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Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome

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Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome. / de Almeida, Hiram Larangeira; Rossi, Gabriela; de Abreu, Luciana Boff; Bergamaschi, Cristina; da Silva, Alessandra Banaszeski; Kutsche, Kerstin.

in: AN BRAS DERMATOL, Jahrgang 89, Nr. 1, 2014, S. 180-1.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

de Almeida, HL, Rossi, G, de Abreu, LB, Bergamaschi, C, da Silva, AB & Kutsche, K 2014, 'Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome', AN BRAS DERMATOL, Jg. 89, Nr. 1, S. 180-1. https://doi.org/10.1590/abd1806-4841.20142240

APA

de Almeida, H. L., Rossi, G., de Abreu, L. B., Bergamaschi, C., da Silva, A. B., & Kutsche, K. (2014). Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome. AN BRAS DERMATOL, 89(1), 180-1. https://doi.org/10.1590/abd1806-4841.20142240

Vancouver

de Almeida HL, Rossi G, de Abreu LB, Bergamaschi C, da Silva AB, Kutsche K. Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome. AN BRAS DERMATOL. 2014;89(1):180-1. https://doi.org/10.1590/abd1806-4841.20142240

Bibtex

@article{338ed434044043c4a9826f1f5a4dfaf4,
title = "Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome",
abstract = "The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females. We examined a female newborn with facial linear skin defects following the Blaschko lines. Computer tomography and ophthalmological examination confirmed bilateral microphthalmia. An interstitial microdeletion at Xp22.2, encompassing the entire HCCS gene, was identified. Dermatoscopic examination showed erythematous linear areas with telangectasias and absence of sebaceous glands, which appear as brilliant white dots. Vellus hairs were also absent in the red areas. Dermatoscopy could help to establish the diagnosis of MLS/MIDAS syndrome by confirming the aplastic nature of the lesions.",
author = "{de Almeida}, {Hiram Larangeira} and Gabriela Rossi and {de Abreu}, {Luciana Boff} and Cristina Bergamaschi and {da Silva}, {Alessandra Banaszeski} and Kerstin Kutsche",
year = "2014",
doi = "10.1590/abd1806-4841.20142240",
language = "English",
volume = "89",
pages = "180--1",
journal = "AN BRAS DERMATOL",
issn = "0365-0596",
publisher = "Sociedade Brasileira de Dermatologia",
number = "1",

}

RIS

TY - JOUR

T1 - Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome

AU - de Almeida, Hiram Larangeira

AU - Rossi, Gabriela

AU - de Abreu, Luciana Boff

AU - Bergamaschi, Cristina

AU - da Silva, Alessandra Banaszeski

AU - Kutsche, Kerstin

PY - 2014

Y1 - 2014

N2 - The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females. We examined a female newborn with facial linear skin defects following the Blaschko lines. Computer tomography and ophthalmological examination confirmed bilateral microphthalmia. An interstitial microdeletion at Xp22.2, encompassing the entire HCCS gene, was identified. Dermatoscopic examination showed erythematous linear areas with telangectasias and absence of sebaceous glands, which appear as brilliant white dots. Vellus hairs were also absent in the red areas. Dermatoscopy could help to establish the diagnosis of MLS/MIDAS syndrome by confirming the aplastic nature of the lesions.

AB - The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females. We examined a female newborn with facial linear skin defects following the Blaschko lines. Computer tomography and ophthalmological examination confirmed bilateral microphthalmia. An interstitial microdeletion at Xp22.2, encompassing the entire HCCS gene, was identified. Dermatoscopic examination showed erythematous linear areas with telangectasias and absence of sebaceous glands, which appear as brilliant white dots. Vellus hairs were also absent in the red areas. Dermatoscopy could help to establish the diagnosis of MLS/MIDAS syndrome by confirming the aplastic nature of the lesions.

U2 - 10.1590/abd1806-4841.20142240

DO - 10.1590/abd1806-4841.20142240

M3 - SCORING: Journal article

C2 - 24626674

VL - 89

SP - 180

EP - 181

JO - AN BRAS DERMATOL

JF - AN BRAS DERMATOL

SN - 0365-0596

IS - 1

ER -