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Description
A 54-year-old man with thymoma (figure 1A, arrow) diagnosed 8 months previously was referred to our hospital because of a 5-month history of painful oral ulcer and odynophagia. Physical examination showed erosion of the lips, pharynx, tongue and buccal mucosa (figure 1B, arrow), together with scrotal skin change (appearing similar to lichen planus; figure 1C, arrow heads) and scrotal erosion (figure 1C, arrow). On H&E staining, scrotum-biopsied specimens showed suprabasilar blisters with acantholysis (figure 1D, asterisk). On direct immunofluorescence, intercellular IgG and C3 deposits were noted, but not at the basement membrane. Indirect immunofluorescence studies of dilutions of the patient’s serum applied to a human skin substrate revealed circulating antibodies that bound to the intercellular regions (not to basement-membrane zones) of the epithelium at a titre of 1–160, whereas that applied to a rodent bladder substrate (negative control slides) did not. All serum antibodies to desmoplakin I and II, envoplakin and periplakin and desmoglein 1, were negative, but only serum desmoglein 3 antibody was positive on CLEIA (chemiluminescence enzyme immunoassay) (1:840) or ELISA (269.85).
Therefore, the patient was diagnosed as not paraneoplastic pemphigus (PNP) but pemphigus vulgaris (PV). In PV, antibodies to desmosomal proteins are associated with the detachment of keratinocytes from one another (ie, acantholysis), producing a suprabasal cleft, as in the present case. Whereas in PNP, antibodies to desmosomal and hemidesmosomal proteins are associated with both suprabasal and subepithelial clefting.
PNP and PV have similar clinical presentations but have different pathophysiologies1 ,2 in that (1) PV shows more favourable prognosis than PNP and (2) PNP often lead to pulmonary involvement. PNP is known to associate with diverse conditions such as Non-Hodgkin's lymphomas, chronic lymphocytic leucaemia, Castleman's disease, thymoma and Waldenstrom's macroglobulinaemia; however, PV should be considered even if those possible underlying diseases for which PNP is recognised.
Learning points
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Pemphigus vulgaris (PV), an albeit serious and even life-threatening condition, has generally more favourable prognosis than paraneoplastic pemphigus (PNP), which in turn may often lead to pulmonary involvement (PNP also affects other types of epithelia) and respiratory failure. Thus, the differentiation between the two is important.
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Along with PNP, PV should also be considered even if patients have diseases such as Non-Hodgkin's lymphomas, chronic lymphocytic leucaemia, Castleman's disease or thymoma.
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It is important to include experienced oral medicine/pathology specialist in diagnostic protocol of oral ulcerations for rapid diagnosis.
Acknowledgments
The authors thank Fumito Ishii and Takashi Hashimoto (Kurume University School of Medicine, Department of Dermatology) for immunological analysis with serum autoantibodies and also thank Dr Jun Hayakawa (Kyorin University School of Medicine, Department of Dermatology) for useful advice on interpreting the clinical findings.
Footnotes
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Contributors TS, CS and HG managed the patient in an inpatient setting. MF analysed the pathological findings.
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Competing interests None declared.
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Patient consent Obtained.
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Provenance and peer review Not commissioned; externally peer reviewed.