[Cutaneous polymorph manifestations of familial Mediterranean fever in a child]

Area of Science:

• Pediatrics
• Genetics
• Dermatology

Background:

• Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder.
• It typically presents with recurrent fever and polyserositis (peritonitis, pleuritis, arthritis).
• Cutaneous manifestations are less common but can occur.

Observation:

• A 4-year-old child presented with recurrent fever and significant skin lesions.
• Observed cutaneous features included erysipelas-like erythema, palmar/plantar edema, and purpuric lesions.
• Differential diagnoses considered were infectious erysipelas, Kawasaki disease, and Henoch-Schönlein purpura.

Findings:

• Genetic analysis confirmed Familial Mediterranean Fever (FMF) in the patient.
• A homozygous M694V mutation was identified, a known mutation associated with FMF.
• Erysipelas-like erythema was the most frequent cutaneous sign, uniquely associated with the M694V homozygous mutation in this case.

Implications:

• This case underscores the importance of recognizing diverse cutaneous presentations in diagnosing FMF.
• The polymorphism of skin lesions in this patient adds to the understanding of FMF's clinical spectrum.
• Accurate diagnosis through clinical observation and genetic testing is crucial for appropriate management of FMF.