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

• Keratoderma with Scleroatrophy of the Extremities
• Palmoplantar Hyperkeratosis-Sclerodactyly Syndrome
• Scleroatrophic and Keratotic Dermatosis of Limbs

What is Huriez Syndrome? (Definition/Background Information)

• Huriez Syndrome (HRZ) is an uncommon form of hereditary diffuse palmoplantar keratoderma that is transmitted in an autosomal dominant manner. The condition manifests during infancy or early childhood, and is characterized by underdevelopment of the nails, skin thickening of the palms and soles, and atrophic fibrosis of skin on the extremities. The disorder is associated with a high risk of early-onset malignancy (squamous cell carcinoma of skin)
• 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. It 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)
• A diagnosis of Huriez Syndrome can be made by clinical (skin) exam and various other diagnostic tools including dermoscopy and wood’s lamp examination. The treatment for skin symptoms involves the use of moisturizers, topical creams, and skin softeners. The prognosis of Huriez Syndrome is determined on a case-by-case basis. In case of formation of skin cancer, the overall prognosis depends on the stage of the cancer, among other factors

Who gets Huriez Syndrome? (Age and Sex Distribution)

• Huriez Syndrome is an extremely rare congenital disorder; the onset of signs and symptoms predominantly occur in infants and young children, which then gradually progresses with age
• The condition affects both males and females
• No racial or ethnic group preference is observed

What are the Risk Factors for Huriez Syndrome? (Predisposing Factors)

• The risk factor for Huriez 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 Huriez Syndrome? (Etiology)

• Huriez Syndrome is caused by genetic abnormalities that are passed down (through families) in an autosomal dominant pattern
• It is caused by heterozygous mutations involving the SMARCAD1 gene located on the long arm of chromosome 4 (4q) 

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 function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Each subsequent child has their own 50 % risk of getting the gene and the syndrome. 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 Huriez Syndrome?

In general, the signs and symptoms associated with Huriez Syndrome may vary widely from one individual to another and may include:

• Congenital scleroatrophy, skin scarring and fibrosis that occur in the limbs (extremities)
• Underdevelopment of nail (nail hypoplasia)
• 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
• A progressive worsening of the condition is noted from infancy to childhood
• Normal activities that involve the use of one’s hands and feet may be severely affected

How is Huriez Syndrome Diagnosed?

The diagnosis of Huriez 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
• Imaging studies, which may include CT and MRI scans
• 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 Huriez Syndrome?

The complications associated with Huriez Syndrome may include:

• Emotional stress
• Cosmetic concerns
• Secondary bacterial and fungal infections
• Disruption of normal life and activities if the condition is severe
• High risk for skin cancer development from the affected skin regions: It is reported that approximately 15% of the individuals develop aggressive squamous cell carcinoma between age 20 and 40 years. Following cancer development, early metastasis (spread) is frequently noted
• Lack of treatment response
• Treatment complications and medication side effects

How is Huriez Syndrome Treated?

There is no cure for Huriez 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
• Phototherapy
• Surgical debridement (removal of thickened skin), if required
• In case of skin cancer development, the healthcare may treat the same using surgery, chemotherapy, and radiation therapy, based on evaluation of the cancer

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

How can Huriez Syndrome be Prevented?

Currently, Huriez 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 Huriez Syndrome? (Outcomes/Resolutions)

• The prognosis of Huriez Syndrome may vary from one individual to another and is dependent on the severity of the condition
• In case of skin cancer development, the prognosis primarily depends on the stage of cancer and other parameters

Additional and Relevant Useful Information for Huriez 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.