Effects of dupilumab in type 1 neurofibromatosis coexisting with severe atopic dermatitis

Abstract

Neurofibromatosis type 1 still lacks established treatment options aimed at controlling the progression of neurofibromas as well as effective therapy for the neurogenic itch associated with the disease. We report the case of a 30-year-old Caucasian woman with type 1 neurofibromatosis coexisting with severe refractory atopic dermatitis. Dupilumab, a novel anti-IL-4 receptor alpha monoclonal antibody, the first biologic agent approved for atopic dermatitis, was the drug of choice in this case. We observed remission of atopic dermatitis and a remarkable reduction in the size and swelling of neurofibromas and in the related pruritus, that became evident after one month of treatment. After 18 months of therapy, no new neurofibromas were detected and preexistent lesions showed no increase in size. These findings are consistent with the hypothesis that dupilumab, a potent anti-inflammatory drug, may have a positive effect on type 1 neurofibromatosis by stopping the progression of preexisting neurofibromas and the onset of new lesions.

Dupilumab in the treatment of genodermatosis: A systematic review

“…In addition, asthma in one patient with keratin‐10 mutation‐related ichthyosis showed better control after drug initiation 34 . In another patient with NF‐1, the number of neurofibromas stabilized after dupilumab use and the size of some larger neurofibromas even decreased 38 …”

“…62,63 Dupilumab may interfere with the binding of IL-4 and IL-13 to type I and type II receptors on mast cells and fibroblasts, thereby halting the progression and decreasing the size of neurofibromas. 2,38 Lastly, in IPEX syndrome, a master control gene of regulatory T cells called FOXP3 is mutated, resulting in skewed activation and proliferation of Th2 cells as in atopic dermatitis, hence allowing dupilumab to achieve clinical improvement in the case reported by Maher et al 41,64 Although driven by different mechanisms, the efficacy of dupilumab in the treatment of these diseases was expected.…”

“…34 In another patient with NF-1, the number of neurofibromas stabilized after dupilumab use and the size of some larger neurofibromas even decreased. 38…”

Dupilumab in Inflammatory Skin Diseases: A Systematic Review

“…One report of a patient with neurofibromatosis type 1 treated with dupilumab for concomitant AD showed a size reduction of preexisting neurofibromas and stable size and number of neurofibromas for a follow-up of 1.5 years [ 210 ].…”

Dupilumab zur Behandlung von Genodermatosen: Eine systematische Übersicht

“…Insgesamt wurden in sechs Studien acht Patienten identifiziert, darunter Patienten mit Morbus Hailey‐Hailey (3 Patienten), Neurofibromatose‐1 (NF‐1) (1 Patient) Ichthyose (1 Patient), Aarskog‐Scott‐Syndrom (1 Patient), hypohidrotische ektodermale Dysplasie (1 Patient) und Immundysregulation, Polyendokrinopathie, Enteropathie, X‐chromosomales (IPEX) Syndrom (1 Patient) 34–41 . Patienten mit Morbus Hailey‐Hailey wiesen erythematöse und mazerierte Papeln im Bereich der Intertrigines auf.…”