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Revista Médica Electrónica
versión On-line ISSN 1684-1824
Resumen
LOPEZ DEL HUERTO, María Alicia; PEREZ GONZALEZ, Iraida; CASTRO SUAREZ, Naury y MUNOZ MEDINA, Idania. Harlequin ichthyosis: presentation of a case. Rev.Med.Electrón. [online]. 2020, vol.42, n.5, pp. 2408-2415. Epub 30-Oct-2020. ISSN 1684-1824.
Ichthyosiform genodermatoses are a heterogeneous group of cornification disorders characterized by hyperkeratosis and skin flaking. Harlequin ichthyosis is the most aggressive and serious form of congenital ichthyoses, presenting a low prevalence (1/300 000 births), with variable clinical expressivity, an unfavorable evolution and reserved prognosis. It appears with an autosomal recessive pattern and its prenatal diagnosis is still difficult. The authors present the case of a male preterm newborn, of 34 gestational weeks, without family history of skin disorders, and clinical characteristics of Harlequin ichthyosis, who died at the 11 day of birth. The disease clinical and anatomopathologic characterization was carried out and a review of this rare entity is made.
Palabras clave : congenital ichthyosis; harlequin fetus; genodermatosis.