What are the symptoms? Associated problems are thought to occur in approximately 70 per cent of patients with the distinct skin markings. These include: neurological problems: – learning difficulties (see entry Learning Disability) – seizures – hemimegalencephaly (enlarged brain on one side) visual problems (see entry Vision disorders in Childhood): – retinal pigment abnormalities – myopia (nearsightedness) – night blindness – detached retina orthopaedic problems: – scoliosis – hemihypertrophy (asymmetry of growth on either side of the body) precocious puberty (see entry Premature Sexual Maturation) heart abnormalities (see entry Heart Defects). What are the causes? It is thought the condition occurs due to a change in DNA or chromosomes after the sperm fertilises the egg (a process known as conception). How is it diagnosed? Hypomelanosis of Ito is present at birth and is usually picked up by a dermatologist, paediatrician or neurologist during the first year of life. Thorough history taking and physical examination with attention to neurological and ophthalmological (eye) problems is necessary to detect any problems. When a sample of skin cells from a person affected are grown in the laboratory, an abnormal chromosome pattern is found in about one third of affected individuals. How is it treated? The skin effects of hypomelanosis of Ito do not require treatment. In many cases, the skin may develop pigment (colour) over time and blend in well with normal skin. Skin camouflage creams may be used if children are conscious of their appearance. Neurological problems, orthopaedic problems and ophthalmological problems will need monitoring by the appropriate specialists and treatment given if necessary. Anti-convulsant medication may be required to control seizures. The appropriate social and educational support will need to be put in place for children with a learning disability. Inheritance patterns and prenatal diagnosis Inheritance patternsThis is not an inherited disorder, since the error occurs after conception in one population of cells. Prenatal diagnosisThis condition is not recurrent (occurring again). Management of future pregnancies should be in families should follow routine guidelines, although detailed ultrasound scanning may provide added reassurance. Is there support? HITS Worldwide Family Support Group Tel: 07940 114943 (National Contact)Email: [email protected]Website: www.hitsfamilysupportnetwork.notion.siteFacebook: https://www.facebook.com/groups Supporting families affected by the Hypomelanosis of Ito syndrome since 1985, offering support via a Facebook group, email and newsletters. Also offering links to other similarly affected families, where possible. Group details last updated April 2025.
What are the symptoms? Associated problems are thought to occur in approximately 70 per cent of patients with the distinct skin markings. These include: neurological problems: – learning difficulties (see entry Learning Disability) – seizures – hemimegalencephaly (enlarged brain on one side) visual problems (see entry Vision disorders in Childhood): – retinal pigment abnormalities – myopia (nearsightedness) – night blindness – detached retina orthopaedic problems: – scoliosis – hemihypertrophy (asymmetry of growth on either side of the body) precocious puberty (see entry Premature Sexual Maturation) heart abnormalities (see entry Heart Defects).
What are the causes? It is thought the condition occurs due to a change in DNA or chromosomes after the sperm fertilises the egg (a process known as conception).
How is it diagnosed? Hypomelanosis of Ito is present at birth and is usually picked up by a dermatologist, paediatrician or neurologist during the first year of life. Thorough history taking and physical examination with attention to neurological and ophthalmological (eye) problems is necessary to detect any problems. When a sample of skin cells from a person affected are grown in the laboratory, an abnormal chromosome pattern is found in about one third of affected individuals.
How is it treated? The skin effects of hypomelanosis of Ito do not require treatment. In many cases, the skin may develop pigment (colour) over time and blend in well with normal skin. Skin camouflage creams may be used if children are conscious of their appearance. Neurological problems, orthopaedic problems and ophthalmological problems will need monitoring by the appropriate specialists and treatment given if necessary. Anti-convulsant medication may be required to control seizures. The appropriate social and educational support will need to be put in place for children with a learning disability.
Inheritance patterns and prenatal diagnosis Inheritance patternsThis is not an inherited disorder, since the error occurs after conception in one population of cells. Prenatal diagnosisThis condition is not recurrent (occurring again). Management of future pregnancies should be in families should follow routine guidelines, although detailed ultrasound scanning may provide added reassurance.
Is there support? HITS Worldwide Family Support Group Tel: 07940 114943 (National Contact)Email: [email protected]Website: www.hitsfamilysupportnetwork.notion.siteFacebook: https://www.facebook.com/groups Supporting families affected by the Hypomelanosis of Ito syndrome since 1985, offering support via a Facebook group, email and newsletters. Also offering links to other similarly affected families, where possible. Group details last updated April 2025.