What is Vohwinkel Syndrome?
Vohwinkel syndrome, also known as hereditary palmoplantar keratoderma, is a type of inherited skin condition that affects the palms of the hands and the soles of the feet. This skin condition varies, it can be inherited (passed down from parents to their children) or acquired (not inherited) and can present itself in different ways.
This condition can either appear alone or be part of a syndrome that affects other parts of the body too. It’s also worth noting that in rare cases, the skin condition can be caused by certain medications or related to abnormal growths in the body (a condition referred to as paraneoplastic).
The typical symptoms of Vohwinkel syndrome include thick, rough skin on the palms and soles that looks like a “honeycomb,” rough skin that resembles “starfish” on the knuckles, hearing loss, and constricting bands of hardened skin around the fingers or toes. These bands can be so tight that they cut off the blood supply and cause the affected finger or toe to naturally amputate (known as pseudoainhum).
A different form of Vohwinkel syndrome, known as loricrin keratoderma, also features the “honeycomb” pattern of thick skin and constricting bands around the fingers or toes but includes an additional symptom of ichthyosis: a condition where the skin becomes dry and scale-like. Unlike classic Vohwinkel syndrome, loss of hearing is not typically present in loricrin keratoderma.
What Causes Vohwinkel Syndrome?
The classic Vohwinkel syndrome is a condition that can be passed on from parent to child, referred to as autosomal dominant inheritance. This syndrome happens because there’s a change, or a mutation, in a specific gene called gap junction beta 2 (GJB2). This gene is found on a particular part of a chromosome (which is kind of like a recipe book for your body) labelled as 13q11-12. This gene’s job is to make a protein known as connexin 26.
There’s a variant of Vohwinkel syndrome called loricrin keratoderma, which affects the skin differently. This one is caused by changes in another gene called LOR. This gene is located on a different part of a chromosome termed 1q21. The LOR gene is responsible for creating a protein named loricrin, which is a vital part of the envelope (or layer) of cells that harden and die to form a protective outer layer of skin.
When mutations occur in loricrin, it results in a condition called ichthyosis, which makes the skin appear dry and scaled like a fish. This leads to loricrin keratoderma looking different than classic Vohwinkel syndrome.
Worth noting is that in this variant, the mutation doesn’t affect the gap junction protein like it does in classic Vohwinkel syndrome, so hearing loss isn’t typically a symptom.
Risk Factors and Frequency for Vohwinkel Syndrome
The Vohwinkel syndrome is a very rare condition, with fewer than 50 cases reported so far. It’s interesting to note that it affects both boys and girls equally, typically appearing in infancy or early childhood.
Signs and Symptoms of Vohwinkel Syndrome
Vohwinkel syndrome is a condition that impacts the skin and hearing. It involves thickened skin on the palms and soles, sometimes described as a “honeycomb” pattern. This usually starts in early childhood. Patients may also have tough skin patches, like starfish, on the fingers, toes, and knees. Some might have similar patches on their elbows and knees.
A notable feature of Vohwinkel syndrome is bands of fibrous tissue, known as pseudoainhum, that wrap around the fingers and toes. They typically appear in late childhood or adulthood and might even lead to autoamputation of digits.
Most people with Vohwinkel syndrome experience high-frequency hearing loss. This usually doesn’t become noticeable until after infancy. Some affected individuals might also have scarring hair loss, though this isn’t a common feature.
For some people, a variant of Vohwinkel syndrome presents with mild, generalized dry and scaling skin, known as ichthyosis. The scaling is often most severe on the flexural surfaces, those areas of the body that can flex or bend.
Testing for Vohwinkel Syndrome
Vohwinkel syndrome is diagnosed largely through a physical check-up. A test called an audiometry is used to understand the type and severity of any hearing loss, and can also be used for future assessments. X-rays of the hands and feet can be taken to identify any irregularities in the bones. If required, tests can be carried out on the head and face based on what the doctor finds during the examination. While studying tissue under a microscope (histology) could be done, it often doesn’t provide specific signs of Vohwinkel syndrome. A genetic test can be done to identify any changes or anomalies in the genes.
Treatment Options for Vohwinkel Syndrome
Vohwinkel syndrome often results in rough, calloused-like lesions on the skin. These can be lessened using oral medications called retinoids, such as isotretinoin. Another common treatment method involves using a sharp blade to remove, or debride, the thick skin, followed by an application of a lotion or cream that contains urea, lactic acid, or salicylic acid. These ingredients help to further soften and remove the top layers of the skin.
