Ulcerative systematized porokeratosis (Mibelli)

Area of Science:

• Dermatology
• Clinical Genetics

Background:

• Porokeratosis (Mibelli's disease) is a rare genetic skin disorder characterized by abnormal keratinization.
• Typical presentations involve distinct, slow-growing lesions.

Observation:

• An infant presented with an unusual, widespread variant of porokeratosis shortly after birth.
• Lesions predominantly affected the right side of the body, with spontaneous, recurrent ulcerations at specific sites.
• Severe atrophic scarring and gross deformity of the right foot resulted from ulcerations.

Findings:

• Biopsy of classical lesions confirmed the presence of a cornoid lamella, a hallmark of porokeratosis.
• The clinical presentation suggests a distinct, aggressive, and potentially systemic variant.

Implications:

• The proposed term "ulcerative systematized porokeratosis" aims to classify this unique clinical entity.
• This case highlights the diverse and severe manifestations of porokeratosis, necessitating further research into its pathogenesis and management.