Unilateral hyperkeratotic plaques along blaschko lines.

Area of Science:

• Dermatology
• Genetics
• Rare Diseases

Background:

• Epidermolytic ichthyosis (EI), also known as epidermolytic hyperkeratosis, is a congenital skin disorder.
• EI classically presents with generalized erythroderma and skin fragility (blistering) at birth, improving over time.
• The condition typically evolves to hyperkeratotic plaques, primarily in flexural areas.

Observation:

• Linear epidermolytic hyperkeratosis (LEH) is an uncommon clinical variant of EI.
• LEH is characterized by the absence of erythroderma and blistering, which are hallmarks of classical EI.
• Linear lesions in LEH can manifest as localized or generalized, and unilateral or bilateral patterns.

Findings:

• This report details a 6-year-old girl diagnosed with unilateral epidermolytic ichthyosis.
• The patient's presentation deviated from the classical EI phenotype, emphasizing the characteristics of the linear variant.
• The unilateral nature of the lesions was a key distinguishing feature in this case.

Implications:

• This case underscores the phenotypic variability within epidermolytic ichthyosis.
• Recognizing uncommon variants like unilateral LEH is crucial for accurate diagnosis and management.
• Further research into the genetic and clinical spectrum of EI is warranted to improve patient outcomes.