CEDNIK Syndrome, a Rare Neuro-Cutaneous Disorder in an Iranian Patient: Case Report and Review of Specific Neuro-Ichthyotic Syndromes

Farah Ashrafzadeh; Mahla Esmaeilzadeh; Javad Mohammadi Asl; Narges Hashemi; Shima Imannezhad; Nazanin Saeedi Zand; Hanieh Sadat Mirzadeh

doi:10.18502/acta.v60i3.9009

Farah Ashrafzadeh Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Mahla Esmaeilzadeh Student Research Committee (SRC), School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Javad Mohammadi Asl Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
Narges Hashemi Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Shima Imannezhad Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Nazanin Saeedi Zand Department of Pediatrics, School of Medicinex, Mashhad University of Medical Sciences, Mashhad, Iran
Hanieh Sadat Mirzadeh Department of Pediatrics, School of Medicinex, Mashhad University of Medical Sciences, Mashhad, Iran

DOI: https://doi.org/10.18502/acta.v60i3.9009

Keywords: Ichthyosis; Cerebral dysgenesis; Keratoderma; Neurology; Pediatrics

Abstract

Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome is an autosomal recessive neuro-cutaneous disorder characterized by a collection of clinical manifestations, including microcephaly, cerebral dysgenesis, palmoplantar keratoderma, facial dysmorphism, and ichthyosis. The etiology of this condition has been proved to be a homozygous mutation in the SNAP29 gene, which has an essential role in dermatological and neurological manifestations of this syndrome. In this report, we present the first documented Iranian patient with CEDNIK syndrome. So far, only 14 cases of this condition have been reported globally.