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CASE REPORT
Year : 2018  |  Volume : 6  |  Issue : 1  |  Page : 36-39

Epidermolytic ichthyosis without keratin 1 or 10 mutations: A case report


1 Department of Medicine, Section of Dermatology, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Kingdom of Saudi Arabia
2 Department of Pathology, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Kingdom of Saudi Arabia

Correspondence Address:
Ahmed M Abdelaal
Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, King Khalid National Guard Hospital, PO Box 9515, Jeddah 21423
Kingdom of Saudi Arabia
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DOI: 10.4103/1658-631X.220800

PMID: 30787815

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In this paper, the authors report a case of an 11-year-old boy with epidermolytic ichthyosis who presented with multiple scattered erosions and typical hyperkeratotic plaques over the face, upper and lower extremities, the trunk, palms and soles. Family history revealed an affected older male sibling and an affected first-degree female relative. In addition, there was a positive history of generations of consanguinity in the patient's family pedigree, increasing the probability of an autosomal recessive inheritance. The clinical diagnosis was confirmed by histopathology; however, mutations in the keratin 1 and 10 genes were absent. This case report addresses the importance of establishing correct diagnosis and mode of inheritance, with literature review of genetic mutations, possible differential diagnosis and the most common and successful treatment modalities for epidermolytic ichthyosis.


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