Dermatology · PANCE / PANRE

Pemphigus Vulgaris

Autoimmune intraepidermal blistering disease with flaccid bullae and painful mucosal erosions.

Also known as: pemphigus, PV, intraepidermal blistering disease

Overview

Autoimmune mucocutaneous blistering disorder caused by IgG autoantibodies against desmoglein 1 and 3, producing loss of keratinocyte adhesion (acantholysis) in the suprabasal epidermis. Flaccid bullae rupture easily, leaving painful erosions; oral mucosa is almost always involved.

Epidemiology

Rare (1-5 cases per million per year). Peak onset 40-60 years. Increased prevalence in Ashkenazi Jewish, Mediterranean, and South Asian populations. Associations with HLA-DR4 and HLA-DR14.

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Question 1DermatologyMedium
A 52-year-old woman of Ashkenazi Jewish descent presents with 3 months of painful oral erosions followed by flaccid bullae and raw, ragged-bordered erosions on her scalp, axillae, and trunk. The blisters rupture with minimal pressure, and lateral traction on adjacent normal-appearing skin produces shearing of the epidermis. A perilesional skin biopsy is sent for direct immunofluorescence. Which of the following findings best supports the suspected diagnosis?
  • AGranular IgA deposition within the tips of the dermal papillae
  • BIntercellular IgG and C3 deposition in a chicken-wire pattern
  • CLinear IgG and C3 deposition along the basement membrane zone
  • DSubepidermal separation with absent immunoreactant deposition
Reveal answer & full explanation
Correct answer: B — Intercellular IgG and C3 deposition in a chicken-wire pattern
  • AGranular IgA deposition within the tips of the dermal papillae
  • BIntercellular IgG and C3 deposition in a chicken-wire pattern
  • CLinear IgG and C3 deposition along the basement membrane zone
  • DSubepidermal separation with absent immunoreactant deposition

Why Intercellular IgG and C3 deposition in a chicken-wire pattern is correct

  • The vignette is classic pemphigus vulgaris: a middle-aged adult of Ashkenazi descent with painful oral erosions preceding flaccid cutaneous bullae and a positive Nikolsky sign (epidermal shearing on lateral pressure on perilesional skin).
  • PV is driven by IgG autoantibodies against desmoglein 1 and 3 within the desmosomes between keratinocytes, causing suprabasal acantholysis. Perilesional direct immunofluorescence therefore shows IgG and C3 deposited in the intercellular spaces of the epidermis, producing the characteristic net-like "chicken-wire" pattern.
  • This intercellular (not basement-membrane) localization is the confirmatory immunofluorescence finding; serum anti-desmoglein 1/3 ELISA further confirms the diagnosis and tracks disease activity.

Why the others are wrong

  • Linear IgG and C3 deposition along the basement membrane zone — This is the DIF pattern of bullous pemphigoid (anti-BP180/230), which causes tense subepidermal bullae on flexural skin with pruritus and usual mucosal sparing, the opposite localization from PV.
  • Granular IgA deposition within the tips of the dermal papillae — This is the finding of dermatitis herpetiformis, an intensely pruritic vesicular eruption linked to celiac disease, not an acantholytic mucocutaneous blistering disorder.
  • Subepidermal separation with absent immunoreactant deposition — A subepidermal split without intercellular IgG points to a non-immune or pemphigoid-group subepidermal process rather than the suprabasal acantholysis with intercellular IgG seen in PV.
Question 2DermatologyMedium
A 54-year-old man with biopsy-confirmed pemphigus vulgaris has widespread flaccid bullae and raw erosions covering roughly 40% of his trunk and scalp, plus painful oral erosions. He was started on high-dose prednisone two weeks ago. He now presents with fever to 39.1°C, tachycardia, and hypotension. The eroded skin is malodorous with purulent, crusted borders. Which of the following complications is most likely responsible for his deterioration?
  • AAvascular necrosis of the femoral head
  • BSepsis from secondary cutaneous infection
  • CUnderlying lymphoproliferative malignancy
  • DEsophageal stricture from mucosal scarring
Reveal answer & full explanation
Correct answer: B — Sepsis from secondary cutaneous infection
  • AAvascular necrosis of the femoral head
  • BSepsis from secondary cutaneous infection
  • CUnderlying lymphoproliferative malignancy
  • DEsophageal stricture from mucosal scarring

Why Sepsis from secondary cutaneous infection is correct

  • The denuded epidermis in pemphigus vulgaris is a large open wound that loses its barrier function, so extensive erosions are readily colonized and invaded by skin flora (Staphylococcus aureus, Streptococcus, gram-negatives).
  • Secondary bacterial infection of erosions progressing to sepsis is the leading cause of death in pemphigus vulgaris; modern mortality is under 10%, and most of those deaths are infectious.
  • High-dose corticosteroids (and other immunosuppression) further blunt the immune response, and the fever, tachycardia, hypotension, and purulent malodorous erosions here point to wound-derived sepsis.

