Teenager loses fingers and toes to uncommon disease

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Nguyen Hoang Gia Bao, 18, at Cho Ray Hospital in Ho Chi Minh City on August 29, 2013. Bao, the first recorded victim of Vohwinkel syndrome in Vietnam, lost all his fingers and toes to the rare disease. Photo by Ha Minh

Nguyen Hoang Gia Bao, 18, of Ho Chi Minh City is Vietnam's first recorded victim of Vohwinkel syndrome, a rare disease that ate away his fingers and toes by the time he was 10.

Bao, a resident of Thu Duc District, also has starfish-shaped patches of thickened skin on his arms and legs and thick, honeycomb-like calluses on the palms of his hands and the soles of his feet; as well as patches of infected skin.

After 24 days of treatment, he was discharged from Cho Ray Hospital's Hematology Department on September 6, Suzanne Thanh Thanh, deputy head of the department told Vietweek on Monday.

According to Thanh, Bao's health has stabilized and the itching and peeling from the calluses on his hands and feet have been reduced with a medication called acitretin. Bao confirmed his improvement to online newspaper Dan Tri on August 30, after just two days of treatment.

He will continue taking acitretin at home and once he is done with the treatment, he will undergo orthopedic surgery to give him prosthetic fingers and toes, Thanh said.

A lifetime of pain

T.T.L.H., 55, the younger sister of Bao's grandmother, said he started developing calluses when he was less than two months old. He was brought to different hospitals for treatment, but doctors failed to identify his disease and his family had difficulty paying for further visits because they were poor.

H. said his fingers and toes became constricted by annular bands, which caused his knuckles to gradually deteriorate until they were gone.

After eight years living without fingers and toes, Bao's left leg became swollen more than a month ago, at which point his family borrowed VND20 million (US$940) in order to have him treated at the HCMC Hospital of Dermatology and Venereology, she said.

Doctor Thanh from Cho Ray Hospital's hematology department said Bao was transferred from HCMC Hospital of Dermatology and Venereology to her department on August 13 for treatment of anemia and thrombocytopenia (a decrease of platelets in blood).

About two weeks later, Dr. Hoang Van Minh, a dermatology and venereology expert, diagnosed Bao as having Vohwinkel syndrome.

H., Bao's relative, said no one else in Bao's family has the disease, and that his living environment is normal.

Speaking to Lao Dong (Labor) newspaper, Bao said he wished he had not lost his fingers and toes because he wants to be a driver.

"Many times in my dreams, I saw myself with prosthetic arms and legs that enabled me to eat and go to the toilet on my own.

"I know my dream is a long shot, but I believe I will achieve it," he said, adding that he does not want to be a burden to his family.

Incredibly rare disease

Minh, a doctor at HCMC Medicine and Pharmacy University Hospital, said Vohwinkel syndrome is caused by genetic mutation and those who have it start manifesting symptoms during infancy or early in childhood. However, the cause of mutation is unknown, he said.

He said it is not caused by one's surrounding environment or water.

According to Minh, the syndrome was first discovered in 1929 by the German doctor after whom it was named. Only around 50 people have been confirmed to have contracted it worldwide and the disease occurs most often among Caucasian women.

The syndrome has two forms. The classic form, which is caused by mutations to the GJB2 (gap junction beta-2) gene, can include hearing loss.

He said Bao's symptoms on his arms and legs are typical of Vohwinkel.

Thanh and Minh said acitretin helps reduce Bao's itching and peeling of the outer skin, as well as reduce the thickness of the calluses and stop the swelling.

WHAT IS VOHWINKEL SYNDROME?

Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.

In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected children also typically have distinctive starfish-shaped patches of thickened skin on the tops of the fingers and toes or on the knees. Within a few years they develop tight bands of abnormal fibrous tissue around their fingers and toes (pseudoainhum); the bands may cut off the circulation to the digits and result in spontaneous amputation. People with the classic form of the disorder also have hearing loss.

The variant form of Vohwinkel syndrome does not involve hearing loss, and the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be mild reddening of the skin (erythroderma). Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life.

HOW COMMON IS VOHWINKEL SYNDROME?

Vohwinkel syndrome is a rare disorder; about 50 cases have been reported in the medical literature.

HOW DO PEOPLE INHERIT VOHWINKEL SYNDROME?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

(SOURCE: GENETICS HOME REFERENCE) 

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