Improvement of dermatological symptoms in patients with Bachmann-Bupp syndrome using difluoromethylornithine treatment.

Abstract

Bachmann-Bupp syndrome (OMIM #619075) is a novel autosomal dominant disorder caused by variants in the c-terminus of the ornithine decarboxylase 1 gene, resulting in increased levels of ornithine decarboxylase. This case report includes two patients diagnosed with Bachmann-Bupp syndrome who were treated with difluoromethylornithine through compassionate use approval from the United States Food and Drug Administration. In both patients, treatment with difluoromethylornithine has resulted in improved dermatologic signs, including regrowth of eyebrow and scalp hair and cessation of recurrent follicular cyst development.

• Authors: Antara Afrin, Tonia S Afshan, Elizabeth A VanSickle, Julianne Michael, Rachel L Laarman, Caleb P Bupp
• Journal: Pediatric dermatology (Pediatr Dermatol) 2023 May-Jun Vol. 40 Issue 3 Pg. 528-531 ISSN: 1525-1470 [Electronic] United States
• PMID: 36443247 (Publication Type: Case Reports)
• Copyright: © 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.

Chemical References

• Eflornithine
• Ornithine Decarboxylase
• Ornithine Decarboxylase Inhibitors
• Ornithine

Topics

• United States
• Humans
• Eflornithine (therapeutic use)
• Ornithine Decarboxylase (genetics)
• Ornithine Decarboxylase Inhibitors
• Ornithine