A distinct type of palmoplantar keratoderma

Area of Science:

• Dermatology
• Genetics
• Ophthalmology

Background:

• Palmoplantar keratodermas (PPK) encompass a heterogeneous group of genetic and acquired disorders.
• These conditions are characterized by abnormal thickening of the skin on the palms and soles.

Observation:

• A pediatric case presented with distinct clinical manifestations beyond typical PPK.
• Observed features included hyperkeratotic, grayish-blue lesions on the lips and perioral region.
• Ocular involvement manifested as opacities in the lower corneas.
• Significant physical findings included mutilation of the right auricle and additional widespread skin lesions.

Findings:

• The patient exhibited a complex phenotype associated with palmoplantar keratoderma.
• The presentation included unusual ectodermal and mucosal findings.
• The constellation of symptoms suggests a rare or novel subtype of PPK or a related genodermatosis.

Implications:

• This case highlights the phenotypic variability within palmoplantar keratoderma spectrum disorders.
• Further investigation is warranted to determine the underlying genetic etiology.
• Accurate diagnosis is crucial for appropriate management and genetic counseling.