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

• Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes
• Keratoderma Hereditarium Mutilans (KHM)
• Mutilating Keratoderma

What is Vohwinkel Syndrome? (Definition/Background Information)

• Vohwinkel Syndrome is an inherited condition that affects the skin
• People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss
• A "variant form" of Vohwinkel Syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss
• Classic Vohwinkel Syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene. Both are inherited in an autosomal dominant manner
• Although there is currently no cure for the condition, treatments are available to alleviate symptoms

(Source: Vohwinkel Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Vohwinkel Syndrome? (Age and Sex Distribution)

• Vohwinkel Syndrome is a rare congenital disorder. The presentation of symptoms may occur in infancy or childhood
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

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

• A positive family history may be an important risk factor, since Vohwinkel Syndrome can be inherited

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 Vohwinkel Syndrome? (Etiology)

• Classic Vohwinkel Syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene
• Both types of the disorder are inherited in an autosomal dominant manner

(Source: Vohwinkel Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

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%. 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 Vohwinkel Syndrome?

The signs and symptoms of Vohwinkel Syndrome may include:

Very frequently present symptoms in 80-99% of the cases:

• Amniotic constriction ring
• Auto-amputation of digits
• Honeycomb palmoplantar keratoderma
• Sensorineural hearing impairment

Frequently present symptoms in 30-79% of the cases:

• Cognitive impairment
• Hypogonadotrophic hypogonadism

Occasionally present symptoms in 5-29% of the cases:

• Abnormal toenail morphology
• Abnormality of the spinal cord
• Alopecia
• Ichthyosis
• Osteolysis
• Papule
• Self-injurious behavior

In addition to the above signs and symptoms, hearing impairment may be present in some affected individuals.

(Source: Vohwinkel Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Vohwinkel Syndrome Diagnosed?

Vohwinkel Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

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 Vohwinkel Syndrome?

The complications of Vohwinkel Syndrome may include:

• Deafness
• Low self-esteem due to cutaneous abnormalities

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Vohwinkel Syndrome Treated?

There is no cure for Vohwinkel Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Vohwinkel Syndrome be Prevented?

Vohwinkel Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy), if available, 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 and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Vohwinkel Syndrome? (Outcomes/Resolutions)

• The prognosis of Vohwinkel Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Vohwinkel Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/