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Novel Mutations inGene in Two Chinese Acne Inversa Families Manifested as Familial Multiple comedones and Dowling-Degos Disease

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中华医学杂志(英文版) 2016年第23期 2834-2839页

Background: Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with ***: In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with multiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs. Reticulate pigmentation in the flexures areas resembled Dowling-Degos disease clinically and pathologically. In addition, one of the affected individuals developed anal canal squamous cell carcinoma. Molecular mutation analysis of γ-secretase genes includingPSENEN,PSEN1, andNCSTN was performed by polymerase chain reaction and direct DNA ***: Two novel mutations ofPSENEN gene were identified, including a heterozygous missense mutation c.194T>G (p.L65R) and a splice site mutation c.167-2A>***: The identification of the two mutations could expand the spectrum of mutations in the γ-secretase genes underlying AI and provide valuable information for further study of genotype-phenotype correlations.

关键词： Acne Inversa comedones Dowling-Degos Disease Hidradenitis Suppurativa PSENEN Squamous Cell Carcinoma

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Noni Seed Oil Topical Safety, Efficacy, and Potential Mechanisms of Action

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Journal of Cosmetics, Dermatological Sciences and Applications 2012年第2期2卷 74-78页

作者： Afa K. Palu Brett J. West C. Jarakae Jensen Research and Development Department Morinda Inc. American Fork USA

Background: Noni fruit and leaf juices were used to treat acne in Polynesian folk medicine. However, the potential benefit of noni seed oil (NSO) for human skin health is not as well known. Objective: The topical safety of NSO was evaluated in a repeat insult patch test with 49 adult volunteers. Comedogenicity was evaluated in 23 adolescent volunteers for four weeks. Anti-inflammatory activity was determined in-vitro with COX-2 and 5-LOX enzyme inhibition assays. Results: No reactions to NSO were observed in any of the volunteers. NSO also reduced the number of open and closed comedones in the comedogenicity test. NSO inhibited COX-2 and 5-LOX enzymes in a concentration dependent manner, but with COX-2 inhibition being more pronounced than 5-LOX. Conclusion: Noni seed oil is safe for topical use and is non-comedogenic. It also has potential anti-inflammatory activity, being a dual inhibitor of COX-2 and 5-LOX enzymes. These results indicate the potential utility of NSO for skin care applications, as well as warrant further investigation of efficacy in 5-LOX and COX-2 related pathophysiological conditions.

关键词： Morinda citrifolia Noni Seed Oil COX-2 5-LOX comedones Safety

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Favre-Racouchot syndrome associated with eyelid papilloma:a case report

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The Journal of Biomedical Research 2012年第6期26卷 474-477页

作者： Ruzhi Zhang Wenyuan Zhu Department of Dermatology the First Affiliated Hospital of Bengbu Medical College Bengbu Anhui 233004 China Department of Dermatology the First Affiliated Hospital of Nanjing Medical University Nanjing Jiangsu 210029 China

A 55-year-old Chinese man presented with an asymptomatic pedunculated elevation on his left lower eyelid which had been gradually increasing in size during the past three years. The patient was diagnosed with eyelid papilloma by pathological examination. Concomitantly, the patient developed open comedones with a bilateral linear distribution, along with oblique wrinkle lines in his infraorbital regions. These lesions were noninflamma- tory and remained unchanged for two years. To the best of our knowledge, this distribution of open comedones, especially in combination with eyelid papilloma, has not been reported previously in Favre-Racouchot syndrome.

关键词： Favre-Racouchot syndrome eyelid papilloma bilateral comedones linear

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