Hypomelanosis of Ito: Diagnostic Criteria and Report of 41 Cases

Ruíz-Maldonado, Ramón; Toussaint, Sonia; Tamayo, Lourdes; Laterza, A; Castillo, Victoria del

doi:10.1111/j.1525-1470.1992.tb00317.x

Cited by 162 publications

(113 citation statements)

References 39 publications

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“…In 1967, Hamada et al confirmed the association between skin lesions and systemic abnormalities, including mental retardation. RuizMaldonado et al proposed diagnostic criteria in 1992 [3]. We report two patients with this disorder.…”

Section: Introductionmentioning

confidence: 79%

“…Some believe HOI is related to autosomal dominant inheritance [8] and others attribute it to chromosome instability and mosaicism [3]. Chromosomal abnormalities, particularly translocation and mosaicism have been reported in approximately 50% of cases [5].…”

Section: Discussionmentioning

confidence: 99%

“…Multiple extracutaneous abnormalities involving the central nervous system, eyes and musculoskeletal structures occur in 76-94% of patients [3,4,9]. Convulsions and mental deficiency are common.…”

Section: Discussionmentioning

confidence: 99%

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Hypomelanosis of Ito

Sridhar¹,

Narayan

Desylva

2006

Medical Journal Armed Forces India

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Section: Introductionmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 99%

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Hypomelanosis of Ito

Sridhar¹,

Narayan

Desylva

2006

Medical Journal Armed Forces India

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“…A HI é uma síndrome clínica bem caracterizada na qual a instabilidade cromossômica pode ser um componente 13,14 . Anomalias cromossômicas, especialmente translocações ou mosaicismo, são encontradas em aproximadamente 50% dos casos 7 ; isso sustenta a hipótese de que o padrão é o resultado da migração de dois clones de melanó-citos primordiais, cada um com diferente potencial de pigmentação.…”

Section: Comentáriosunclassified

Hipomelanose de Ito - relato de um caso

Almeida¹,

Cechin²,

Ferraz³

et al. 2001

J. Pediatr. (Rio J.)

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ResumoObjetivo: Os autores têm como objetivo relatar um caso de hipomelanose de Ito (HI), uma síndrome neurocutânea rara, com alterações neurológicas e cromossômicas associadas ao comprometimento cutâneo e pneumonias de repetição.Relato do caso: Este relato é referente a um paciente masculino, 1 ano e 11 meses, internado no Hospital Universitário São Vicente de Paulo por broncopneumonia bilateral. Ao exame foram observadas máculas hipocrômicas na pele compatíveis com HI, além de atraso do desenvolvimento neuropsicomotor. O paciente foi submetido à bióp-sia incisional de pele das lesões do abdômen, eletroencefalograma, ressonância magnética e estudo citogenético.Resultados: Os exames histológico e imunoistoquímico evidenciaram ausência de melanina e diminuição de melanócitos em áreas focais da epiderme, respectivamente. O eletroencefalograma apresentou disfunção córtico-subcortical difusa. A ressonância magnética do encéfalo foi compatível com cisto aracnoídeo em região temporal. O cariótipo evidenciou mosaicismo cromossômico com uma linhagem normal (46,XY) e uma linhagem celular que apresentava deleção intersticial nas bandas 22.2 -24.2 do braço longo do cromossomo 10 (25%).Conclusões: Os autores, com o presente estudo, destacam a importância das lesões de pele na definição etiológica das desordens neuropediátricas.J Pediatr (Rio J) 2001; 77(1): 59-62: hipomelanose de Ito, síndromes neurocutâneas, incontinência pigmentar acromiante. AbstractObjectives: The authors report a case of hypomelanosis of Ito (HI), a rare neurocutaneous syndrome, with neurological and chromosomal alterations associated to the cutaneous involvement and recurrent pneumonia.Case report: This is the case of a male patient, 1 year and 11 months old, hospitalized with bilateral bronchopneumonia at the São Vicente de Paulo Hospital. Examining the patient, hypochromic maculas in the skin, compatible with HI, and a delay in the neuropsychomotor development were observed. The patient was submitted to incisive biopsy of the skin lesions of the abdomen, electroencephalogram, magnetic resonance and cytogenetic evaluation.Results: The histologic and immunohistochemistry exams evinced melanin absence and melanocyte reduction in focal areas of the epidermis, respectively. The electroencephalogram revealed diffuse cortico-subcortical disfunction. The encephalon magnetic resonance imaging was compatible with arachnoid cyst in the temporal region. The cariotipo evinced chromosome mosaic with a normal lineage (46,XY) and a cellular lineage revealing interstitial deletion in the 22.2 -24.2 bands of the arm of chromosome 10 (25%).Conclusions: With the present study, the authors emphasize the importance of skin lesions in the etiologic definition of neuropediatric disorders.

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“…HI is a well-defined entity in the dermatologic literature (2,5) and is thought to be one of the neurocutaneous syndroms because it is often associated with seizures and mental retardation (3,4). Although short stature is sometimes associated with HI, the cause has not been studied.…”

Section: Case Reportmentioning

confidence: 99%

Hypomelanosis of Ito with Growth Hormone Deficiency

Miyamoto

Sasaki

Sato

et al. 1994

Clin Pediatr Endocrinol

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Abstract. We report a case of Hypomelanosis of Ito, a neurocutaneous syndrome, with GH deficiency. Case: A 10-year-old Japanese girl was referred to our hospital with hypopigmentation and short stature. She was born at term (birth weight, 2,460g) and delivery was normal. Her growth failure was severe and her height was 105.2cm ( -5.3SD). Symmetrical linear hypopigmentation on the trunk and extremities was noted. Her mental development was retarded, but she had no convulsions. Her bone age was 7 years. Peak GH level after insulin and arginine stimulation was 5.5 and 6.6ng/ml, respectively. Human GH therapy was started at a dose of 0.5U/kg/week. Her height gain was 6.4cm/year for 6 months. This is the first report on GH secretion in hypomelanosis of Ito with short stature. GH therapy was effective in the short term in this patient.

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Hypomelanosis of Ito: Diagnostic Criteria and Report of 41 Cases

Cited by 162 publications

References 39 publications

Hypomelanosis of Ito

Hypomelanosis of Ito

Hipomelanose de Ito - relato de um caso

Hypomelanosis of Ito with Growth Hormone Deficiency

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