RESUMO
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.
Assuntos
Dermoscopia/métodos , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Microftalmia/patologia , Anormalidades da Pele/patologia , Deleção Cromossômica , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Recém-Nascido , Microftalmia/genética , Pele/patologia , Anormalidades da Pele/genética , SíndromeRESUMO
Reações cutâneas são as reações adversas a medicamentos mais freqüentes, ocorrendo em 2% de todos os tratamentos. O objetivo deste trabalho é realizar uma revisão das drogas mais frequentemente envolvidas na Síndrome de Stevens-Johnson e na Necrólise Epidérmica Tóxica, assim como determinar o quadro clínico, diagnóstico e tratamento.
Skin reactions are the most frequent adverse reaction, accounting for 2% of treatments. The aim of this paper is to review those drugs that mainly cause Stevens-Johnson syndrome, toxic skin necrolysis and to determine clinical symptoms, diagnosis and management.