Axenfeld anomaly in association with hypomelanosis of Ito.
Hypomelanosis of Ito is a rare neurocutaneous disorder with associated ocular, facial, dental and skeletal abnormalities. The authors describe a case of hypomelanosis of Ito occurring with anterior segment mesenchymal dysgenesis of the Axenfeld type. An attempt is made to explain many of the major features of hypomelanosis of Ito in terms of neural crest origin, and to classify the disease as a neurocristopathy.
Flaherty
M P
MP
Department of Ophthalmology, Westmead Hospital, Sydney, Australia.
Padilla
C D
CD
Sillence
D O
DO
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D000869:Anterior Eye Segment / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D010859:Pigmentation Disorders / Q000473:pathology*; D000267:Tissue Adhesions