Genodermatosis among the southwestern Saudi population: The pattern and the need for a premarital genetic screening...

To characterize the clinical and genetic spectrum of genodermatoses in Southwestern Saudi Arabia, the present study examines the impact of consanguinity on this particular population, and proposes a tailored premarital genetic screening protocol.

A retrospective cross-sectional study of 32 patients diagnosed with genodermatoses during the study period at a tertiary hospital (King Khalid Hospital, Najran) were included. Genetic screening was performed for patients with suspected genodermatoses based on clinical findings, using whole-exome sequencing (WES), specifically employing next-generation sequencing (NGS) technology. Clinical and genetic analysis data were extracted from medical records.

Among 32 patients diagnosed with genodermatoses, the majority were aged 1-10 years (50%), male (56.3%), and Saudi nationals (87.5%). Autosomal dominant inheritance was most prevalent (56.3%), followed by autosomal recessive and X-linked patterns (each 15.6%). Consanguinity was observed in 71.9% of cases, predominantly first-degree (53.1%). Twenty distinct genodermatoses were identified, with Ichthyosis Vulgaris being the most frequent (15.6%). Consanguinity showed a strong association with genodermatosis subtype (adjusted p=0.002176; Cramér's V=0.942), while inheritance patterns were significantly linked to genodermatosis subtype (adjusted p=0.0000053512; Cramér's V=1.000), but not to age, sex, or nationality. Most patients (90.6%) survived with complications.

Consanguinity contributes to a higher burden of autosomal dominant genodermatoses in Southwestern Saudi Arabia. Implementation of a premarital targeted genetic screening, integrated with culturally sensitive counseling and feasibility considerations, may reduce disease incidence and associated healthcare costs.