Open AccessHarlequin Ichthyosis: Case Report
Author(s) -
Patrícia Amaral Couto,
Marcela C. Pastore,
Jessica C. N. Araújo,
Cecilya Melo Mota,
Caroline Albuquerque Rodrigues Chirano,
Valeria K. A. Ferreira,
Sidharta Quércia Gadelha,
Elaine Dias Melo,
Patricia Chicre Bandeira de Melo,
Luciana Mendes dos Santos
Publication year - 2019
Publication title -
revista da sociedade portuguesa de dermatologia e venereologia
Language(s) - English
Resource type - Journals
eISSN - 2182-2409
pISSN - 2182-2395
DOI - 10.29021/spdv.77.1.984
Subject(s) - ichthyosis , acitretin , dermatology , medicine , ectropion , congenital ichthyosis , consanguinity , pediatrics , surgery , eyelid , psoriasis
Harlequin ichthyosis is a rare autosomal recessive congenital disease in which neonates present generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, malformation of the auricular pavilion and typical facies. Although several complications related to the skin restriction may occur, support in intensive care and early introduction of systemic retinoids, such as acitretin, have significantly contributed to patients' survival and improved prognosis. The purpose of this report is to present a rare case of harlequin ichthyosis and to discuss strategies for early diagnosis and first supportive care.