Bloch–Sulzberger Syndrome (Incontinentia Pigmenti) in a Male Infant: A Case Report and Review of Genetic and Clinical Insights

Bloch–Sulzberger Syndrome (BSS), also known as Incontinentia Pigmenti (IP), is a rare X-linked dominant neurocutaneous disorder affecting the skin, central nervous system, eyes, teeth, and hair. It predominantly affects females, as hemizygous male embryos are usually nonviable. Survival in males is exceptionally rare and often associated with chromosomal abnormalities or somatic mosaicism. We report a full-term male neonate born to a non-consanguineous primigravida mother with no relevant family history. The infant developed recurrent seizures and characteristic cutaneous lesions shortly after birth, including vesiculobullous eruptions over the scalp with alopecia and linear hyperpigmentation along Blaschko lines on the trunk and limbs. Ocular abnormalities were also present. Diagnostic evaluation fulfilled major criteria with stage 1 (vesicular), stage 2 (verrucous), and stage 3 (hyperpigmented) lesions, along with minor neurological, ocular, and hair involvement. Peripheral eosinophilia and eosinophils in vesicular fluid supported the diagnosis. Differential diagnoses, including neonatal herpes simplex and other linear pigmentary disorders, were excluded clinically and histopathologically. Molecular testing for IKBKG mutation and neuroimaging were advised but not performed due to financial constraints. Despite supportive management, the infant succumbed to refractory seizures. A literature review using PubMed and Google Scholar was conducted to summarise current evidence on the genetics, pathogenesis, clinical manifestations, diagnosis, and management of Bloch–Sulzberger Syndrome. This case underscores the rarity and severity of BSS in males. Early recognition of staged dermatologic findings and systemic involvement is crucial for multidisciplinary care, genetic counselling, and improved clinical outcomes.

Keywords: Incontinentia Pigmenti, Bloch–Sulzberger Syndrome, IKBKG mutation, NF-κ,,,,,, B pathway, male survival, neurocutaneous disorder, genetic counselling.