Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II

J Dermatol. 2018 Nov;45(11):e308-e309. doi: 10.1111/1346-8138.14336. Epub 2018 Apr 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Biopsy
  • Chilblains / etiology*
  • Codon, Nonsense
  • Female
  • Fingers
  • Hereditary Sensory and Autonomic Neuropathies / complications*
  • Hereditary Sensory and Autonomic Neuropathies / diagnosis
  • Hereditary Sensory and Autonomic Neuropathies / genetics
  • Humans
  • Hyperhidrosis / etiology*
  • Skin / pathology
  • Skin Ulcer / etiology*
  • Toes
  • WNK Lysine-Deficient Protein Kinase 1 / genetics

Substances

  • Codon, Nonsense
  • WNK Lysine-Deficient Protein Kinase 1
  • WNK1 protein, human