Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review

Area of Science:

• Dermatology
• Genetics
• Orthopedics

Background:

• Foot deformities and skin lesions significantly impair daily activities and quality of life.
• Genodermatoses are often associated with substantial foot deformities, yet this topic is underreported.
• A lack of comprehensive data necessitates further investigation into the relationship between genetic skin disorders and foot abnormalities.

Purpose of the Study:

• To identify and characterize genodermatoses associated with foot disorders.
• To analyze the spectrum and severity of foot deformities in patients with various genodermatoses.
• To highlight the importance of early management for improving patient outcomes.

Main Methods:

• Retrospective chart review of 16 patients with genodermatoses and foot disorders.
• Clinical investigation of affected individuals.
• Molecular biology investigations to confirm diagnoses.

Main Results:

• Seven genodermatoses were identified: autosomal recessive congenital ichthyosis (ARCI), palmoplantar keratodermas (PPKs), ichthyosis follicularis, atrichia, and photophobia (IFAP), ectrodactyly-ectodermal dysplasia-clefting (EEC), and ichthyosis with confetti (IWC).
• Foot problems exhibited significant phenotypic heterogeneity, varying in severity based on the specific genodermatosis.
• The most pronounced deformities were observed in EEC (split foot) and IWC (contractures), while ARCI (clawed toes), IFAP (hollow feet), and PPK showed less severe manifestations.

Conclusions:

• A diverse range of genodermatoses are linked to foot abnormalities.
• Early rehabilitation and corrective interventions are essential for patients with genodermatoses affecting the feet.
• Timely management can improve gait, prevent irreversible complications, and enhance the quality of life for affected individuals.