Incontinentia Pigmenti: Clinical and Genetical Studies of two Familial Cases

Incontinentia pigmenti in Four Generations

“…In accordance with many other reports [ 1,4,8,12], the pedigree which we have report ed here does not prove but suggests the Xlinked theory because all the affected sub jects have been females, transmission has been only via females and affected relatives were only maternal female relatives. In the family spanning three generations, reported by Bjellerup [ 1 ], there were several spontane ous abortions.…”

Incontinentia Pigmenti: A Case Associated with Cardiovascular Anomalies

“…Our patient demonstrates many clinical similarities to previously described IP cases and had typical cutaneous lesions, strabismus, microcephaly, seizures, and an abnormal EEG. In our review of the literature we found a few reports of patients with IP and cardiovascular anomalies (18–22). Gordon (18) has noted variable and infrequent congenital cardiac anomalies in an occasional patient.…”

Neurocutaneous Disorders: Tuberous Sclerosis, Incontinentia Pigmenti, and Hypomelanosis of Ito

“…"~ Cone-shaped or peg-shaped teeth, missing teeth, or a delay in dentition are the more common findings. 36 A wide variety of ocular abnormalities may exist in these patients, especially retinal. Some type of abnormality appears in 33% of patients.…”