Pathogenic variants in the EDARADD gene result in autosomal recessive and autosomal dominant ectodermal dysplasia. This article reports on the fourth family in the world with ectodermal dysplasia 11A (ECTD11A) cause from a novel splicing variant in the EDARADD gene, identified by whole exome sequencing and confirmed by Sanger sequencing. The proband and his mother were heterozygous for the detected variant (NM_145861.4:c.161‐2A>T). The proband manifests unusual symptoms including hyperkeratotic plaques, slow‐growing hair, recurrent infection, and pectus excavatum. His mother presents hypohidrosis, extensive tooth decay, fragile nails, and sparse hair. Further studies on ECTD11A patients could be useful to characterizing the phenotype features more precisely.
Although antibiotics are among the most commonly used treatments of acne, there are refractory cases, or they can cause some complications. Recently, leukotriene B4 has been found to play a major role in inflammatory acne lesions. This double blind, randomized clinical trial was conducted on 108 patients with acne who needed systemic therapy and referred to dermatology clinics affiliated to Shiraz University of Medical Sciences. One group (53 patients) received 100 mg doxycycline daily plus placebo and the other group (55 patients) received 100 mg daily doxycycline plus 10 mg daily montelukast. Both groups also received topical benzoyl peroxide 5%
Background: Skin cancer is the most common cancer in the world. The aim of this study was to evaluate the quality of life (QoL) of both patients with non-melanoma skin cancer and their relatives.Methods: This is an analytical cross-sectional study on patients with non-melanoma skin cancer and their first-degree relatives referred to dermatology clinic of Faghihi Hospital, Shiraz, Iran, 2018. Accordingly, patients and one of their companions were considered as the study group. Their responses to the questionnaires of Dermatology Life Quality Index and Family Dermatology Life Quality Index were analyzed using SPSS software, version 18. Results: The QoL of the patients enrolled in this study was relatively good. The mean of the QoL score for patients with non-melanoma skin cancer was 10.5 ± 6.2 for men and 13.2 ± 7.2 for women which showed a statistically significant difference (P = 0.027). In the patient's companion group, the mean of their QoL scores were 9.4 ± 5.6 in men and 10.9 ± 6.0 in women with no statistically significant difference (P = 0.149).In addition, the QoL in both groups were not related to the type of skin cancer, sex and family relations. Conclusion: The results of this study showed that the overall QoL of the patients and their relatives was moderate. However, a plan for improving QoLs of both groups should be considered as a part of the illness management.
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