Pemphigus-like hypereosinophilic syndrome with FIP1L1-PDGFRA fusion gene: A challenging and uncommon clinical presentation

J Dermatol. 2019 Jun;46(6):531-534. doi: 10.1111/1346-8138.14888. Epub 2019 Apr 25.

Abstract

Hypereosinophilic syndrome (HES) is often associated with cutaneous manifestations, mostly pruritic lesions, urticaria and angioedema. Mucosal lesions are rarely seen in HES but, when present, are usually the first manifestation of the disease. The clinical presentation may be heterogeneous, including erosions, aphthae or ulcers, and can be easily confused with other mucocutaneous disorders. Here, we present the case of a 64-year-old man with severe chronic erosive oral mucositis simulating pemphigus in which the finding of persistent eosinophilia and elevation of B12 vitamin serum levels raised the suspicion of HES. The FIP1L1-PDGFRA fusion gene (4q12) was detected by fluorescence in situ hybridization and the patient was treated with imatinib mesylate with complete response of the disease.

Keywords: hypereosinophilic syndrome; imatinib; mucosal erosions; oral ulcers; pemphigus.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Hypereosinophilic Syndrome / diagnosis*
  • Hypereosinophilic Syndrome / drug therapy
  • Hypereosinophilic Syndrome / genetics
  • Hypereosinophilic Syndrome / immunology
  • Imatinib Mesylate / pharmacology
  • Imatinib Mesylate / therapeutic use*
  • In Situ Hybridization, Fluorescence
  • Male
  • Middle Aged
  • Mouth Mucosa / immunology
  • Mouth Mucosa / pathology
  • Oncogene Proteins, Fusion / antagonists & inhibitors
  • Oncogene Proteins, Fusion / genetics*
  • Pemphigus / diagnosis*
  • Receptor, Platelet-Derived Growth Factor alpha / antagonists & inhibitors
  • Receptor, Platelet-Derived Growth Factor alpha / genetics*
  • Severity of Illness Index
  • Stomatitis / diagnosis*
  • Stomatitis / drug therapy
  • Stomatitis / genetics
  • Stomatitis / immunology
  • Treatment Outcome
  • mRNA Cleavage and Polyadenylation Factors / antagonists & inhibitors
  • mRNA Cleavage and Polyadenylation Factors / genetics*

Substances

  • Oncogene Proteins, Fusion
  • mRNA Cleavage and Polyadenylation Factors
  • Imatinib Mesylate
  • FIP1L1-PDGFRA fusion protein, human
  • Receptor, Platelet-Derived Growth Factor alpha