RESUMEN
Ichthyoses are a heterogeneous group of cornification disorders. The most common form of ichthyoses is ichthyosis vulgaris (IV) ([OMIM] #146,700), which can be inherited as autosomal semi-dominant mutation in the filaggrin gene (FLG). We present the findings of a study involving 35 Saudi patients with a clinical diagnosis of ichthyosis vulgaris. For identifying the pathogenic mutation of their disease, we used Sanger sequencing analysis of the extracted DNA samples. We also identified the underlying 22 FLG variants, which have been seen before. However, the detected mutations do not involve the common p.R501* c. 2282del4 mutations reported in European populations. Indeed, we did not identify any statistical influence of the homozygous or heterozygous genotypes on the phenotype severity of the disease.
Asunto(s)
Dermatitis Atópica , Ictiosis Vulgar , Humanos , Dermatitis Atópica/genética , Proteínas Filagrina , Predisposición Genética a la Enfermedad , Ictiosis Vulgar/genética , Proteínas de Filamentos Intermediarios/genética , Mutación , Arabia SauditaRESUMEN
This article is about a common skin eruption that dermatologists face regularly in their clinics. It is a form of acne that patients frequently refer to as nightshifts acne, stress acne or airplane acne (after experiencing a prior occasion that might aggravate it). Physical or psychological stress is not the only causative factor, therefore we took into consideration of naming it based on its presentation irrespectively of the skin proneness to acne and self-limiting tendency, we name the entity as "occasional acne". This article will discuss the similarities and differences between this entity and other forms of acne, as well as different causative factors that are involved in the eruption. These factors vary individually whether single or multiple factors might provoke it; maladaptation driven by mental and/or physical stress, temporary imbalance of sebum lipids and nicotine effect, etc.
RESUMEN
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.