Muckle-Wells syndrome in the setting of basal cell nevus syndrome

Area of Science:

• Genetics
• Immunology
• Dermatology

Background:

• Muckle-Wells syndrome (MWS) is an autosomal-dominant hereditary periodic fever syndrome caused by NLRP3 mutations, leading to IL-1β overproduction and systemic inflammation.
• Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is an autosomal-dominant genodermatosis linked to PTCH1 mutations, presenting with diverse anomalies.

Observation:

• A patient with co-existing Muckle-Wells syndrome and Basal cell nevus syndrome presented with complications during basal cell carcinoma treatment.
• The treatment for basal cell carcinoma in this patient triggered or exacerbated symptoms characteristic of Muckle-Wells syndrome.

Findings:

• This case illustrates a complex interaction between two distinct autosomal-dominant genetic disorders.
• The inflammatory response in Muckle-Wells syndrome was notably affected by the management of basal cell carcinoma, a condition associated with Basal cell nevus syndrome.

Implications:

• Understanding these interactions is crucial for managing patients with multiple rare genetic conditions.
• This case underscores the need for careful monitoring and tailored treatment strategies in individuals with overlapping syndromes like MWS and BCNS.