Paraneoplastic pemphigus: A detailed case series from the Netherlands revealing atypical cases.
Journal
Journal of the European Academy of Dermatology and Venereology : JEADV
ISSN: 1468-3083
Titre abrégé: J Eur Acad Dermatol Venereol
Pays: England
ID NLM: 9216037
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
received:
15
03
2022
accepted:
27
07
2022
pubmed:
23
8
2022
medline:
16
12
2022
entrez:
22
8
2022
Statut:
ppublish
Résumé
Paraneoplastic pemphigus (PNP) is an extremely rare life-threatening blistering autoimmune disease that is associated with an underlying neoplasm. There is a set diagnostic criterion for PNP, which is primarily based on a severe stomatitis and the detection of specific antibodies against envoplakin, periplakin and alpha-2-macroglobulin-like protein 1. However, it has become increasingly evident that there are patients with PNP that do not meet all the diagnostic criteria requirements. The aim of this study was to analyse our cohort of Dutch patients and to define the atypical cases that did not meet the diagnostic criteria. A retrospective case study of all known Dutch PNP patients of the past 25 years. Patients' clinical and immunological variables were thoroughly analysed and described. Twenty-four patients were included in this study. The results revealed several atypical patient cases that did not completely meet the set diagnostic criteria. Of the 24 patients, two patients presented without stomatitis, in three patients an underlying neoplasm could not be detected, and in two patients the presence of specific autoantibodies could not be demonstrated, although all other criteria for PNP were met. Finally, three of the 24 patients survived the disease. Although our findings showed similarities to previous studies and most of the patients met the criteria, there were a few atypical patient cases; highlighting the importance of not strictly adhering to the set criteria when making a diagnosis, as this can lead to a missed or late diagnosis. Thus, it is of crucial importance to combine clinical and elaborate laboratory results to confirm the diagnosis of PNP in suspected patients. Although PNP harbours an unfavourable prognosis in most cases, it might be resolved by timely treatment of the underlying cause.
Sections du résumé
BACKGROUND
BACKGROUND
Paraneoplastic pemphigus (PNP) is an extremely rare life-threatening blistering autoimmune disease that is associated with an underlying neoplasm. There is a set diagnostic criterion for PNP, which is primarily based on a severe stomatitis and the detection of specific antibodies against envoplakin, periplakin and alpha-2-macroglobulin-like protein 1. However, it has become increasingly evident that there are patients with PNP that do not meet all the diagnostic criteria requirements.
OBJECTIVES
OBJECTIVE
The aim of this study was to analyse our cohort of Dutch patients and to define the atypical cases that did not meet the diagnostic criteria.
METHODS
METHODS
A retrospective case study of all known Dutch PNP patients of the past 25 years. Patients' clinical and immunological variables were thoroughly analysed and described.
RESULTS
RESULTS
Twenty-four patients were included in this study. The results revealed several atypical patient cases that did not completely meet the set diagnostic criteria. Of the 24 patients, two patients presented without stomatitis, in three patients an underlying neoplasm could not be detected, and in two patients the presence of specific autoantibodies could not be demonstrated, although all other criteria for PNP were met. Finally, three of the 24 patients survived the disease.
CONCLUSION
CONCLUSIONS
Although our findings showed similarities to previous studies and most of the patients met the criteria, there were a few atypical patient cases; highlighting the importance of not strictly adhering to the set criteria when making a diagnosis, as this can lead to a missed or late diagnosis. Thus, it is of crucial importance to combine clinical and elaborate laboratory results to confirm the diagnosis of PNP in suspected patients. Although PNP harbours an unfavourable prognosis in most cases, it might be resolved by timely treatment of the underlying cause.
Identifiants
pubmed: 35993495
doi: 10.1111/jdv.18557
pmc: PMC10087213
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
147-153Informations de copyright
© 2022 The Authors. Journal of the European Academy of Dermatology and Venereology published by John Wiley & Sons Ltd on behalf of European Academy of Dermatology and Venereology.
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