[Hypomelanosis Ito in translocation trisomy 9/mosaicism (46,XX/46,XX,t(9;9)(p24;p24)). Spontaneous remission in childhood].
A 4 5/12 years old girl with hypomelanosis of Ito (HI) presented on the 3rd day of life with hypopigmented streaks and whorls following the lines of Blaschko on the back, the arms and the legs. In addition, patchy depigmented areas were present on the trunk. Extracutaneous manifestations included dystopia of the right kidney, atrial septal defect, persistent ductus arteriosus, hearing impairment, EEG abnormalities, and asymmetric dilatation of the ventricle system and a vermal atrophy as documented in the MRT of the brain. Cytogenetic analysis showed a mosaic 46,XX/46,XX,t(9;9)(p24;p24) present in the lymphocytes and skin fibroblasts. The mother's karyotype in her lymphocytes was normal. At reexamination at the age of 4 5/12 years the girl was retarded. In particular, the speech development was severely delayed. Interestingly we found only very small areas of hypopigmentation, which, unless one knew the previous findings, would not have been diagnostic.
Dereser-Dennl
M
M
Institut für Humangenetik, Universitäts-Klinikum Frankfurt/M.
Brude
E
E
König
R
R
D002675:Child, Preschool; D002899:Chromosomes, Human, Pair 9; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics*; D012075:Remission, Spontaneous; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*