Unusual hyperpigmented patches, an undeveloped breast and a cataract in a female with incontinentia pigmenti

Abstract

AbstractA 19‐year‐old female and her mother visited our department with a history of unusual reticular brown‐black patches on their trunks and limbs since infancy. Besides the obviously fulsome hyperpigmentation, the daughter also showed other unusual clinical manifestations such as generalized hypohidrosis, especially on the hyperpigmented patches, cicatricial alopecia, a cataract on her right eye, abnormal teeth and a right dysplastic breast. The mother had a median diastema between her maxillary central incisors, hypoplasia of the enamel, hypohidrosis and hyperpigmented patches on her left thoracic region. Analysis of the NEMO (NF‐κB essential modulator) gene in the patient and her mother revealed a deletion of exons 4–10. Their EDA and EDAR genes were normal.