Uncommon Presentation of Bloch-Sulzberger Syndrome in a Male Neonate: Case Report and Literature Review

Abstract

Background:The uncommon X-linked dominant inheritable disorder known as
Bloch-Sulzberger Syndrome (BSS) or Incontinentia Pigmenti (IP) affects the
skin, eyes, teeth, and nervous system. The syndrome is typically lethal in
hemizygous male embryos, making survival to term extremely rare.
Case Presentation: A full-term male infant delivered to a primigravida woman
who had no family history of such conditions, and no history of consanguinity
presented with convulsions, vesicular lesions on the vertex, alopecia, varied
pigmentation on the trunk and limbs, and ocular manifestations. Diagnostic
criteria for BSS included major criteria of stages 1, 2, and 3 skin
manifestations, minor criteria of ocular, hair, and neurological involvement, and
additional criteria of increased eosinophils in blood and vesicular fluid.
Differential diagnoses were ruled out based on clinical and histopathological
features. Affordability influenced the consideration of molecular tests for
IKBKG gene mutation and MRI brain. Genetic counseling was provided to the
parents.
Conclusion: This case highlights the importance of comprehensive clinical
evaluation, multidisciplinary management, and genetic counseling in BSS. The
survival of this male infant for a few days after birth with BSS adds valuable
insight into the syndrome's variability and presentation, emphasizing the need
for accessible genetic testing and ongoing research to improve patient care.