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Hypomelanosis of ITO. A study of 76 infantile cases
I Pascual-Castroviejo1, C Roche, A Martinez-Bermejo
1Pediatric Neurology Service, University Hospital La Paz, Madrid, Spain.
Insights
Hypomelanosis of Ito (HI) complications are common in children, with over half experiencing mental retardation and nearly half having seizures. This study details neurological and physical anomalies in 76 HI patients over 30 years.
Area of Science:
- Neurology
- Clinical Genetics
- Pediatrics
Background:
- Hypomelanosis of Ito (HI), also known as incontinentia pigmenti achromians, is a rare genetic disorder.
- Characterized by patchy hypopigmentation of the skin, HI can be associated with a wide range of systemic abnormalities.
- Long-term studies on the comprehensive complications in a large cohort of pediatric HI patients are limited.
Purpose of the Study:
- To document and analyze the spectrum of complications in a large series of children diagnosed with Hypomelanosis of Ito.
- To provide insights into the clinical, genetic, neurological, and psychological manifestations of HI in a pediatric population.
- To contribute to a better understanding of the long-term outcomes and disease burden associated with HI.
Main Methods:
- Retrospective analysis of 76 pediatric patients with Hypomelanosis of Ito (HI) over a 30-year period.
- Comprehensive evaluation including clinical assessment, genetic studies, psychological testing, and neuroimaging (CT/MRI).
- Electroencephalography (EEG) was utilized to assess neurological involvement.
Main Results:
- Mental retardation was present in 57% of patients, with 10% exhibiting autistic behavior.
- Seizures occurred in 49% of cases, including infantile spasms in 8%.
- Other observed anomalies included macrocephaly, microcephaly, hypotonia, cerebellar hypoplasia, and various skeletal and congenital abnormalities.
Conclusions:
- Hypomelanosis of Ito (HI) is associated with a high prevalence of neurological and developmental complications in children.
- The study highlights the significant impact of HI on cognitive function and the increased risk of seizures.
- Comprehensive, multidisciplinary management is crucial for addressing the diverse complications observed in HI patients.
Abstract:
We show the complications observed in a large series of children with hypomelanosis of Ito (HI) or incontinentia pigmenti achromians, studied in a neurology service over 30 years. Of the 76 patients, 35 were male (46%) and 41 female (54%) with ages ranging from newborn to 10 years at the time of the first visit. They were thoroughly studied from the clinical, genetic, psychological, neuroradiological, with computed tomography (CT) and/or magnetic resonance imaging (MRI), and electroencephalographic (EEG) points of view. Mental retardation was observed in 43 cases (57%) of whom eight (10%) showed autistic behavior; 16 (21%) were borderline and only 17 (22%) had a normal mental level (IQ > 85). Thirty-seven patients (49%) had seizures, consisting of infantile spasms in six cases (8%). Twelve cases showed macrocephaly and coarse facies, six had microcephaly, and 14 showed hypotonia with pes valgus and genu valgus. Three cases of cerebellar hypoplasia, another of intracranial arteriovenous malformation and another of distal spinal muscular atrophy were observed as well. Some other anomalies, such as syndactyly, clinodactyly, abnormalities of the skeleton, asymmetry of the facies, ears, body and/or extremities, gynecomastia and asymmetrical breasts, short stature, oral alterations, congenital cardiopathies and genital anomalies, were also occasionally found. Three children died, but necropsy was performed only in one. Anatomical and histological studies did not disclose specific findings.