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.
authors.affiliation: Federal and Catholic University of Pelotas, Brazil, Associate Professor of Dermatology - Federal and Catholic University of Pelotas, Brazil.
authors.forename: Hiram Larangeira de
authors.initials: HL
authors.lastname: Almeida
authors.affiliation: Catholic University of Porto Alegre, Brazil, Dermatology Resident - Catholic University of Porto Alegre, Brazil.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Rossi
authors.affiliation: Catholic University of Porto Alegre, Brazil, Dermatology Resident - Catholic University of Porto Alegre, Brazil.
authors.forename: Luciana Boff de
authors.initials: LB
authors.lastname: Abreu
authors.affiliation: Catholic University of Porto Alegre, Brazil, Dermatology Resident - Catholic University of Porto Alegre, Brazil.
authors.forename: Cristina
authors.initials: C
authors.lastname: Bergamaschi
authors.affiliation: Catholic University of Porto Alegre, Brazil, Pediatrics Resident - Catholic University of Porto Alegre, Brazil.
authors.forename: Alessandra Banaszeski da
authors.initials: AB
authors.lastname: Silva
authors.affiliation: University Medical Center Hamburg-Eppendorf, Institute of Human Genetics, Hamburg, Germany, Professor, Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Kutsche
mesh_terms: D002872:Chromosome Deletion; D046169:Dermoscopy / Q000379:methods*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008850:Microphthalmos / Q000235:genetics / Q000473:pathology*; D012867:Skin / Q000473:pathology; D012868:Skin Abnormalities / Q000235:genetics / Q000473:pathology*; D013577:Syndrome