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   Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome  
   
نویسنده de almeida jr. h.l. ,rossi g. ,de abreu l.b. ,bergamaschi c. ,da silva a.b. ,kutsche k.
منبع journal brazilian annals of dermatology - 2014 - دوره : 89 - شماره : 1 - صفحه:180 -181
چکیده    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-chromo-somal 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. © 2014 by anais brasileiros de dermatologia.
کلیدواژه Congenital abnormalities; Dermoscopy; Genetic; Genetic diseases ,X-linked; Skin diseases
آدرس federal and catholic university of pelotas, Brazil, catholic university of porto alegre, Brazil, catholic university of porto alegre, Brazil, catholic university of porto alegre, Brazil, catholic university of porto alegre, Brazil, institute of human genetics,university medical center hamburg-eppendorf,hamburg, Germany
 
     
   
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