Intralesional sodium thiosulfate treatment of calcinosis cutis in pseudopseudohypoparathyroidism.
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DOI: 10.1111/pde.14956
Abstract: Pseudopseudohypoparathyroidism is an imprinted GNAS spectrum disorder that induces the phenotype of Albright's hereditary osteodystrophy. This phenotype often involves the formation of calcinosis cutis: firm, painful cutaneous eruptions, which are classically difficult to treat. Intralesional… read more here.
Keywords: calcinosis; calcinosis cutis; intralesional sodium; sodium thiosulfate ... See more keywords
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
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DOI: 10.3803/enm.2018.33.2.252
Abstract: Background Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and… read more here.
Keywords: pthlh; novel mutation; type; pseudopseudohypoparathyroidism ... See more keywords