SR4096

Incontinentia Pigmenti (IIIE5)

Female

Female

SR4096

Incontinentia Pigmenti (IIIE5)

Female

Female

Highlighted Images

Age at visit: 35 years
OD OS

History

This 35 year old woman had vesicular skin lesions on her trunk and limbs first noted at 7 days of age. Peripheral retinal neovascularization was seen in both eyes at 4 months of age and cryotherapy was performed three times in the ensuing 6 months. An irreperable tractional detachment occured in the left eye during that period. She had her first seizure at age 6 years.

Pedigree

Age at visit: 35 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Incontinentia Pigmenti IKBKG Deletion Exons 4-10   AD
Gene:
Allele 1:
Deletion Exons 4-10
Allele 2:
 
Inheritance:
AD
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