Autosomal recessive congenital ichthyosis is a heterogeneous group of disorders associated with mutations in at least nine distinct genes. To ascertain the molecular basis of ichthyosis patients in Iran, a country of approximately 80 million people with a high prevalence of customary consanguineous marriages, we have developed a gene-targeted next generation sequencing array consisting of 38 genes reported in association with ichthyosis phenotypes. In a subset of nine extended consanguineous families, we found homozygous missense mutations in the PNPLA1 gene, six of them being distinct and, to our knowledge, previously unpublished. This gene encodes an enzyme with lipid hydrolase activity, important for development and maintenance of the barrier function of the epidermis. These six mutations, as well as four previously published mutations, reside exclusively within the patatin-like subdomain of PNPLA1 containing the catalytic site. The mutations clustered around the active center of the enzyme or resided at the surface of the protein possibly involved in the protein-protein interactions. Clinical features of the patients showed considerable intra- and interfamilial heterogeneity. Knowledge of the specific mutations allows identification of heterozygous carriers, assisting in genetic counseling, prenatal testing, and preimplantation genetic diagnosis in extended families at risk of recurrence of this disorder, the incidence of which is significantly increased in consanguineous marriages.

Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In this study, we have identified COL7A1 mutations in a large multi-ethnic cohort of 152 extended Iranian families with high degree of consanguinity. The patients were diagnosed by clinical manifestations, histopathology, and immunoepitope mapping. Mutation detection consisted of a combination of single nucleotide polymorphism-based whole-genome homozygosity mapping, Sanger sequencing, and gene-targeted next-generation sequencing. A total of 104 distinct mutations in COL7A1 were identified in 149 of 152 families (98%), 56 (53%) of them being previously unreported. Ninety percent of these mutations were homozygous recessive, reflecting consanguinity in these families. Three recurrent mutations were identified in five or more families, and haplotype analysis suggested a founder effect in two of them. In conclusion, COL7A1 harbored mutations in the overwhelming majority of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian cohort were consistent with autosomal recessive inheritance. The mutation profile attests to the impact of consanguinity in these families.

Zillikens, 2013), no associated malignancy was observed. In contrast, in lichen sclerosus, carcinomas of the genitalia and the skin were revealed (Powell and Wojnarowska, 1999). A possible drawback of this study is its reliance on the ICD-10 coding of doctors from different specialities. Although the large majority of autoimmune bullous diseases are diagnosed by dermatologists, coding of these disorders by non-dermatologists might have led to mistakes. On the basis of the coding of pemphigoid gestationis in one man and four female patients older than 50 years, the false-coding rate was estimated to be 4%. The present findings will be relevant for the future care of patients with autoimmune bullous disorders. Regardless of the reason for the higher incidence of cancer in some of these diseases, an increased awareness in combination with regular differential blood counts and inspection of the entire skin, as well as routinely performed gastroand coloscopy in patients with pemphigus vulgaris might be helpful to detect the associated malignancies as early as possible in the majority of patients.

No abstract

Background:The aim of this study is to evaluate the possible effects of removing the peroneus longus on the ankle and gait parameters, in order to add insufficient hamstring tendons for anterior cruciate ligament (ACL) reconstruction.Materials and Methods:In this controlled clinical trial, 375 patients with ACL rupture who underwent ACL reconstruction arthroscopically using hamstring tendons in the orthopedic clinics of Isfahan University of Medical Sciences in 2010 and 2011 were selected. Fifteen patients were included because their hamstring tendon diameter was lower than 8 mm and peroneus longus was added. After 6 months, the patients were followed using “Kistler force plate” to detect 3D kinematics and kinetics of the ankles and spatiotemporal walking parameters.Results:There was a significant difference between both operated and non-operated ankles in flexion/extension range of motion (P < 0.05). There was no significant difference between the moments of both ankles in sagittal and coronal planes (P > 0.05), but there was a significant difference between the moments of both ankles in the transverse plane (P = 0.006). There was a significant difference in the force of operated and non-operated ankles in all three planes (P < 0.05). There was no significant difference in the mean values of spatiotemporal gait parameters between operated and non-operated sides (P > 0.05).Conclusion:Removing the peroneus longus tendon has no effect on gait parameters and does not lead to instability of the ankle. So, it can be used as an autogenous graft in orthopedic surgeries.