What are the other Names for this Condition? (Also known as/Synonyms)

• BAPS (Bart-Pumphrey Syndrome)
• Knuckle Pads, Deafness, and Leukonychia Syndrome
• Knuckle Pads, Leukonychia, and Sensorineural Deafness

What is Bart-Pumphrey Syndrome? (Definition/Background Information)

• Bart-Pumphrey Syndrome (BAPS) is an uncommon form of hereditary diffuse palmoplantar keratoderma that is transmitted in an autosomal dominant manner. The condition manifests during infancy, and is characterized by skin thickening, prominent knuckle pads, nail abnormalities, and hearing impairment. Hence, it is also known as Knuckle Pads, Deafness, and Leukonychia Syndrome
• Hereditary diffuse palmoplantar keratoderma is a type of palmoplantar keratoderma (PPK) caused by genetic mutations. PPK is a benign skin condition, wherein there is thickening of skin (keratoderma) of the palms and/or soles. PPK is considered to be a pattern of skin findings and not a condition in itself. The abnormal skin thickening can be focal (localized), widespread (diffused), or punctate type (appearing as tiny bumps)
• The skin and hearing signs and symptoms of Bart-Pumphrey Syndrome are typically progressive. The treatment involves the use of hearing aids, moisturizers, skin softeners, and systemic medications. The prognosis varies from one individual to another and is dependent upon a set of several factors

Who gets Bart-Pumphrey Syndrome? (Age and Sex Distribution)

• Bart-Pumphrey Syndrome is an extremely rare congenital disorder; the onset of signs and symptoms predominantly occur in infants, which then gradually progresses as the child grows older
• The condition affects both males and females
• No racial or ethnic group preference is observed

What are the Risk Factors for Bart-Pumphrey Syndrome? (Predisposing Factors)

• The risk factor for Bart-Pumphrey Syndrome includes a positive family history of the condition
• Children born to consanguineous partners or spouses may have a high risk for the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Bart-Pumphrey Syndrome? (Etiology)

• Bart-Pumphrey Syndrome is caused by genetic abnormalities which are passed down (through families) in an autosomal dominant pattern
• It is caused by mutations involving the GJB2 gene that results in protein abnormalities and dysfunction affecting skin growth and hearing 

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly functioning gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition, or pass it on to their offspring.

What are the Signs and Symptoms of Bart-Pumphrey Syndrome?

In general, the signs and symptoms associated with Bart-Pumphrey Syndrome may vary widely from one individual to another. It may include:

• Presence of whitish discoloration on nails (leukonychia)
• The nails may then thicken, crumble, and may fall off
• Abnormally-thickened skin on the palms and soles; the skin thickening involves the entire palm and sole (diffused); the fingers and toes are usually affected
• Wart-like skin growths may form on the knuckles (termed knuckle pads) and toes
• A progressive worsening of the condition is noted from infancy to childhood
• Onset of hearing impairment (sensorineural hearing loss) may occur in infancy or early childhood; however, following onset, the condition progresses and becomes severe
• Normal activities that involve the use of one’s hands and feet may be severely affected

How is Bart-Pumphrey Syndrome Diagnosed?

The diagnosis of Bart-Pumphrey Syndrome may involve:

• A complete evaluation of medical history along with a thorough examination of the skin lesions by a dermatologist
• The healthcare provider may also ask many questions related to the individual’s age, family medical history, current medications, cosmetics, body lotions used, other medical conditions, infections, etc.
• Blood tests that may include complete blood count (CBC) test, basic metabolic panel, and liver function test (LFT)
• Dermoscopy: It is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
• Otoscopy: Examination using an instrument that allows the physician to look inside the ear
• Weber test: A test in which a vibrating tuning fork is placed on the midline of the head
• Rinne test: A test in which a vibrating tuning fork is held next to the ear and then in front of the ear, until the individual no longer hears the sound
• Audiometric test: Hearing tests that involve listening to different tones
• Tympanometry: A test that puts air pressure in the ear canal in order to move the eardrum, and then measures the eardrum mobility (movement)
• Acoustic reflex: A test that stimulates the stapedius (a tiny ear muscle) to move, in response to a loud sound
• Molecular genetic testing to identify the gene involved
• Skin biopsy: A skin tissue biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Bart-Pumphrey Syndrome?

The complications associated with Bart-Pumphrey Syndrome may include:

• Emotional stress
• Cosmetic concerns
• Secondary bacterial and fungal infections
• Disruption of normal life and activities if the condition is severe
• Total hearing loss
• Lack of treatment response and treatment complications

How is Bart-Pumphrey Syndrome Treated?

There is no cure for Bart-Pumphrey Syndrome, and the condition is managed through supportive and symptomatic treatment that may involve the following measures:

• Use of moisturizing creams and lotions
• Use of oral medication and systemic retinoids
• Administration of keratolytics (medicine containing salicylic acid or urea)
• Vitamin D supplementation
• PUVA photochemotherapy
• Surgical debridement (removal of thickened skin), if required
• Hearing impairment may be treated using hearing aids and cochlear implants, if needed

Regular follow up visits with the healthcare provider is important and recommended.

How can Bart-Pumphrey Syndrome be Prevented?

Currently, Bart-Pumphrey Syndrome is a genetic disorder that cannot be prevented. However, the following may be considered:

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited genetic disorders such as hereditary palmoplantar keratoderma

What is the Prognosis of Bart-Pumphrey Syndrome? (Outcomes/Resolutions)

• The prognosis of Bart-Pumphrey Syndrome is dependent upon the severity of the signs and symptoms, associated complications, and treatment response
• The skin and nail abnormalities may improve with age. However, in most individuals, deafness may not be preventable

Additional and Relevant Useful Information for Bart-Pumphrey Syndrome:

Cleaning the skin too hard with strong chemicals or soaps may aggravate the skin condition. Care must be taken avoid strong soaps and chemicals that could potentially worsen the condition.