ALA-PDT for giant condyloma acuminatum in an immunodeficient child with BCL11B mutation: safety and efficacy.
Qingbo Pan, Yang He, Xia Lei et al.
✦ AI-curated · Sources linked
Case in brief
A pair of siblings with a BCL11B mutation presented with giant condyloma acuminatum and intellectual developmental disorder. They underwent treatment combining liquid nitrogen cryotherapy and ALA-PDT, resulting in nearly complete resolution of the lesions without significant side effects. Genetic testing identified a pathogenic mutation in BCL11B, linking it to their skin and neurological symptoms. Dupilumab treatment improved their atopic dermatitis-like lesions.
What made this case unusual
The case highlights a previously unreported pathogenic mutation in the BCL11B gene, linking it to both neurological and dermatological manifestations in the patients.
Diagnostic / clinical pearl
Clinicians should consider the implications of BCL11B mutations in patients with combined neurological and dermatological symptoms, as they may indicate underlying immunodeficiency.
Why it matters
This case underscores the potential of ALA-PDT as a safe and effective treatment for giant condyloma acuminatum in immunodeficient children, expanding treatment options in this challenging population.