Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified, but a clear correlation between genetic causes and clinical picture has not been described to date. Methods Our study included 19 families from Saudi Arabia, Yemen, and Pakistan. All patients were born to consanguineous parents and diagnosed with ARCI. Mutations were analyzed by homozygosity mapping and direct sequencing. Results We have detected mutations in all families in five different genes: TGM1, ABCA12, CYP4F22, NIPAL4, and ALOXE3. Five likely pathogenic variants were unknown so far, a splice site and a missense variant in TGM1, a splice site variant in NIPAL4, and missense variants in ABCA12 and CYP4F22. We attributed TGM1 and ABCA12 mutations to the most severe forms of lamellar and erythematous ichthyoses, respectively, regardless of treatment. Other mutations highlighted the presence of a phenotypic spectrum in ARCI. Conclusion Our results contribute to expanding the mutational spectrum of ARCI and revealed new insights into genotype/phenotype correlations. The findings are instrumental for a faster and more precise diagnosis, a better understanding of the pathophysiology, and the definition of targets for more specific therapies for ARCI

Acne neonatorum in the eastern Saudi Arabia

Background: Acne neonatorum (AN) is characterized by a facial eruption of inflammatory and noninflammatory acne lesions in a neonate. Hyperactivity of sebaceous glands, stimulated by neonatal androgens, is implicated in its pathogenesis. Aim: To elucidate the clinical profile of AN in eastern Saudi Arabia. Methods: All patients diagnosed with AN in King Fahd Hospital of the University in Khobar, Saudi Arabia, during the year 2005 were evaluated clinically. Results: AN was diagnosed in 26 patients (male/female ratio 1:1). The lesions included mainly facial comedones (30.8%); papules and pustules (15.3% each); and combination of papules, pustules, and cysts (53.4%). Conclusion: All patients recovered spontaneously. In 50% of the cases, one of the parents reported having had acne vulgaris during adolescence. Hereditary factors seem to play a significant role in our series