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

• Brauer-Buschke-Fischer Syndrome
• Keratosis Palmoplantaris Papulose
• Type I Punctate Palmoplantar Keratoderma

What is Punctate Palmoplantar Keratoderma Type I? (Definition/Background Information)

• Punctate Palmoplantar Keratoderma Type I is an uncommon subtype of punctate palmoplantar keratoderma (PPK) and is caused by genetic abnormalities that may be inherited in an autosomal dominant manner. The condition manifests in late childhood or early adulthood, presenting numerous thickened skin bumps on the palms and soles that are worsened by daily activity (due to use of one’s hands and feet)
• Palmoplantar keratoderma (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 (with the appearance of tiny bumps)
• The skin signs and symptoms of Punctate Palmoplantar Keratoderma Type I are typically non-progressive; an involvement of other body systems or organs is not noted. However, there is a high risk for the development of malignancies during one’s lifetime. The treatment involves the use of moisturizers, skin softeners, and systemic medications. The prognosis of the condition is determined on a case-by-case basis

Who gets Punctate Palmoplantar Keratoderma Type I? (Age and Sex Distribution)

• Punctate Palmoplantar Keratoderma Type I is a congenital disorder. However, the condition is known to manifest when the child reaches adolescence, teenage, or even young adulthood (between ages 10 and 30 years)
• The condition affects both males and females
• It is seen worldwide, and all racial and ethnic groups may be affected

What are the Risk Factors for Punctate Palmoplantar Keratoderma Type I? (Predisposing Factors)

• The main risk factor for Punctate Palmoplantar Keratoderma Type I is 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 Punctate Palmoplantar Keratoderma Type I? (Etiology)

Punctate Palmoplantar Keratoderma Type I is caused by genetic abnormalities which are passed down through families in an autosomal dominant manner.

• However, according to medical literature, there is a “reduced penetrance” of the condition, meaning not all individual with the genetic anomaly will develop the characteristic skin signs and symptoms
• Punctate PPK Type I develops due to mutations involving the AAGAB gene that plays a role in maintaining skin integrity, thereby resulting in a disruption of its function

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 Punctate Palmoplantar Keratoderma Type I?

In general, the signs and symptoms associated with Punctate Palmoplantar Keratoderma Type I may include:

• The presence of abnormally-thickened skin (keratoderma) on the palms of the hands and soles of the feet
• The skin thickening is observed as abnormal, hard, small lumps (punctate keratoderma) on the palms and soles
• The pressure bearing surfaces with thickened skin bumps may fuse to form painful calluses
• The condition may be painful in some individuals, particularly keratoderma on the feet
• Normal activities that involve the use of one’s hands and feet may be severely affected; also, normal activities using one’s hands and feet may further worsen the condition
• Nail abnormalities may be observed in nearly 30% of the individuals
• Other systemic and skin signs and symptoms may be present

How is Punctate Palmoplantar Keratoderma Type I Diagnosed?

The diagnosis of Punctate Palmoplantar Keratoderma Type I 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 several questions related to the individual’s age, family medical history, current medications, cosmetics, body lotions used, other medical conditions, infections, etc.
• 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
• 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 Punctate Palmoplantar Keratoderma Type I?

The complications associated with Punctate Palmoplantar Keratoderma Type I may include:

• Emotional stress
• Cosmetic concerns
• Disruption of normal life and activities if the condition is severe
• Decreased quality of life
• Lack of treatment response
• Side effects of treatment

There is a high risk for the development of various cancers, such as breast cancer, colon cancer, lymphoma, kidney and urinary bladder cancer, and pancreatic cancer; in the affected individuals, the risk ranges from between 30-80%.

How is Punctate Palmoplantar Keratoderma Type I Treated?

There is no cure for Punctate Palmoplantar Keratoderma Type I. The condition is managed through symptomatic treatments, which may involve the following measures:

• Use of skin softening moisturizing creams and lotions
• Use of topical and systemic retinoids
• Administration of corticosteroids and keratolytics (medicine containing salicylic acid or urea)
• Surgical debridement for the removal of thickened skin
• CO2 laser therapy for affected areas of skin

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

How can Punctate Palmoplantar Keratoderma Type I be Prevented?

Currently, Punctate Palmoplantar Keratoderma Type I 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 Punctate Palmoplantar Keratoderma Type I? (Outcomes/Resolutions)

• The overall prognosis of Punctate Palmoplantar Keratoderma Type I may depend on a set of factors including:
  • Severity of the signs and symptoms
  • Response to therapy
  • Development of cancers if any
• Even though the skin condition (keratoderma) is benign, the overall prognosis can be only established on a case-by-case basis. However, since hereditary palmoplantar keratoderma is genetic, the disorder persists a lifetime

Additional and Relevant Useful Information for Punctate Palmoplantar Keratoderma Type I:

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.