Dowling-Degos disease is a rare autosomal dominant inherited pigmentary disorder characterized by reticulate pigmentation of the flexures, prominent comedone like lesions and pitted scars. Dyschromatosis universalis h...Dowling-Degos disease is a rare autosomal dominant inherited pigmentary disorder characterized by reticulate pigmentation of the flexures, prominent comedone like lesions and pitted scars. Dyschromatosis universalis hereditaria is characterized by the presence of hypopigmented as well as hyperpigmented macules. We report a family showing features of both these diseases.展开更多
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 ...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 y-secretase genes in two Chinese families with AI. Methods： In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with inultiple 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 including PSENEN, PSENI, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing. Results： Two novel mutations of PSENEN gene were identified, including a heterozygous missense mutation c. 194T〉G （p.L65R） and a splice site mutation c. 167-2A〉G. Conclusions： 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.展开更多
Introduction Dowling-Degos disease (DDD) was first described as a benign form of acanthosis nigricans by Dowling and Freudenthal in 1938, then referred to as'dermatose reticulée des plis'by Degos and Ossi...Introduction Dowling-Degos disease (DDD) was first described as a benign form of acanthosis nigricans by Dowling and Freudenthal in 1938, then referred to as'dermatose reticulée des plis'by Degos and Ossipowski in 1954, and was first named DDD by Wilson-Jones and Grice in 1978(1)The disease has been reported worldwide and affects both genders equally. As an autosomal dominant pigment disorder, it usually occurs in post-pubertal individuals, and is seldom seen in children(2)However, a Chinese newborn with DDD was reported in 2008(3)In this review, we summarize features of DDD, emphasizing advances in genetics research and looking to the future for further understanding of its etiology and the development of therapeutic methods.展开更多
文摘Dowling-Degos disease is a rare autosomal dominant inherited pigmentary disorder characterized by reticulate pigmentation of the flexures, prominent comedone like lesions and pitted scars. Dyschromatosis universalis hereditaria is characterized by the presence of hypopigmented as well as hyperpigmented macules. We report a family showing features of both these diseases.
基金This work was supported by grants from the National Natural Science Foundation of China （No. 81201221） and Beijing Municipal Natural Science Foundation （No. 7154247）.
文摘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 y-secretase genes in two Chinese families with AI. Methods： In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with inultiple 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 including PSENEN, PSENI, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing. Results： Two novel mutations of PSENEN gene were identified, including a heterozygous missense mutation c. 194T〉G （p.L65R） and a splice site mutation c. 167-2A〉G. Conclusions： 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.
基金the National Natural Science Foundation of China(81472872)the Project of Six Talent Peaks(WSN-126)the CAMS Innovation Fund for Medical Sciences(2016-I2M-1-002).
文摘Introduction Dowling-Degos disease (DDD) was first described as a benign form of acanthosis nigricans by Dowling and Freudenthal in 1938, then referred to as'dermatose reticulée des plis'by Degos and Ossipowski in 1954, and was first named DDD by Wilson-Jones and Grice in 1978(1)The disease has been reported worldwide and affects both genders equally. As an autosomal dominant pigment disorder, it usually occurs in post-pubertal individuals, and is seldom seen in children(2)However, a Chinese newborn with DDD was reported in 2008(3)In this review, we summarize features of DDD, emphasizing advances in genetics research and looking to the future for further understanding of its etiology and the development of therapeutic methods.
