Hereditary lactate dehydrogenase M-subunit deficiency with late-developing pustular psoriasis-like lesions

J Dermatol. 2016 Dec;43(12):1429-1432. doi: 10.1111/1346-8138.13516. Epub 2016 Jul 23.

Abstract

Hereditary lactate dehydrogenase (LDH) M-subunit deficiency is very rare and we have found reports of close to a dozen cases in the published work, two of which were associated with pustular psoriasis-like lesions. We report a third case of pustular psoriasis-like eruptions associated with LDH M-subunit deficiency, which occurred 24 years after the diagnosis of LDH M-subunit deficiency. These cases indicate that abnormal activity of LDH can induce pustular psoriatic lesions in the long term. Some patients with symptoms of hereditary LDH M-subunit deficiency have antecedent annular scaly plaque lesions, that resemble psoriatic lesions. We discuss a hypothesis to explain this scenario.

Keywords: nicotinamide adenine dinucleotide; lactate dehydrogenase; lactate dehydrogenase-M subunit deficiency; pellagra; pustular psoriasis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Sequence / genetics
  • Biopsy
  • Exons / genetics
  • Female
  • Glucocorticoids / therapeutic use
  • Humans
  • Immunohistochemistry
  • Isoenzymes / deficiency
  • Isoenzymes / genetics
  • L-Lactate Dehydrogenase / deficiency*
  • L-Lactate Dehydrogenase / genetics*
  • Lactate Dehydrogenase 5
  • Prednisolone / therapeutic use
  • Psoriasis / drug therapy
  • Psoriasis / genetics*
  • RNA, Messenger / genetics
  • Rare Diseases / genetics*
  • Sequence Analysis, DNA
  • Sequence Analysis, RNA
  • Sequence Deletion*
  • Skin / pathology
  • Time Factors
  • Valine / genetics

Substances

  • Glucocorticoids
  • Isoenzymes
  • RNA, Messenger
  • Prednisolone
  • L-Lactate Dehydrogenase
  • Lactate Dehydrogenase 5
  • Valine