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Hypomelanosis of Ito: spectrum of the disease
M T Glover1, E M Brett, D J Atherton
1Department of Dermatology, Hospital for Sick Children, London, England.
Insights
Hypomelanosis of Ito, a rare genetic disorder, often presents with developmental delays and seizures in children. Evidence suggests mosaicism, not inheritance, may cause this condition.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Hypomelanosis of Ito is a rare neurocutaneous disorder characterized by ipelago-like skin hypopigmentation.
- The condition is associated with a wide range of congenital anomalies and neurological abnormalities.
Purpose of the Study:
- To describe the clinical manifestations and neurological findings in a cohort of children with Hypomelanosis of Ito.
- To investigate the etiology of Hypomelanosis of Ito, particularly the possibility of inheritance versus mosaicism.
Main Methods:
- Retrospective case series describing clinical features, developmental outcomes, and neurological assessments.
- Review of literature for evidence of inheritance patterns.
Main Results:
- Nineteen children with Hypomelanosis of Ito were evaluated.
- Developmental delay (14/19) and seizures (9/19) were common. Other findings included hemihypertrophy (4/19), syndactyly (3/19), and scoliosis (1/19).
- Abnormal electroencephalograms (12/19) and brain scans (9/19), suggesting neuronal migration abnormalities, were frequently observed.
Conclusions:
- Hypomelanosis of Ito frequently causes developmental delay and neurological abnormalities in children.
- The cutaneous lesion pattern suggests mosaicism as the likely etiology, with limited evidence for hereditary transmission.
Abstract:
Nineteen children with hypomelanosis of Ito are described. Fourteen were developmentally delayed and nine had a history of seizures. Hemihypertrophy was present in four patients, syndactyly in three, and scoliosis in one. Twelve of the children had abnormal electroencephalograms and nine had abnormal brain scans, four with appearances suggestive of abnormal neuronal migration. There is very little evidence, either from the literature or from our patients, that the disease is inherited. The pattern of the cutaneous lesions suggests that the condition may result from the presence of two different cell populations as a result of mosaicism.