[Hypomelanosis of Ito: autism, segmental dilatation of colon and unusual neuroimaging findings].
BACKGROUND
Hipomelanosis of Ito (HI) also called Incontinentia pigmenti achromians, is the third most frequent neurocutaneous disorder. The abnormal skin lesions are more evident under Wood's lamp and consist of hypopigmented areas with irregular borders, streaks, whorls or patches which are usually distributed on the trunk or on the limbs. Non-cutaneous abnormalities, particularly of the central nervous system, eye, teeth and skeleton, have been reported in 76-94% of patients.


CONCLUSIONS
In the present paper, we report two cases of Hipomelanosis of Ito in two female girls with facial coarse features. In the first case the psychomotor development was normal. Segmental dilatation of the colon, precocious pubarchy, abnormal periventricular white matter hipersignal on MRI and nodular mass on left caudate nuclei were also present. In the second case a severe developmental delay and autistic behaviour were the prominent features. To our knowledge, findings described in case 1 were not previously reported in association with HI.
Hermida
A
A
Departamento de Pediatria, Complejo Hospitalario Universitario de Santiago, La Coruña, España.
Eirís
J
J
Alvarez-Moreno
A
A
Alonso-Martín
A
A
Barreiro
J
J
Castro-Gago
M
M
D001321:Autistic Disorder / Q000150:complications*; D001921:Brain / Q000503:physiopathology; D002675:Child, Preschool; D003106:Colon / Q000503:physiopathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D010859:Pigmentation Disorders / Q000150:complications* / Q000175:diagnosis* / Q000503:physiopathology; D012002:Rectal Diseases / Q000150:complications* / Q000503:physiopathology
Hipomelanosis de Ito: autismo, dilatación segmentaria de colon y hallazgo inusual en neuroimagen.