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

• Mitochondrial Palmoplantar Keratoderma with Hearing Impairment
• Palmoplantar Keratoderma and Sensorineural Deafness
• Palmoplantar Keratoderma-Hearing Loss Syndrome

What is Palmoplantar Keratoderma with Deafness? (Definition/Background Information)

• Palmoplantar Keratoderma with Deafness is an extremely rare form of hereditary diffuse/focal palmoplantar keratoderma. The condition manifests during early childhood/infancy, and is characterized by skin thickening of the palms and soles and sensorineural hearing loss
• Hereditary palmoplantar keratoderma (PPK) is a type of PPK caused by genetic mutations. Palmoplantar keratoderma 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 (with the appearance of tiny bumps)
• The skin signs and symptoms of Palmoplantar Keratoderma with Deafness are typically progressive; an involvement of other body systems or organs is not noted. The treatment involves the use of moisturizers, skin softeners, systemic medications, and hearing aids for deafness. The prognosis varies from one individual to another and is dependent upon a set of several factors

Who gets Palmoplantar Keratoderma with Deafness? (Age and Sex Distribution)

• Palmoplantar Keratoderma with Deafness is a highly uncommon congenital disorder. Currently, only a handful of cases have been recorded in the medical literature
• The signs and symptoms of the condition are predominantly noted in young children
• The condition affects both males and females
• Presently, no racial or ethnic group preference is noted

What are the Risk Factors for Palmoplantar Keratoderma with Deafness? (Predisposing Factors)

• The main risk factor for Palmoplantar Keratoderma with Deafness includes a positive family history of the condition
• Children born to consanguineous partners or spouses 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 Palmoplantar Keratoderma with Deafness? (Etiology)

Palmoplantar Keratoderma with Deafness is caused by genetic abnormalities which may passed down through families in an autosomal dominant or mitochondrial pattern.

• When transmitted in an autosomal dominant manner, mutations on the GJB2 gene are noted
• When transmitted in a mitochondrial pattern (maternal inheritance), mutations on the MT-TS1 gene is noted; children inherit the abnormality from their mothers

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 Palmoplantar Keratoderma with Deafness?

In general, the signs and symptoms associated with Palmoplantar Keratoderma with Deafness may vary widely between individuals, and include:

• Abnormally-thickened skin (keratoderma) on the palms and soles that may involve the entire palm and sole (diffused), or be localized to certain regions; the fingers and toes are usually involved
• The pressure-bearing regions of hands and feet are usually affected
• Onset of hearing impairment (sensorineural hearing loss) may occur in early childhood or even later; however, following onset, the condition progresses and becomes severe. Children are usually unable to hear high-pitched sounds
• Normal activities that involve the use of one’s hands and feet may be affected
• No other body organs or systems are known to be affected

It is observed that some children develop only skin/hearing abnormalities, while some develop both.

How is Palmoplantar Keratoderma with Deafness Diagnosed?

The diagnosis of Palmoplantar Keratoderma with Deafness 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
• Testing related to hearing loss may include:
  • 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 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 Palmoplantar Keratoderma with Deafness?

The complications associated with Palmoplantar Keratoderma with Deafness are usually not very significant than other PPK forms since it is a non-progressive condition. The complications 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, in some cases
• Lack of treatment response and treatment complications

How is Palmoplantar Keratoderma with Deafness Treated?

There is no cure for Palmoplantar Keratoderma with Deafness, 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 (topical medicine containing salicylic acid or urea)
• Vitamin D supplementation
• Phototherapy
• Surgical debridement (removal of thickened skin), if required
• Hearing impairment may be treated via the use of hearing aids and cochlear implants, if needed

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

How can Palmoplantar Keratoderma with Deafness be Prevented?

Currently, Palmoplantar Keratoderma with Deafness 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 Palmoplantar Keratoderma with Deafness? (Outcomes/Resolutions)

The prognosis of Palmoplantar Keratoderma with Deafness is dependent upon the severity of the signs and symptoms, associated complications, and one’s response to treatment.

Additional and Relevant Useful Information for Palmoplantar Keratoderma with Deafness:

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.