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Palmoplantar keratoderma with deafness
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Palmoplantar keratoderma with deafness

Palmoplantar keratoderma with deafness is a rare genetic disorder characterized by the development of unusually thick skin on the palms and soles and progressive hearing loss.

Overview

Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound, typically beginning in early childhood and worsening over time, particularly affecting the ability to hear high-pitched sounds.

Causes

The disorder can be caused by mutations in the GJB2 or MT-TS1 genes:

  • GJB2 gene: This gene provides instructions for making the protein connexin 26. This protein forms gap junctions that transport ions and signaling molecules. Mutations disrupt these channels, affecting skin growth and the conversion of sound waves to electrical nerve impulses in the cochlea.
  • MT-TS1 gene: This gene provides instructions for a specific form of tRNA involved in mitochondrial function. Mutations lead to reduced production of proteins needed for oxidative phosphorylation, impairing the ability of mitochondria to make ATP, which affects cells in the inner ear and skin.

Inheritance

The inheritance pattern depends on the gene involved:

  • GJB2 mutations: Inherited in an autosomal dominant pattern, where one copy of the altered gene is sufficient to cause the disorder.
  • MT-TS1 mutations: Inherited in a mitochondrial (maternal) pattern. Because egg cells contribute mitochondria to the developing embryo, children can only inherit these mutations from their mother.

Frequently Asked Questions

Use daily emollients containing urea or salicylic acid after bathing, and apply a thick barrier ointment (e.g., petrolatum) at night. Gentle mechanical debridement with a pumice stone can be done after soaking, but avoid aggressive scraping. For severe hyperkeratosis, a dermatologist may prescribe topical keratolytics (e.g., 40 % urea cream) or low‑dose systemic retinoids under close monitoring.
Yes. Testing for GJB2 (autosomal dominant) or MT‑TS1 (mitochondrial) mutations clarifies risk. If a GJB2 variant is present, each child has a 50 % chance of inheriting the disorder. If the MT‑TS1 variant is present, only offspring of an affected mother are at risk, and all children of an affected father are unaffected. Genetic counseling can help you understand these probabilities.
Baseline audiology should be performed by age 2 years, with repeat testing every 1–2 years. If mild loss is detected, hearing aids calibrated for high‑frequency loss are first‑line. For progressive or moderate‑to‑severe loss, cochlear implantation may be considered in later childhood. Early intervention with speech therapy improves language outcomes.
Topical keratolytics (urea, salicylic acid) are the mainstay for skin. Systemic retinoids (acitretin, isotretinoin) can reduce hyperkeratosis but require monitoring for liver toxicity and lipid changes. No drug reliably halts the sensorineural hearing loss; however, antioxidants and mitochondrial supplements (e.g., coenzyme Q10) have been explored experimentally but lack strong evidence. Management focuses on hearing aids, cochlear implants, and protective ear strategies.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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