Literature DB >> 1574469

Hypomelanosis of Ito: diagnostic criteria and report of 41 cases.

R Ruiz-Maldonado1, S Toussaint, L Tamayo, A Laterza, V del Castillo.   

Abstract

We conducted a 20-year prospective review of 41 pediatric patients with a diagnosis of hypomelanosis of Ito. No evidence pointed to hereditary transmission of the disease. Associated extracutaneous pathology was mainly of the nervous and musculoskeletal systems. Three of 19 patients had chromosomal anomalies. Hypomelanosis of Ito is a clinically well-characterized syndrome in which chromosomal instability may be a component. Criteria for its presumptive and definitive diagnosis are proposed.

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Year:  1992        PMID： 1574469     DOI： 10.1111/j.1525-1470.1992.tb00317.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


  19 in total

1.  Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.

Authors:  C Knopf; R Rod; J Jaeken; M Berant; E Van Schaftingen; J P Fryns; R Brill-Zamir; R Gershoni-Baruch; S Lischinsky; H Mandel
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Hypomelanosis of Ito with cerebral malformation.

Authors:  Mary Iype; Thomas Iype; S Geetha; John Retnakumar
Journal:  Indian J Pediatr       Date:  2007-11       Impact factor: 1.967

Review 3.  Hypomelanosis of Ito: a round on the frequency and type of epileptic complications.

Authors:  Piero Pavone; Andrea Domenico Praticò; Martino Ruggieri; Raffaele Falsaperla
Journal:  Neurol Sci       Date:  2015-01-14       Impact factor: 3.307

Review 4.  Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review.

Authors:  J Steiner; C Adamsbaum; I Desguerres; G Lalande; F Raynaud; G Ponsot; G Kalifa
Journal:  Pediatr Radiol       Date:  1996-11

5.  Hypomelanosis of Ito.

Authors:  J Sridhar; S Narayan; Plk Desylva
Journal:  Med J Armed Forces India       Date:  2011-07-21

6.  Hypomelanosis of Ito with gynaecomastia and dental anomaly.

Authors:  Mudita Gupta; Pragya Gupta; Reena Sharma; Archit Gupta
Journal:  BMJ Case Rep       Date:  2018-07-06

Review 7.  The results of early physiotherapy on a child with incontinentia pigmenti with encephalocele.

Authors:  Ozgun Kaya Kara; Akmer Mutlu; Mintaze Kerem Gunel
Journal:  BMJ Case Rep       Date:  2010-08-05

Review 8.  Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature.

Authors:  Komi Assogba; Edoardo Ferlazzo; Pasquale Striano; Tiziana Calarese; Nathalie Villeneuve; Ivan Ivanov; Placido Bramanti; Edoardo Sessa; Iliana Pacheva; Pierre Genton
Journal:  Neurol Sci       Date:  2009-11-10       Impact factor: 3.307

9.  Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Authors:  J E Pellegrino; R E Schnur; R Kline; E H Zackai; N B Spinner
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

10.  Retinoblastoma presenting in a child with hypomelanosis of Ito.

Authors:  Tarek El-Sawy; Lingmin He; Michael F Chiang; Kwame Anyane-Yeboa; Kimberly D Morel; Robert Folberg; Brian P Marr; David Abramson
Journal:  Open Ophthalmol J       Date:  2011-12-19
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