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Titolo:
HYPOMELANOSIS OF ITO - A DESCRIPTION, NOT A DIAGNOSIS
Autore:
SYBERT VP;
Indirizzi:
UNIV WASHINGTON,CHILDRENS HOSP & MED CTR,DEPT DERMATOL,4800 SAND POINT WAY NE,CH-25 SEATTLE WA 98105
Titolo Testata:
Journal of investigative dermatology
fascicolo: 5, volume: 103, anno: 1994, supplemento:, S
pagine: 190000141 - 190000143
SICI:
0022-202X(1994)103:5<190000141:HOI-AD>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
INCONTINENTIA PIGMENTI ACHROMIANS; MOSAICISM; BLASCHKO; LINES;
Keywords:
INCONTINENTIA PIGMENTI ACHROMIANS; CHROMOSOMAL MOSAICISM; GENETICS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
20
Recensione:
Indirizzi per estratti:
Citazione:
V.P. Sybert, "HYPOMELANOSIS OF ITO - A DESCRIPTION, NOT A DIAGNOSIS", Journal of investigative dermatology, 103(5), 1994, pp. 190000141-190000143

Abstract

The term hypomelanosis of Ito has been used as a diagnosis for individuals with hypopigmentation or depigmentation distributed along the lines of Blaschko. Approximately half of these patients have had neurologic, skeletal, and/or ocular abnormalities. In many, determination that the lighter areas of skin were hypopigmented rather than the darker areas hyperpigmented has been arbitrary. Evidence documenting single-gene transmission is unconvincing and recurrence risks appear to be negligible in most instances. Karyotyping of blood lymphocytes, skin fibroblasts, and/or keratinocytes of 115 individuals reported in the literature revealed abnormal chromosome constitutions in 60. Three patientswere 46,XX/46,XY chimeras, two were 46,XX/46,XX chimeras. Most patients were mosaic for aneuploidy or unbalanced translocations, with two or more chromosomally distinct cell lines either within the same tissueor between tissues. The more common alterations included mosaic trisomy 18, diploidy/triploidy, mosaicism for sex chromosome aneuploidy, and tetrasomy 12p. Karyotyping of blood and, if necessary, skin, to detect mosaicism is warranted in all patients presenting with swirley pigmentary changes, either hyperpigmentation or hypopigmentation. The terms hypomelanosis of Ito and incontinentia pigmenti achromians should beabandoned as they are neither diagnostic nor specific.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 12:43:37