Hypomelanosis of lto associated with neuroblastoma

Oguma, Eiji; Aihara, Toshinori; Shimanuki, Y.; Moritani, Toshio; Kikuchi, Akira; Imaizumi, Satoshi; Ogawa, Yoshihiro; Fukushima, Y.; Samejima, T.

doi:10.1007/bf01372110

Cited by 13 publications

(3 citation statements)

References 5 publications

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“…2,8,18Kyphoscoliosis or scoliosis not requiring surgery, pectus excavatum, and carinatum are other relatively common findings as are small hands and feet, pes valgus or varus, genu valgus, or congenital hip dislocation. Occasional patients can mosaic chromosomal abnormalities were found, whereas no chromosomal mosaic could be found in the blood and tumor karyotypes in the medulloblastoma reported bySteiner et al2o No genetic data were reported in the remnants 58,59,91,92,94.…”

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confidence: 91%

Topical Review: Hypomelanosis of Ito: Clinical Syndrome or Just Phenotype?

2000

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The term hypomelanosis of Ito is applied to individuals with skin hypopigmentation along the lines of Blaschko. Even though originally described as a purely cutaneous disease, subsequent reports have included a 33% to 94% association with multiple extracutaneous manifestations mostly of the central nervous and musculoskeletal systems leading to frequent characterization as a neurocutaneous disorder. A number of reports claimed familial occurrence and supported single gene inheritance for hypomelanosis of Ito, but none has been proved. Miscellaneous chromosomal mosaicisms have been demonstrated in some but not all affected individuals. Thus, it has been suggested that hypomelanosis of Ito is not a single condition but rather a nonspecific manifestation (ie, a phenotype) of chromosomal mosaicism and that this term should now be dropped. In this article, we review these developments focusing on the neurologic and genetic aspects of hypomelanosis of Ito. Our personal experience with 41 hypomelanosis of Ito patients and literature review led us to conclude that (1) the term hypomelanosis of Ito has been often misapplied to individuals with nonspecific "patchy depigmentation of the skin" who had several conditions of different etiologies; (2) the white matter involvement seen at neuroimaging in most of our hypomelanosis of Ito patients was similar to that reported in well-defined neurocutaneous disorders, including Sjögren-Larsson syndrome and incontinentia pigmenti; (3) whatever figures we take for associated central nervous system abnormalities in hypomelanosis of Ito, these represent the most frequent extracutaneous findings and, therefore, the use of the term neurocutaneous disorder for hypomelanosis of Ito might well be appropriate.

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confidence: 91%

Topical Review: Hypomelanosis of Ito: Clinical Syndrome or Just Phenotype?

2000

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“…162 Rarely, malignant tumors such as acute lymphoblastic leukemia, 163 medulloblastoma, and neuroblastoma have been reported. 164,165 In 2011, El-Sawy et al reported on a child patient presenting with unilateral leukocoria, who was ultimately diagnosed with retinoblastoma. 166…”

Section: Hypomelanosis Of Ito and Tumorsmentioning

confidence: 99%

Hypomelanosis of Ito

et al. 2018

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Hypomelanosis of Ito (HI) is a congenital neurocutaneous syndrome presenting in the first year of life. It was first described by Ito in 1952 as a purely cutaneous disease presenting with skin hypopigmentation. Several extracutaneous manifestations were later described, and it is now known that several organs can be involved (including brain, muscle, bone, heart, eye, kidney, and teeth) and that the prognosis is strictly related to the number of involved organs. The incidence and prevalence of this syndrome have been estimated to range between 1 in 7,540 births and 1 in 82,000; the disorder affects both the sexes, occurs in all races, and is characterized by depigmentation of the skin along the lines of Blaschko on the trunk and extremities in whorled and linear streaks and patterns. The pathogenesis is unknown, but it is likely to be multifactorial. Several models of inheritance have been proposed but not proved; genetic mosaicism is nowadays the most likely explanation for its inheritance. The differential diagnosis comprises other disorders with hypopigmentation following the lines of Blaschko and thus includes the atrophic/hypopigmented (fourth) stage manifestations of incontinentia pigmenti of the Bloch–Sulzberger type, tuberous sclerosis complex, vitiligo, and skin fungal infections. Consensus recommendations for the screening of associated extracutaneous conditions do not exist and management is symptomatic, but a regular evaluation of somatic growth, neurodevelopment, endocrine status, eyes, and teeth should be performed, and the screening of renal function is also advisable. HI still represents a challenging disorder for the child neurologist and a controversial issue in the medical literature. Awareness of this disorder could allow an early diagnosis and appropriate genetic counseling and screening.

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“…Incontinentia pigmenti acromians (hypomelanosis of Ito) is associated with neuroblastoma (Oguma et al, 1996); the adrenal medulla and sympathetic chain from which neuroblastomas arise are neural crest derivatives. Incontinentia pigmenti acromians (hypomelanosis of Ito) is associated with neuroblastoma (Oguma et al, 1996); the adrenal medulla and sympathetic chain from which neuroblastomas arise are neural crest derivatives.…”

Section: Genetics Of Neurocutaneous Syndromesmentioning

confidence: 99%