US/World

8-Year-Old ‘Fish Boy,’ Pan Xianhang, Suffers From Rare Inherited Skin Disease

Pan Xianhang
An eight-year-old child is called 'fish boy' by his neighbors in the coastal province of China; he suffers from a rare, inherited skin disease. Sun Jianbiao, Images China

An eight-year-old Chinese child is called "fish boy" by his neighbors in the coastal province of Wenling, Eastern China. As reported in Huffington Post, the child suffers from a severe case of ichthyosis, a rare and inherited skin disease that is, as yet, incurable.

According to the Foundation for Icthyosis and Related Skin Types (FIRST), "the ichthyoses (plural) are a family of genetic diseases characterized by dry, thickened, scaling skin." The incidence of this painful condition is somewhere between one in 250 and one in 5,000, or about 16,000 babies born with this condition each year, though symptoms are not always seen at birth. "Ichthy" is taken from the Greek and is the root word for "fish." The scales often present in early childhood and appear "polygonal, flat, and whitish," according to FIRST; they may be darker on distal extremities with accentuated markings on palms and soles, though the face and flexural (joint) areas are usually spared.

Unfortunately, in Pan's case, the disease has touched his face as well as constricted the movements of his limbs. According to Examiner.com, it also affects his ability to sweat, "causing him to 'overheat.' He is also always at risk from secondary skin infections which could lead to systemic infections if not treated properly." Reportedly, the child cannot sleep properly, due to the constant itching and pain.

Misdiagnosis

In the U.S. a study published in the September 2012 issue of Archives of Dermatology found that the incidence of ichthyosis remained steady over the period 2001 to 2010 and the incidence is higher among boys than girls. The study, though, warns that actual incidence of ichthyosis may be higher as the number of babies with milder forms of ichthyosis are not always included in the calculations due to misdiagnosis or confusion about the condition.

According to FIRST, the disorder is caused by a genetic mutation. In very rare cases, the genetic mutation occurs spontaneously without an inherited link. Even though parents may be carriers of the disorder, they do not always exhibit symptoms themselves even if they are capable of passing on the gene to their child. A child will only inherit the disorder if both parents are carriers and both pass on the gene. Milder forms of the skin disorder include X-linked ichthyosis, which may be present at birth though often it is not noticed for years. Most children who inherit the milder forms usually are born with normal appearing skin that develops roughness during the first few years of life, according to Mayo Clinic.

In some rare cases, when genetic abnormalities are not the cause of ichthyosis, a person may develop what is known as 'acquired ichthyosis' in adulthood. In such cases, the disorder is associated with other diseases, including cancer and thyroid disease.

 

Source: Milstone LM, Miller K, Haberman M, Dickens J. Incidence of Moderate to Severe Ichthyosis in the United States. Archives of Dermatology. 2012.

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