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One-day old infant girl, born at term, presents with blanching erythematous macules, vesicles and pustules scattered on her upper and lower extremities. These lesions progressed rapidly and began to coalesce and take on a linear configuration, even appearing on her trunk and face. A punch biopsy revealed eosinophilic spongiosis. Based on skin findings and histopathology this girl was diagnosed with Incontinentia pigmenti (IP) in accordance with the IP Diagnostic Criteria 2013. IP is a rare, X linked dominant genetic syndrome occurring in 1 of 50,000 births. IP presents with characteristic cutaneous lesions and in varying frequency, extracutaneous manifestations. The cutaneous manifestations appear in four progressive stages. The first stage consists of multifocal and coalescing erythematous macules and patches with overlying tense vesicles on the patient’s trunk and extremities. These lesions are distributed along Blashko lines. In stage two, the lesions become hyperkeratotic appearing similar to viral warts. The lesions in the third stage darken and become hyperpigmented. They may appear as swirled macules. In the final stage hypopigmentation of the lesion occurs. Cutaneous symptoms often do not require additional medical care. Extracutaneous findings include dental, neurologic, and ocular anomalies. Requiring increased frequency of follow up by specialists during early childhood.
Published Date: 2019-01-14; Received Date: 2018-12-18