Bart–Pumphrey syndrome

Overview

Bart–Pumphrey syndrome is a rare hereditary disorder characterized by a combination of skin, nail, and hearing abnormalities. The hallmark features include palmoplantar keratoderma(thickened skin on the palms and soles),leukonychia(white nails),knuckle pads, and sensorineural hearing loss. First described by Bart and Pumphrey in the 1960s, the condition is inherited in an autosomal dominant pattern. Despite the distinct clinical features, severity can vary significantly between individuals, even within the same family.

Causes

Bart–Pumphrey syndrome is caused by mutations in the GJB2 gene, which encodes connexin 26, a protein involved in cell communication through gap junctions. This gene plays a critical role in the development and function of the skin and inner ear.

• Mutation in the GJB2 gene – commonly associated with skin disorders and hereditary deafness

• Autosomal dominant inheritance – one copy of the altered gene is sufficient to cause the disorder

Symptoms

The syndrome presents with a distinctive combination of dermatologic and auditory features:

• Leukonychia – white discoloration of all fingernails and toenails, often present from birth

• Palmoplantar keratoderma – thickened, sometimes painful skin on the palms of the hands and soles of the feet

• Knuckle pads – firm, thickened areas of skin over the finger joints

• Sensorineural hearing loss – typically congenital and non-progressive, affecting both ears

Symptoms may vary in severity, and not all individuals present with all four hallmark features.

Diagnosis

Diagnosis of Bart–Pumphrey syndrome is based on clinical findings and confirmed through genetic testing:

• Physical examination – to assess skin, nails, and presence of knuckle pads

• Hearing tests (audiometry) – to evaluate the extent of sensorineural hearing loss

• Genetic testing – to detect mutations in the GJB2 gene

• Family history – often reveals similarly affected relatives

Treatment

There is no cure for Bart–Pumphrey syndrome. Treatment focuses on managing symptoms and improving quality of life:

• Dermatologic treatments – emollients, keratolytics, or topical retinoids for palmoplantar keratoderma

• Protective measures – to reduce friction and prevent pain in thickened skin areas

• Hearing aids or cochlear implants – for individuals with significant hearing impairment

• Genetic counseling – for affected families considering future pregnancies

Prognosis

The long-term outlook for individuals with Bart–Pumphrey syndrome is generally good:

• Life expectancy is normal

• Skin symptoms can be managed with topical treatments and lifestyle adjustments

• Hearing impairment can be significantly improved with assistive hearing devices

• Early diagnosis and supportive care lead to good functional outcomes