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Hypomelanosis of Ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10),+13/46,XY]
(Turkish J Pediatrics, 2002) Yakinci, C; Kutlu, NO; Alp, MN; Senol, M; Durmaz, Y; Budak, T
The term hypomelanosis of Ito (HI) has been used as a diagnosis for individuals with swirly hypopigmentation or depigmentation distributed along the lines of Blaschko. HI should be appropriately evaluated for a possible association with chromosomal or genetic mosaicism or chimerism. We report a six-month-old severely motor and mental retarded boy with these typical cutaneous lesions associated with extracutaneous features, including facial dysmorphism, polydactyly, and inguinal. hernia. The cytogenetic examination of lymphocytes kdemonstrated a mosaicism of 46, XY, der (13;13) (q10;q10), +13/46, XY. This is the first case reported in the literature showing an association between phylloid pigmentary pattern of hypomelanosis of Ito and trisomy 13 mosaicism.