Title : Clinical and Molecular Characterization of Ichthyosis at King Abdulaziz Medical City (KAMC), Riyadh KSA
Introduction: Ichthyosis is a disorder of abnormal keratinization, characterized by excessive scaling and consists of more than twenty subtypes varied in severity, mode of inheritance and the genes involved. Unfortunately, there is insufficient data in the literature regarding the prevalence of ichthyosis locally.
Aim: to determine the prevalence of ichthyosis, identify the histopathological features and genetic profile of ichthyosis among King Abdulaziz Medical City patients (KAMC), Saudi Arabia.
Method: It is an observational retrospective case series study conducted in March 2020, included all patients who were diagnosed with Ichthyosis and confirmed by histological and molecular findings over the last 20 years in King Abdulaziz Medical City (KAMC), Riyadh, Saudi Arabia. Molecular analysis was performed by testing genomic DNA and checking genetic variations using the AmpliSeq panel. All disease-causing variants were checked against HGMD, ClinVar, Genome Aggregation Database (gnomAD) and Exome Aggregation Consortium (ExAC) databases.
Result: A total of 52 cases of Ichthyosis were identified with a mean age of 14±10 years. There is almost equal distribution between female patients 48% and males 52%. Majority of them were Saudis 94%. Ichthyosis Vlgaris was identified in 15.69% patients and X-linked ichthyosis in 15.69%. Four patients had Congenital Ichthyosiform Erythroderma 7.84%, and two had lamellar Ichthyosis 3.92%. More than half of patients presented with general scaling 59%. Associated conditions were also reported.
Conclusion: This study is the first pillar toward establishing the Ichthyosis genetic profile in Saudi Arabia. Several novel mutations were identified as not previously reported. Consanguineous marriage is clearly recognized in the Saudi population, therefore, we propose a nationwide Ichthyosis program that would help to extend the spectrum of the genetic profile and to prevent future of such devastating genetic disorder.