Ito Syndrome (Incontinentia Pigementi Achromians)

Written by Natalie Phillips | Published on July 17, 2012
Medically Reviewed by George Krucik, MD

What Is Ito Syndrome?

Ito syndrome (IS) is a rare condition that researchers believe is caused by genetic irregularities. The condition is not inherited, however, and a family history of IS is rare.

IS is characterized by loss of skin color on certain parts of the body. The skin may appear patchy, streaky, or have a “whorled” appearance. Other symptoms associated with IS include seizures, deafness, and mental retardation.

IS is a neurocutaneous syndrome—a disorder of the central nervous system and skin. According to the National Organization for Rare Disorders (NORD), some researchers believe that IS is a symptom of other diseases, rather than a disease itself. (NORD).

IS is also commonly called hypomelanosis of Ito or Ito hypomelanosis. It used to be called incontinentia pigmenti achromians.

What Causes Ito Syndrome?

IS may be caused by irregular genes, though the chromosomal defect occurs after conception. In many cases, the genetic irregularity is found in some cells but not in others (mosaicism). According to the New Zealand Dermatological Society (NZDSI), the exact gene (or genes) that cause IS has not yet been identified. (NZDSI).

According to Medscape (MS), IS is one and a half to two and a half times more common in women than in men. It does not seem to be more common in any particular race. The condition is present at birth.(MS).

What Are the Symptoms of IS?

Symptoms of IS vary widely. Symptoms affecting the skin include:

  • loss of pigment (color) on various parts of the body. These areas are often streaky and may have a spiral appearance. These areas are flat: they are not raised or textured. They don’t usually occur on the palms, scalp, or soles of the feet.
  • small lesions that are white or colorless. Lesions may grow over time to form large, uneven patches.
  • Blaschko’s lines (long, spiraling patterns around the mid section and lines on the arms and legs)

According to NZDSI, recent research suggests that other, more serious abnormalities are present in about 30 to 50 percent of IS patients with skin lesions. Other research suggests a percentage as high as 75 to 94 percent.(NZDSI).

These serious abnormalities include:

  • seizures, often due to refractory epilepsy (a seizure disorder that resists drug treatment)
  • mental retardation
  • trouble hearing or deafness
  • language disability
  • scoliosis (abnormal curving of the spine)
  • problems with the teeth or mouth, such as cleft palate
  • kidney disease
  • vision impairment
  • orthopedic(muscle and skeletal system) problems, such as one leg that is longer than the other
  • hair, tooth, and nail irregularities, such as balding and missing or abnormally shaped teeth or nails
  • brain tumors (rare)

How Is IS Diagnosed?

According to Medscape, about 75 percent of patients with IS are examined for the condition within their first two years of life. (MS).

A diagnosis is often made by a specialist, such as a

  • dermatologist (skin doctor)
  • pediatrician(children’s doctor)
  • neurologist(nervous system doctor)

The doctor will ask for a complete medical history and will perform a physical examination. Genetic or chromosomal testing may be done. Other tests may be ordered based on your specific symptoms. For example, if you have vision difficulties, your doctor may request an eye exam.

What Is the Treatment for IS?

According to the Online Journal of Dermatology (OJD), treatment for IS is limited to the treatment of symptoms. (OJD)

It is not necessary to treat the cutaneous(skin related) effects of IS. The skin may develop color over time, and the abnormalities may become less noticeable. Makeup can be used to help the affected skin blend in with normal skin.

More serious abnormalities associated with IS vary widely. They should be treated following the guidance of your health care provider.

What Is the Outlook for IS?

The skin effects of IS may cause the patient to feel self-conscious, but they are not harmful. The pigment in the skin often darkens over time. Associated symptoms should be treated by a specialist. Death is rare, but can occur if severe associated symptoms, such as seizures, are not treated.

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