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The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature.

ABSTRACT: The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation along the lines of Blaschko. Although it was originally described as a purely cutaneous disease, subsequent studies describing HI reported a 33% to 94% association with multiple extracutaneous manifestations, mostly of the central nervous and musculoskeletal systems. This leads to characterization of HI as a neurocutaneous disorder. We report a 10-year-old boy who presented with constellation of multiple congenital anomalies including facial dysmorphism, skin hypopigmentation, musculoskeletal, and nervous system abnormalities. The latter manifested as hypotonia, generalized seizures, and mild mental retardation. Cranial magnetic resonance imaging revealed normal finding initially, however; follow-up diffusion weighted images were suggestive of a possible iron accumulation. The facial phenotype coupled with the bilateral globus pallidi lesions were never been reported in association with HI. Thus, our patient represents a possible novel example of HI.

SUBMITTER: Kentab AY

PROVIDER: S-EPMC4949800 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature.

Kentab Amal Y AY Hassan Hamdy H HH Hamad Muddathir H A MH Alhumidi Ahmed A

Sudanese journal of paediatrics 20140101 2

The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation along the lines of Blaschko. Although it was originally described as a purely cutaneous disease, subsequent studies describing HI reported a 33% to 94% association with multiple extracutaneous manifestations, mostly of the central nervous and musculoskeletal systems. This leads to characterization of HI as a neurocutaneous disorder. We report a 10-year-old boy who presented with constellation of multiple cong ...[more]

PMID: 27493406

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Project description:Objective: The aim of the present study is to explore the clinical and genetic characteristics of 3p deletion syndrome to improve clinicians' understanding of the disease. Methods: The clinical manifestations, process of diagnosis and treatment, and genetic characteristics of an individual case of 3p deletion syndrome were analyzed. CNKI, Wanfang Data, and the Biomedical Literature Database (PubMed) were searched. The search time limit, using "3p deletion syndrome" and "BRPF1" as keywords, was from the creation of the database up to June 2020. Related data were reviewed. Results: The proband was a male child with general developmental and intellectual disabilities, special facial features and congenital heart disease. The child was the parents' first pregnancy and first born. Gene microarray analysis showed a 10.095 Mb deletion in the 3p26.3-p25.3 region, resulting in a heterozygous mutation of the BRPF1 gene; thus, the patient was diagnosed with 3p deletion syndrome. At the time of diagnosis, the child was 1 year of age and was responding to comprehensive rehabilitation training. A total of 29 well-documented cases were found in the literature, of which 19 cases had an onset within 1 year of birth, and mainly manifested with mental and motor development disabilities and abnormal facial features, with different gene deletions, depending on the size and location of the 3p deletion. Conclusion: The genetic test results of the child in this study indicated a heterozygous deletion of the BRPF1 gene on the short arm of chromosome 3, which was a unique feature of this study, since it was rarely mentioned in other reports of 3p deletion syndrome. The clinical phenotype of this syndrome is complex as it can include intellectual and motor development backwardness, low muscle tone, certain abnormal facial features (low hairline, bilateral ptosis, widely spaced eyes, a forward nose, left ear auricle deformity, a high-arched palate, a small jaw), and the deformation of systems such as the gastrointestinal tract and the urinary tract malformation or symptoms of epilepsy. As clinical manifestations can be relatively mild, the syndrome is easy to miss or misdiagnose. Clinical workers need to be aware of this disease when they find that children have special features, such as stunted growth, low muscle tone or ptosis, and it needs to be diagnosed through genetic testing. Most children are able to develop certain social skills after rehabilitation treatment.

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The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature.

Publications

The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature.

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