaped dip of Blaschko; and (3) a 'patchwork' hypopigmentation over the face, neck, chest, upper limbs and ventral surface of lower limbs. The lesions in (3) resemble the rare 'phylloid' or leaf-like pigmentary mosaicism type 3 of Happle, but differ in that the pattern shows no midline separation. A translocation trisomy 13 was uniformly detected on peripheral lymphocyte and skin fibroblast cultures from the hypopigmented and normal skin and there was no evidence of cytogenetic mosaicism or chimerism. These lesions resemble those of hypomelanosis of Ito on histopathological assessment.

UI MeSH Term Description Entries
D002882 Chromosomes, Human, Pair 13 A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. Chromosome 13
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012880 Skin Pigmentation Coloration of the skin. Skin Color,Skin Tone,Color, Skin,Colors, Skin,Pigmentation, Skin,Pigmentations, Skin,Skin Colors,Skin Pigmentations,Skin Tones,Tone, Skin,Tones, Skin
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D014314 Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial

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