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

OBJECTIVES

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.

METHODS

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.

RESULTS

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.

CONCLUSION

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.