Hypomelanosis of Ito.

Pandare SUGATHAN ¹ and André GRABOWSKI ²                                                                                                                                                                                 

 ¹ Department of Paediatric, RIPAS Hospital, Brunei Darussalam and ² Department of Neuroradiology, Jerudong Park Medical Centre, Brunei Darussalam/Krankenhaus Nordwest, Frankfurt, Germany

ABSTRACT

Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome with characteristic whirled hypopigmented skin lesions and neurological manifestations. Less consistently, there may be non-neurological manifestations that include ophthalmic, musculoskeletal, craniofacial, cardiac, genitourinary, and gastrointestinal involvements. We report a case of HI, with typical skin lesions in association with hemimegalencephaly, seizures and mental retardation along with the hitherto unreported repetitive hand movements such as seen in Rett syndrome. 

Keywords: Hemimegalencephaly, hypopigmentations, Ito syndrome, pigmentation disorders

Correspondence author: Pandare SUGATHAN,  Post Office Box 341, Seri Complex, BA 1779, Bandar Seri Begawan, Brunei Darussalam.

Tel: +673 2 423929; +673 8 882984             Fax: + 673 2423930

Email: pandaresugathan@hotmail.com

Brunei Int Med J. 2012; 8 (3): 139-144