Toxic epidermal necrolysis (TEN) is a rare but serious dermatological emergency characterized by diffuse exfoliation of the skin and mucous membranes [1], the epidermal loss is due to massive keratinocyte apoptosis and/or necroptosis. TEN is often caused by a drug mediating a specific TCR‐HLA interaction via the (pro)hapten, Frequently, the eyes and mucous membranes are affected [2]. We report a case of a successfully recovered TEN due to amoxicillin-clavulanic acid in a 60 years old female patient.

Background Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large variability in the age of onset, evolution and visual impact and the accumulation of insoluble deposits at different depths in the cornea. Clinical symptoms revealed bilateral multiple superficial, epithelial, and stromal anterior granular opacities in different stages of severity among three patients of this family. A total of 99 genes are involved in CDs. The aim of this study was to identify pathogenic variants causing atypical corneal dystrophy in a large Moroccan family and to describe the clinical phenotype with severely different stages of evolution. Case presentation In this study, we report a large Moroccan family with CD. Whole-exome sequencing (WES) was performed in the three affected members who shared a phenotype of corneal dystrophy in different stages of severity. Variant validation and familial segregation were performed by Sanger sequencing in affected sisters and mothers and in two unaffected brothers. Whole-exome sequencing showed a novel heterozygous mutation (c.1772C > A; p.Ser591Tyr) in the TGFBI gene. Clinical examinations demonstrated bilaterally multiple superficial, epithelial and stromal anterior granular opacities in different stages of severity among three patients in this family. Conclusions This report describes a novel mutation in the TGFBI gene found in three family members affected by different phenotypic aspects. This mutation is associated with Thiel-Behnke corneal dystrophy; therefore, it could be considered a novel phenotype genotype correlation, which will help in genetic counselling for this family.

Pseudoexfoliation syndrome (PEX) is a systemic disorder of the extracellular matrix that presents primarily via its characteristic ocular manifestations [1]. Typically, white fibrillary residue on the anterior lens capsule and pupillary margin is observed, as are pupillary transillumination defects and pigmentation of the trabecular meshwork [2]. Zonular weakness can be attributed to the deposition of pseudoexfoliative material on the zonular fibers and ciliary processes, resulting in a proteolytic disintegration of the zonule that can lead to spontaneous fragmentation [2]. We report a case of a dislocation of the hole crystalline lens in the anterior chamber in a patient with pseudoexfoliation syndrome.

Background: Corneal dystrophy (CDs) is a heterogeneous group disease, genetically determined non-inflammatory bilateral corneal diseases (usually limited to the cornea). CD is characterized by a large variability in the age of onset, evolution and visual impact and the accumulation of insoluble deposits at different depths of the cornea. Clinical symptoms revealed bilaterally multiple superficial, epithelial, and stromal anterior granular opacities, in different stages of severity among three patients of this family. 99 genes are involved in (CDs).The aim of this study is to identify pathogenic variant caused atypical corneal dystrophy in a large Moroccan family and to describe the clinical phenotype with their severe different stages of evolution.Methods: In this study, we report a large Moroccan family with fourteen individuals affected by corneal dystrophy. Whole Exome Sequencing (WES) was performed in the propositus (IV-7) which had corneal pain since the age of 18, associated with a decrease in visual acuity with anterior epithelial and stromal corneal dystrophy, in the form of microvacuole and poorly individualized anterior opacities, with fuzzy edges and an unevenness of the epithelial layers taking the sawtooth appearance. The familial segregation was done by Sanger sequencingResults: Whole exome sequencing showed a novel heterozygous mutation (c.1772C>A; p.Ser591Tyr) in TGFBI gene. Clinical examinations demonstrated bilaterally multiple superficial, epithelial and stromal anterior granular opacities; in different stages of severity among three patients of this family. Conclusions: This report presents a novel mutation in TGFBI gene, found in all family members affects with different phenotypic aspects. This mutation is associated with Thiel-Behnke corneal dystrophy and therefore, it could be considered as a novel phenotype genotype correlation, which will help in genetic counseling for this family

Background: Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large variability in the age of onset, evolution and visual impact and the accumulation of insoluble deposits at different depths in the cornea. Clinical symptoms revealed bilateral multiple superficial, epithelial, and stromal anterior granular opacities in different stages of severity among three patients of this family. A total of 99 genes are involved in CDs. The aim of this study was to identify pathogenic variants causing atypical corneal dystrophy in a large Moroccan family and to describe the clinical phenotype with severely different stages of evolution. Case presentation: In this study, we report a large Moroccan family with CD. Whole-exome sequencing (WES) was performed in the three affected members who shared a phenotype of corneal dystrophy in different stages of severity. Variant validation and familial segregation were performed by Sanger sequencing in affected sisters and mothers and in two unaffected brothers. Whole-exome sequencing showed a novel heterozygous mutation (c.1772C>A; p.Ser591Tyr) in the TGFBI gene. Clinical examinations demonstrated bilaterally multiple superficial, epithelial and stromal anterior granular opacities in different stages of severity among three patients in this family. Conclusions: This report describes a novel mutation in the TGFBI gene found in three family members affected by different phenotypic aspects. This mutation is associated with Thiel-Behnke corneal dystrophy; therefore, it could be considered a novel phenotype genotype correlation, which will help in genetic counselling for this family.