Hypomelanosis of Ito Prevention and Treatment

treatment

General: There is no cure for hypomelanosis of Ito (HI) syndrome. Instead, treatment aims to relieve symptoms and prevent complications. There are no available treatments for the absence of pigment in the skin. Patients may choose to wear makeup to cover colorless spots. Patients with HI may consult with neurologists, psychiatrists, orthopedists, dentists, and ophthalmologists depending of the presence and severity of symptoms.
Depending on the level of intellectual and developmental disabilities, some patients may be able to live independently once they reach adulthood, while others may need lifelong support and residential care. Adults with profound intellectual disabilities usually require lifelong nursing care.
Behavioral therapy: Behavioral therapy may also be beneficial. Several different types of behavioral therapy are available to help patients improve their communication and social skills and maximize their learning abilities and adaptive behaviors. Evidence suggests that behavioral therapy is most effective when it is started early in life (3-4 years of age or younger).
Dental care: Patients with HI require regular dental care, including brushing teeth after meals or at least twice daily. Patients with HI should have regular follow-up visits with a dentist. Orthodontic treatment may be recommended to help straighten the teeth if they are not aligned properly.
Drug therapy: Based on the severity of symptoms, a clinician may choose to use drug therapy to control the seizures seen in HI-related epilepsy.
Education: By law, patients with HI must have access to education that is tailored to their specific strengths and weaknesses. According to the Individuals with Disabilities Education Act, all children with disabilities must receive free and appropriate education. According to the law, staff members of the patient's school should consult with the patient's parents or caregivers to design and write an individualized education plan. The school faculty must document the child's progress in order to ensure that the child's needs are being met.
Educational programs vary among patients. In general, most experts believe that children with disabilities should be educated alongside their nondisabled peers. The idea is that nondisabled students will help the patient learn appropriate behavioral, social, and language skills. Therefore, some patients with intellectual disabilities are educated in mainstream classrooms. Others attend public schools but take special education classes, and still others attend specialized schools that are equipped to teach children with disabilities.
Eye care: Vision loss may be improved with corrective lenses, drugs, or even surgery in severe cases. Patients should be seen by an ophthalmologist as soon as possible following birth, monthly until three to four months of age, every three months until one year of age, twice yearly until three years of age, and yearly thereafter.
Neurological: Patients with HI who have seizures, muscle spasms, or paralysis may be treated with drugs and medical devices. If neurological symptoms such as seizures are present, patients should have regular follow-up visits with a neurologist.
Occupational therapy: Patients may benefit from occupational therapy. During sessions, a therapist helps the child learn skills needed to perform basic daily tasks, such as eating, dressing, and communicating with others. Parents and caregivers can ask their child's pediatrician for recommended therapists.
Speech-language therapy: Some patients with HI may benefit from speech-language therapy because they often develop communication skills more slowly than normal. During speech-language therapy, a qualified speech-language professional (SLP) works with the patient on a one-to-one basis, in a small group, or in a classroom to help the patient improve speech, language, and communication skills. Programs are tailored to the patient's individual needs.
Speech pathologists use a variety of exercises to improve the patient's communication skills. Exercises typically start simple and become more complex as therapy continues. For instance, the therapist may ask the patient to name objects, tell stories, or explain the purpose of an object.
On average, patients receive five or more hours of therapy per week for three months to several years. Doctors typically recommend that treatment be started early to ensure the best possible outcome for the child.

integrative therapies

Currently there is a lack of scientific evidence on the use of integrative therapies for the treatment or prevention of hypomelanosis of Ito (HI) syndrome.

prevention

General: Although hypomelanosis of Ito (HI) syndrome is thought to be a genetic condition, there is a lack of evidence to support spontaneous mutation. Some researchers suggest that the abnormalities causing HI may occur after fertilization and for unknown reasons. However, research in this area is conflicting. A familial form of HI exists, but fewer than 3% of patients have a family history of HI-type skin lesions.
Genetic testing and counseling: Individuals who have HI may meet with a genetic counselor to discuss the risks of having children with the disease.