Hypomelanosis of Ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10),+13/46,XY]

Yakinci C., Kutlu N., Alp M., Senol M., Durmaz Y., Budak T.

TURKISH JOURNAL OF PEDIATRICS, cilt.44, ss.152-155, 2002 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 44 Konu: 2
  • Basım Tarihi: 2002
  • Sayfa Sayıları: ss.152-155


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.