Raynaud’s phenomenon is a symptom complex manifested as intermittent fingertip ischemia caused by cold or other sympathetic drivers.Secondary Raynaud’s phenomenon is often more severe and could even lead to finger u...Raynaud’s phenomenon is a symptom complex manifested as intermittent fingertip ischemia caused by cold or other sympathetic drivers.Secondary Raynaud’s phenomenon is often more severe and could even lead to finger ulceration,making it particularly complicated to treat.We describe a case of severe Raynaud’s phenomenon secondary to subclinical hypothyroidism lasting for more than 6 hours in a 65-year-old woman.The patient was also diagnosed with hypothyroidism,epilepsy,and secondary soft tissue infection of the right middle and ring fingers.After careful multidisciplinary consultation and discussion,the patient received vasodilation,anticoagulation,thyroxine supplementation,stellate ganglion block,hyperbaric oxygen therapy and debridement.The patient responded well to the medication,avoiding amputation or obviously dysfunction.Multidisciplinary team gathering the doctors from different departments proposes appropriate strategies for patients with severe Raynaud’s phenomenon and could improve the prognosis and satisfaction of patient effectively.展开更多
We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074 A > T nucleotide transition in the TNXB gene c...We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074 A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025 Val classified as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as diseasecausing. This gene variant was reported previously in a different 36-year-old patient who shared our patient's symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome(EDS). At the time of writing, a few mutations in the TNXB gene have been recognized as pathogenic causing EDS due to tenascin-X deficiency, but the variant identified in our patient has not been recognized as pathogenic in online genetic databases. Our case study in combination with peer-reviewed literature suggests that the 6074 A > T nucleotide transition in the TNXB gene may be classified as disease-causing for EDS due to tenascin-X deficiency.展开更多
文摘Raynaud’s phenomenon is a symptom complex manifested as intermittent fingertip ischemia caused by cold or other sympathetic drivers.Secondary Raynaud’s phenomenon is often more severe and could even lead to finger ulceration,making it particularly complicated to treat.We describe a case of severe Raynaud’s phenomenon secondary to subclinical hypothyroidism lasting for more than 6 hours in a 65-year-old woman.The patient was also diagnosed with hypothyroidism,epilepsy,and secondary soft tissue infection of the right middle and ring fingers.After careful multidisciplinary consultation and discussion,the patient received vasodilation,anticoagulation,thyroxine supplementation,stellate ganglion block,hyperbaric oxygen therapy and debridement.The patient responded well to the medication,avoiding amputation or obviously dysfunction.Multidisciplinary team gathering the doctors from different departments proposes appropriate strategies for patients with severe Raynaud’s phenomenon and could improve the prognosis and satisfaction of patient effectively.
基金Supported by The National Institute of Child Health and Human Development(NICHD),No.HD02528
文摘We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074 A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025 Val classified as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as diseasecausing. This gene variant was reported previously in a different 36-year-old patient who shared our patient's symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome(EDS). At the time of writing, a few mutations in the TNXB gene have been recognized as pathogenic causing EDS due to tenascin-X deficiency, but the variant identified in our patient has not been recognized as pathogenic in online genetic databases. Our case study in combination with peer-reviewed literature suggests that the 6074 A > T nucleotide transition in the TNXB gene may be classified as disease-causing for EDS due to tenascin-X deficiency.
