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Article

Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation.

Dermatologic therapy - 1 Nov 2020

Behrangi Elham, Sadeghzadeh-Bazargan Afsaneh, Khosravi Sepehr, Shemshadi Mahsa, Youssefian Leila, Vahidnezhad Hassan, Goodarzi Azadeh, Uitto Jouni

Abstract excerpt

H syndrome is a complex multi-organ disorder with autosomal recessive inheritance. The skin manifestations include early onset hyperpigmentation and hypertrichosis, followed by skin induration often diagnosed as scleromyxedema and morphea. There is no effective treatment. Our objective was to study the efficacy of mycophenolate mofetil in a patient with genetically confirmed H syndrome. We sought the genetic...

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PMID: 33029882
DOI: 10.1111/dth.14375

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