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Bart-Pumphrey syndrome

Bart-Pumphrey syndrome 



Overview

Bart-Pumphrey syndrome is a rare autosomal dominant genetic disorder characterized by the triad of knuckle pads, leukonychia (white nails), and sensorineural hearing loss, often accompanied by palmoplantar keratoderma (thickened skin on palms/soles). Caused by mutations in the GJB2 gene, it primarily affects skin and hearing from childhood.

Symptoms

Knuckle Pads: Wart-like, hyperkeratotic (thickened) plaques over the interphalangeal joints of the fingers and toes. These are often the most common finding. 

Hearing Loss: Sensorineural hearing loss is nearly always present and ranges from moderate to profound, generally occurring from birth.

Leukonychia: White discoloration of the nails, which may be total (whole nail) or partial, sometimes accompanied by brittle or thickened nails.

Palmoplantar Keratoderma: Diffuse thickening of the skin on the palms of the hands and soles of the feet.

Causes

Gene Mutation: Mutations in GJB2 (gap junction beta 2) lead to abnormal functioning of the connexin 26 protein.

Protein Role: Connexin 26 is crucial for forming gap junctions that transport nutrients and signaling molecules between cells, particularly in the inner ear (cochlea) and skin (epidermis).

Disease Mechanism: The mutation disrupts the regulation of potassium ions in the cochlea, leading to hearing loss, and disrupts normal skin maturation, leading to palmoplantar keratoderma and knuckle pads.

Inheritance: As an autosomal dominant condition, an affected individual typically has a 50% chance of passing the mutation to their children.

Diagnosis

Diagnosis is based on identifying a specific triad of symptoms, which usually become evident in childhood:

Knuckle Pads: Thickened, wart-like (verrucous) skin on the knuckle joints (fingers and toes).

Leukonychia: White discoloration of the nails, which may be thick and crumbly.

Hearing Loss: Sensorineural deafness, often present from birth, ranging from moderate to profound.

Palmoplantar Keratoderma: Thickening of the skin on the palms and soles.

Treatment

Skin and Nail Management:

Oral Retinoids: Medications such as isotretinoin are used to treat palmoplantar keratoderma (thickening of skin on palms and soles) and reduce knuckle pads.

Keratolytic Agents: Creams containing urea, salicylic acid, or lactic acid are applied to hyperkeratotic skin (calluses).Moisturizers: Regular application of emollients helps reduce discomfort.

Steroid Injections: Sometimes used to shrink knuckle pads

Surgery:  Rarely needed, but possible for severe knuckle pads.

Hearing Loss Management:

Hearing Aids: Used to manage sensorineural hearing loss from birth.

Cochlear Implants: Recommended for profound hearing impairment.

Speech Therapy & Education: Essential for children with congenital hearing loss.

Monitoring: Regular dermatological and audiometric evaluations are recommended.

Type of Doctor Department : A dermatologist, an otolaryngologist , audiologist

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