Symmetrical progressive erythro-keratoderma.

Area of Science:

• Dermatology
• Clinical Case Report
• Genetics

Background:

• Ichthyosis and related disorders represent a heterogeneous group of keratinization abnormalities.
• Palmoplantar keratoderma is a common feature in several ichthyosis subtypes.
• The genetic basis for many ichthyosis forms remains incompletely understood.

Purpose of the Study:

• To present a unique case of a pediatric patient with extensive hyperkeratotic plaques and palmoplantar keratoderma.
• To document unusual associated systemic findings in this patient.
• To contribute to the understanding of rare keratinization disorders.

Main Methods:

• Clinical examination of a 13-year-old male patient.
• Detailed dermatological assessment including plaque morphology and distribution.
• Documentation of associated physical anomalies.

Main Results:

• The patient presented with gradually progressive, bilateral, symmetrical, erythematous, hyperkeratotic plaques on the knees, elbows, natal cleft, and extremities.
• Significant palmoplantar keratoderma was observed.
• Unusual comorbidities included a high arched palate, fissured tongue, and pectus excavatum.

Conclusions:

• This case highlights a rare presentation of a keratinization disorder with distinct dermatological and systemic features.
• The combination of hyperkeratotic plaques, palmoplantar keratoderma, and craniofacial/thoracic anomalies suggests a potentially novel or extremely rare genodermatosis.
• Further investigation, including genetic analysis, is warranted to elucidate the underlying etiology.