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, Vol. 89, No. 1, 2014, p. 180-1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -