The Experts below are selected from a list of 1989 Experts worldwide ranked by ideXlab platform
Alex Reyentovich - One of the best experts on this subject based on the ideXlab platform.
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Peripheral Phenomena in a Woman With Calcinosis, Raynaud Phenomenon, Esophageal Dysmotility, Sclerodactyly, and Telangiectasia (CREST) Syndrome–Associated Pulmonary Hypertension
Circulation, 2012Co-Authors: Todd S. Cutler, Alex ReyentovichAbstract:An 84-year-old woman with a history of CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, Sclerodactyly, and telangiectasia) variant scleroderma and gastroesophageal reflux disease presented with progressive shortness of breath over 2 months. Her previous surgeries included a bilateral sympathotomy for …
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peripheral phenomena in a woman with calcinosis raynaud phenomenon esophageal dysmotility Sclerodactyly and telangiectasia crest syndrome associated pulmonary hypertension
Circulation, 2012Co-Authors: Todd S. Cutler, Alex ReyentovichAbstract:An 84-year-old woman with a history of CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, Sclerodactyly, and telangiectasia) variant scleroderma and gastroesophageal reflux disease presented with progressive shortness of breath over 2 months. Her previous surgeries included a bilateral sympathotomy for …
Hiroko Kanda - One of the best experts on this subject based on the ideXlab platform.
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Progressive facial hemiatrophy complicated by Sclerodactyly, Raynaud’s phenomenon, anti-ribonucleoprotein antibody, and trigeminal nerve disturbance
Modern rheumatology, 2005Co-Authors: Ken Hamasaki, Kanae Kubo, Hiroko KandaAbstract:A Japanese woman was diagnosed as having progressive facial hemiatrophy when she was 26 years old. After 30 years, Raynaud’s phenomenon and Sclerodactyly suddenly appeared; at the same time, positive rheumatoid factor and anti-ribonucleoprotein (anti-RNP) antibody were noted on serological examinations. When she was 60 years old, trigeminal nerve disturbance also appeared. The associations between progressive facial hemiatrophy, systemic scleroderma, and trigeminal nerve disturbance are interesting and should be discussed.
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progressive facial hemiatrophy complicated by Sclerodactyly raynaud s phenomenon anti ribonucleoprotein antibody and trigeminal nerve disturbance
Modern Rheumatology, 2005Co-Authors: Ken Hamasaki, Kanae Kubo, Hiroko KandaAbstract:A Japanese woman was diagnosed as having progressive facial hemiatrophy when she was 26 years old. After 30 years, Raynaud’s phenomenon and Sclerodactyly suddenly appeared; at the same time, positive rheumatoid factor and anti-ribonucleoprotein (anti-RNP) antibody were noted on serological examinations. When she was 60 years old, trigeminal nerve disturbance also appeared. The associations between progressive facial hemiatrophy, systemic scleroderma, and trigeminal nerve disturbance are interesting and should be discussed.
Todd S. Cutler - One of the best experts on this subject based on the ideXlab platform.
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Peripheral Phenomena in a Woman With Calcinosis, Raynaud Phenomenon, Esophageal Dysmotility, Sclerodactyly, and Telangiectasia (CREST) Syndrome–Associated Pulmonary Hypertension
Circulation, 2012Co-Authors: Todd S. Cutler, Alex ReyentovichAbstract:An 84-year-old woman with a history of CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, Sclerodactyly, and telangiectasia) variant scleroderma and gastroesophageal reflux disease presented with progressive shortness of breath over 2 months. Her previous surgeries included a bilateral sympathotomy for …
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peripheral phenomena in a woman with calcinosis raynaud phenomenon esophageal dysmotility Sclerodactyly and telangiectasia crest syndrome associated pulmonary hypertension
Circulation, 2012Co-Authors: Todd S. Cutler, Alex ReyentovichAbstract:An 84-year-old woman with a history of CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, Sclerodactyly, and telangiectasia) variant scleroderma and gastroesophageal reflux disease presented with progressive shortness of breath over 2 months. Her previous surgeries included a bilateral sympathotomy for …
Paola Grammatico - One of the best experts on this subject based on the ideXlab platform.
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palmoplantar keratoderma pseudo ainhum and universal atrichia a new patient and review of the palmoplantar keratoderma congenital alopecia syndrome
American Journal of Medical Genetics Part A, 2010Co-Authors: Marco Castori, Michele Valiante, Marco Ritelli, Nicoletta Preziosi, Marina Colombi, Mauro Paradisi, Paola GrammaticoAbstract:Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, Sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Non-specific additional findings comprised mild nail dystrophy and widespread keratosis pilaris including ulerythema ophryogenes. Direct sequencing of the GJB2 and LOR coding regions yielded normal results. A review identified two additional sporadic and four familial cases with PPK and CA. Comparison between familial cases suggested the existence of two genetically and phenotypically distinct types of PPK-CA: (i) an autosomal dominant form (Stevanovic type), a variable and benign phenotype without significant hand complications, and (ii) a more complex autosomal recessive variant (Wallis type) with contractures, Sclerodactyly, and pseudo-ainhum. Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK-CA. Further reports are required to test this preliminary conclusion.
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Palmoplantar keratoderma, pseudo‐ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma‐congenital alopecia syndrome
American Journal of Medical Genetics Part A, 2010Co-Authors: Marco Castori, Michele Valiante, Marco Ritelli, Nicoletta Preziosi, Marina Colombi, Mauro Paradisi, Paola GrammaticoAbstract:Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, Sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Non-specific additional findings comprised mild nail dystrophy and widespread keratosis pilaris including ulerythema ophryogenes. Direct sequencing of the GJB2 and LOR coding regions yielded normal results. A review identified two additional sporadic and four familial cases with PPK and CA. Comparison between familial cases suggested the existence of two genetically and phenotypically distinct types of PPK-CA: (i) an autosomal dominant form (Stevanovic type), a variable and benign phenotype without significant hand complications, and (ii) a more complex autosomal recessive variant (Wallis type) with contractures, Sclerodactyly, and pseudo-ainhum. Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK-CA. Further reports are required to test this preliminary conclusion.
Ken Hamasaki - One of the best experts on this subject based on the ideXlab platform.
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Progressive facial hemiatrophy complicated by Sclerodactyly, Raynaud’s phenomenon, anti-ribonucleoprotein antibody, and trigeminal nerve disturbance
Modern rheumatology, 2005Co-Authors: Ken Hamasaki, Kanae Kubo, Hiroko KandaAbstract:A Japanese woman was diagnosed as having progressive facial hemiatrophy when she was 26 years old. After 30 years, Raynaud’s phenomenon and Sclerodactyly suddenly appeared; at the same time, positive rheumatoid factor and anti-ribonucleoprotein (anti-RNP) antibody were noted on serological examinations. When she was 60 years old, trigeminal nerve disturbance also appeared. The associations between progressive facial hemiatrophy, systemic scleroderma, and trigeminal nerve disturbance are interesting and should be discussed.
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progressive facial hemiatrophy complicated by Sclerodactyly raynaud s phenomenon anti ribonucleoprotein antibody and trigeminal nerve disturbance
Modern Rheumatology, 2005Co-Authors: Ken Hamasaki, Kanae Kubo, Hiroko KandaAbstract:A Japanese woman was diagnosed as having progressive facial hemiatrophy when she was 26 years old. After 30 years, Raynaud’s phenomenon and Sclerodactyly suddenly appeared; at the same time, positive rheumatoid factor and anti-ribonucleoprotein (anti-RNP) antibody were noted on serological examinations. When she was 60 years old, trigeminal nerve disturbance also appeared. The associations between progressive facial hemiatrophy, systemic scleroderma, and trigeminal nerve disturbance are interesting and should be discussed.