Incontinentia pigmenti in an XY boy: case report and review of the literature.

BACKGROUND: Incontinentia pigmenti (IP) is a rare genetic skin disorder with X-linked dominant inheritance and a characteristic sequence of cutaneous manifestations, which is regarded as lethal in XY males. OBJECTIVE: To report a case of a surviving XY male with the common IKBKG (NEMO) gene deletion confirming IP. METHODS AND RESULTS: A newborn XY male with suspected IP underwent a skin biopsy on affected tissue for histopathology. Molecular genetic testing was also performed on the specimen and revealed the common IKBKG gene deletion with a pattern suggestive of somatic mosaicism. Our findings are aligned with a PubMed literature review for XY males with IP and documented IKBKG mutation. We determined that only 10 such genetically proven cases have been reported, including our case. CONCLUSION: Although relatively rare, cases of IP in XY males with the common NEMO mutation have likely been underreported due to the unavailability of appropriate testing in the past. Karyotype and molecular testing should be considered when clinical suspicion of IP arises for a male patient.

Lupus miliaris disseminatus faciei with extrafacial involvement in a 17-year-old white girl.

BACKGROUND: Lupus miliaris disseminatus faciei (LMDF) is a benign condition characterized by a papular eruption located in the central face. Histologic studies of the papules show granulomatous infiltrates with central necrosis. The condition is self-limited and usually resolves within 1 to 2 years yet can be cosmetically debilitating, given the location and potential for scarring. Granulomatous periorificial dermatitis similarly affects the face with granulomatous lesions and may overlap clinically with LMDF. CONCLUSION: This report highlights the challenge in differentiating and treating uncommon granulomatous facial dermatoses.