Bathing suit ichthyosis: a case report of a 13-year-old boy with unique clinical features and genetic insights from Syria.

Introduction: Autosomal recessive congenital ichthyosis comprises a group of disorders characterized by defects in skin barrier function, including subtypes such as bathing suit ichthyosis (BSI). This condition is linked to the temperature-sensitive variants in transglutaminase 1 (TGM1), leading to distinctive scaling patterns.

Case Presentation: We report the case of a 13-year-old boy born to consanguineous parents, who initially presented at birth with a collodion membrane. Upon examination, he exhibited large, dark brown, plate-like scales primarily affecting the trunk, with normal skin on the central face and buttocks. His history indicated seasonal exacerbations, and the two affected sisters suggested a hereditary pattern. A skin incisional biopsy supported the diagnosis of BSI.

Discussion: BSI is characterized by the development of large plate-like scales following the shedding of a collodion membrane. The condition's genetic basis of the condition is linked to TGM1 mutations, with this case being the first documented instance in Syria. The effective management strategy employed underscores the importance of recognizing BSI's clinical features of BSIs and potential treatment options.

Conclusion: This case highlights the necessity for awareness of BSI and its genetic underpinnings, along with effective management strategies that improve patient outcomes. Further genetic analysis is recommended to deepen our understanding of the condition's pathophysiology of this condition.