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KMID : 0381219950270010046
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Journal of RIMSK
1995 Volume.27 No. 1 p.46 ~ p.51
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A Case of Incontinentia Pigmenti Associated with Retinal Abnormalities
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이윤주
임이석/서성준/홍창권/노병인
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Abstract
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Incontinentia pigment(IP) is a hereditary multisystem disorder characterized by highly distinctive skin lesions and variable associated with abnormalities of the hairs, teeth, nails, eyes, central nervous system and musculoskeletal system.
IP is observed predominantly in females and statistical analysis of incontinentia pigmenti pedigrees is consistent with inheritance as an X-linked dominant trait with lethality in the hemizygous male.
We report a case of IP associated with retinal abnormalities. She was a 17-day-old female who, anterior chest, lower abdomen, both axillae and upper and lower extremities since birth.
Ophthalmic examination showed incomplete vascularized fundus in nasal side of the left eye.
Histopathological study showed characteristic findings of vesiculobullous IP.
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KEYWORD
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