Hypomelanosis of ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10), +13/46,xy].
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 demonstrated 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.
Yakinci
Cengiz
C
Department of Pediatrics, Dicle University Faculty of Medicine, Diyarbakir, Turkey.
Kutlu
Nurettin Onur
NO
Alp
M Nail
MN
Senol
Mustafa
M
Durmaz
Yaşar
Y
Budak
Turgay
T
D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003937:Diagnosis, Differential; D004569:Electroencephalography; D017809:Fatal Outcome; D006801:Humans; D017496:Hypopigmentation / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D013036:Spasms, Infantile / Q000235:genetics; D014314:Trisomy / Q000235:genetics*