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A 45-year-old woman comes to the office due to painful sores and blisters.  Three weeks ago, the patient developed painful sores inside her nose and mouth, which made it difficult for her to eat and swallow.  Two weeks later, she developed painful blisters on her trunk and extremities.  The patient has no chronic medical conditions and takes no medications.  Temperature is 36.8 C (98.2 F), blood pressure is 115/76 mm Hg, pulse is 82/min, and respirations are 14/min.  On examination, the nasal, buccal, and palatine mucosa reveal several erosions, as shown in the exhibit.  The skin shows scattered, large erosions and a few bullae on the chest, back, and extremities, with a background of normal-appearing skin.  Heart, lung, and abdominal examinations are normal.  Which of the following is the most likely diagnosis?

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Explanation:

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Pemphigus vulgaris vs bullous pemphigoid

Pemphigus vulgaris

Bullous pemphigoid

Age of onset

  • 40-60
  • >60

Clinical features

  • Painful
  • Flaccid bullae → erosions
  • Mucosal involvement common
  • Pruritic
  • Tense bullae
  • Mucosal involvement rare

Histology

  • Intraepidermal cleavage
  • Subepidermal cleavage

Immunofluorescence

  • Net-like intercellular IgG against desmosomes
  • Linear IgG against hemidesmosomes along basement membrane

This patient with painful mucocutaneous bullae and erosions has typical features of pemphigus vulgaris (PV), a life-threatening autoimmune blistering disease that results from a loss of cohesion between epidermal cells.

PV typically affects patients age 40-60.  Lesions are characterized by painful, flaccid bullae that easily rupture to form erosions, which may be the only lesions at the time of presentation.  Mucosal surfaces are almost always affected, with the oral mucosa being the most common initial site of involvement, as in this patient.  Cutaneous lesions typically follow and arise from a background of normal-appearing or erythematous skin.

The diagnosis of PV must be confirmed with a skin biopsy because therapy is often lifelong and involves agents with significant toxicity (eg, systemic corticosteroids, rituximab).  Serology for antibodies against desmosome components (ie, desmogleins 1 and 3) can further support the diagnosis.

(Choice A)  Bullous pemphigoid is an autoimmune blistering disease somewhat resembling PV.  It can cause blisters (which are tense vs flaccid in PV) and erosions; however, the lesions are pruritic rather than painful, patients are usually age >60, and the mucosa is rarely involved.

(Choice B)  Although oral aphthous ulcers can be a manifestation of Crohn disease, cutaneous manifestations of Crohn disease (ie, erythema nodosum, pyoderma gangrenosum) do not typically include bullae.

(Choice C)  Erosive oral lichen planus presents with painful ulcerations typically accompanied by white, reticular lesions (ie, Wickham striae) and erythema, which are both absent in this patient.  In addition, cutaneous lichen planus presents as pruritic, purple, polygonal papules and plaques, not as bullae and erosions.

(Choice D)  Granulomatosis with polyangiitis can cause oral and nasal ulcers; however, cutaneous findings consist of purpura caused by leukocytoclastic angiitis.

Educational objective:
Pemphigus vulgaris is a mucocutaneous autoimmune blistering disease typically occurring in patients age 40-60.  Lesions consist of painful, flaccid blisters that easily rupture, forming erosions.  The mucosa (eg, oral) is almost always involved, and these lesions typically precede cutaneous lesions.  A skin biopsy is required to confirm diagnosis.