One of the key features of Vohwinkel syndrome is the formation of tight bands around the fingers or toes, a condition known as pseudoainhum. Traditionally, these bands were surgically cut to provide relief. However, recent medical advances suggest that low doses of oral retinoids can be used to prevent and treat these constrictions, reducing the need for surgery or the risk of self-amputation. It’s important to note that discontinuing use of these retinoids often results in a return of the symptoms.
People with Vohwinkel syndrome can also experience hearing loss. Therefore, hearing tests are recommended. In some cases, cochlear implants can provide an effective solution to this issue.
Additionally, recent research has indicated that low doses of something called transforming growth factor β1 (TGF-β1) could play a key role in treating Vohwinkel syndrome. This finding could lead to new treatment options in the future.
What else can Vohwinkel Syndrome be?
When considering Vohwinkel syndrome, a condition characterized by palmoplantar keratoderma (PPK) and hearing loss, it’s important to rule out other similar conditions. These include:
- Bart-Pumphrey syndrome, which is a non-destructive type of PPK that also comes with hearing loss, knuckle pads and white spots on the nails. Unlike Vohwinkel syndrome, it doesn’t have starfish-shaped skin growths or a honeycomb pattern on the PPK.
Other conditions that need to be considered specifically for destructive PPK (the type that comes with digital constriction bands or autoamputation) include:
- Olmsted syndrome
- Papillon-Lefevre syndrome
- Loricrin keratoderma
- Mal de Meleda disease
For pseudoainhum, a condition where a constriction band forms around a digit and can lead to autoamputation, the differential diagnosis includes:
- Raynaud’s disease, scleroderma and diabetes, which are all vascular diseases
- Infections such as leprosy, late-stage syphilis and yaws
- Scar formation from ergot (a type of fungus) poisoning
What to expect with Vohwinkel Syndrome
Vohwinkel syndrome is a condition that, while serious, often has a good outcome and doesn’t generally affect the length of a person’s life. However, this can change based on several factors like how severe the condition is, how early it’s discovered, and how effectively it’s managed. This condition is ongoing and gets worse over time, but if noticed early and given thorough care, the long-term outlook can be improved significantly.
Vohwinkel syndrome can lead to skin problems such as hard, thick skin on the palms of hands and soles of the feet, and a condition called ‘pseudoainhum’ where it appears like a band is tightening around a finger or toe. These skin conditions can be managed with regular visits to a skin doctor, proper care of wounds, and using treatments on the skin. With this care, the function of hands and feet can be preserved.
Hearing loss is another common issue related to Vohwinkel syndrome. It’s often quite a challenge and may require a cochlear implant, which is a device that can improve hearing, to manage effectively.
Possible Complications When Diagnosed with Vohwinkel Syndrome
People with Vohwinkel syndrome may experience various complications, which include:
- Self-amputation of fingers or toes leading to difficulty in using their limbs
- Continuous thick skin formation
- Repeated skin infections
- Loss of hearing in traditional forms of the disease
- Squamous cell carcinoma, a type of skin cancer, has been reported in two persons with the syndrome
- Feeling of isolation from society
- Experiencing emotional distress
Preventing Vohwinkel Syndrome
Often, the best way to manage Vohwinkel Syndrome is to prevent it from getting worse and to avoid further complications. This typically involves taking steps ahead of time. For instance, those diagnosed with the syndrome should understand the value of taking care of their skin on a regular basis. This helps control the thickening of the skin, a common symptom of the syndrome. It’s also crucial to keep the skin well-hydrated to avoid cracks that could let in germs and cause infections.
There is also an emphasis on keeping a close eye on any changes in hearing, as the syndrome can impact this. Regularly checking in with a hearing specialist can help manage any impairment and prevent it from getting worse.
Being well-informed about the syndrome is a powerful tool for people with Vohwinkel Syndrome and their caregivers. It provides them the knowledge to make decisions that will help lessen the syndrome’s effects on their daily life. A crucial part of this education is understanding what the syndrome is and how it works, which may lead to an earlier diagnosis and, as a result, better treatment options. In turn, the earlier treatment may open up opportunities for groundbreaking therapies in the future.
Vohwinkel Syndrome is inherited, meaning it’s passed down from parents to their children through genes. If you have it, you should consider meeting with a genetics counselor. They can help you understand your risk of passing the syndrome to your future children.
