Sweat retention anhidrosis associated with tubular aggregate myopathy

Br J Dermatol. 2019 Nov;181(5):1104-1106. doi: 10.1111/bjd.18175. Epub 2019 Aug 21.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Biopsy
  • Carboxy-Lyases / genetics*
  • Child, Preschool
  • DNA Mutational Analysis
  • Dermoscopy
  • Eczema / genetics*
  • Eczema / pathology
  • Humans
  • Hypohidrosis / genetics*
  • Hypohidrosis / pathology
  • Male
  • Muscle, Skeletal / pathology
  • Myopathies, Structural, Congenital / complications
  • Myopathies, Structural, Congenital / diagnosis*
  • Myopathies, Structural, Congenital / genetics
  • Myopathies, Structural, Congenital / pathology
  • ORAI1 Protein / genetics*
  • Skin / diagnostic imaging
  • Skin / pathology
  • Sweat Glands / pathology

Substances

  • ORAI1 Protein
  • ORAI1 protein, human
  • Carboxy-Lyases
  • pyrophosphomevalonate decarboxylase