ALA-PDT for Giant Condyloma Acuminatum in an Immunodeficient Child with BCL11B Mutation: Safety and Efficacy.

BACKGROUND: The treatment of giant condyloma acuminatum in immunodeficient children remains change. In immunodeficient children, human papillomavirus infection may progress to extensive condyloma acuminatum (CA), where 5-aminolevulinic acid photodynamic therapy (ALA-PDT) has shown favorable tissue-sparing properties. This case aims to highlight the safety and efficacy of ALA-PDT on giant condyloma acuminatum in an immunodeficient child induced by BCL11B mutation. METHODS: This report examines two affected siblings presenting with combined neurological and dermatological symptoms. Clinical assessments were conducted to evaluate intellectual development and skin manifestations. Genetic testing was performed to identify underlying mutations. The CA lesions were treated with the combined regimen of liquid nitrogen cryotherapy and ALA-PDT (90 mW/cm2, 20min). RESULTS: The CA lesions achieved nearly complete resolution with an absence of notable side effects by ALA-PDT with cryotherapy. In addition, both siblings exhibited pronounced intellectual developmental disorder alongside atopic dermatitis-like lesions. Genetic analysis revealed a previously unreported pathogenic mutation in the BCL11B gene (c.1585G>T[p.Glu529*]) in both patients. The recommended diagnosis was IDDSFTA with concomitant Hyper-IgE Syndrome (HIES). Notably, the dermatological manifestations showed improvement following treatment with Dupilumab. CONCLUSION: This case provides novel evidence supporting the safety and potential advantages of ALA-PDT for CA in the immunodeficient pediatric settings. Meanwhile, these findings deepen the understanding of the clinical implications of the neurological gene BCL11B mutation (c.1585G>T[p.Glu529*]) in skin disorders.