Why the others are wrong

  • Esophageal stricture from mucosal scarring is a recognized late, chronic complication of mucosal disease, but it causes dysphagia over time, not acute fever and hemodynamic collapse.
  • Avascular necrosis of the femoral head is a long-term corticosteroid complication causing hip pain after prolonged therapy, not an acute septic presentation two weeks into treatment.
  • Underlying lymphoproliferative malignancy defines paraneoplastic pemphigus (anti-plakin antibodies, severe stomatitis, CLL/NHL/Castleman), not classic biopsy-confirmed pemphigus vulgaris, and would not explain acute infected erosions.
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Risk factors

  • Genetic predisposition (HLA-DRB1*04, DRB1*14)
  • Drug-induced: penicillamine, captopril, rifampin, NSAIDs
  • Other autoimmune disease (myasthenia gravis, thymoma)
  • Middle-aged adults of Mediterranean or Ashkenazi descent

Pathophysiology

IgG4 autoantibodies against desmoglein 3 (mucosa-dominant) or both desmoglein 1 and 3 (mucocutaneous) disrupt desmosomal adhesion between keratinocytes. The resulting acantholysis produces flaccid intraepidermal blisters that rupture, leaving raw erosions prone to secondary infection and fluid/protein loss.

Clinical presentation

Symptoms

  • Painful, persistent oral erosions (often the presenting symptom, precede skin disease by months)
  • Burning, painful skin lesions rather than itch
  • Dysphagia, odynophagia, weight loss from oropharyngeal involvement
  • Hoarseness if laryngeal involvement

Signs / physical exam

  • Flaccid bullae that rupture easily on scalp, face, axillae, groin, trunk
  • Erosions with ragged borders, slow to heal, may crust
  • Positive Nikolsky sign (lateral pressure on perilesional skin produces shearing)
  • Positive Asboe-Hansen sign (pressure on intact bulla extends it peripherally)

Classic findings

Painful oral erosions preceding flaccid cutaneous bullae in a middle-aged adult; positive Nikolsky.

Differential diagnosis

  • Bullous pemphigoid — Tense subepidermal bullae on flexural skin, intense pruritus, mucosa usually spared, elderly; anti-BP180/230 antibodies; linear C3 + IgG along basement membrane
  • Paraneoplastic pemphigus — Severe stomatitis, polymorphic skin lesions, underlying lymphoproliferative malignancy (CLL, NHL, Castleman disease); antibodies against multiple plakin proteins
  • Stevens-Johnson syndrome / TEN — Acute febrile drug reaction, dusky targetoid macules, full-thickness epidermal necrosis, mucosal involvement, positive Nikolsky on inflamed skin only
  • Mucous membrane pemphigoid — Scarring erosions of mucosa (oral, ocular, genital), risk of blindness and esophageal strictures; subepithelial split
  • Erythema multiforme major — True targetoid lesions, post-HSV or Mycoplasma, limited mucosal involvement, self-limited
  • Aphthous stomatitis — Recurrent small round ulcers limited to non-keratinized oral mucosa; no skin involvement; not progressive

Diagnostic workup

Diagnostic criteria

Diagnosis requires clinical findings plus histology and immunofluorescence. Lesional biopsy: suprabasal acantholysis with 'tombstone' row of basal cells. Perilesional direct immunofluorescence (DIF): intercellular 'chicken-wire' IgG and C3 deposition. Serum anti-desmoglein antibodies confirm and track activity.

Labs

  • Serum indirect immunofluorescence and ELISA for anti-desmoglein 1 and 3 IgG (titers correlate with disease activity)
  • CBC, CMP, baseline glucose, hepatitis B/C, TB screen prior to immunosuppression
  • Wound cultures from eroded skin if secondary infection suspected

Imaging

  • No routine imaging required
  • Esophagogastroduodenoscopy if dysphagia or odynophagia suggests esophageal involvement
  • Chest imaging and age-appropriate cancer screening to exclude paraneoplastic pemphigus in atypical cases

Diagnostic algorithm

FeaturePemphigus VulgarisBullous Pemphigoid
Age40-60>60
Bulla typeFlaccid, ruptures easilyTense, intact
Mucosal involvementAlmost always (often first)Rare (10-30%)
PruritusPain > itchIntense itch
Histology splitIntraepidermal (suprabasal)Subepidermal
Target antigenDesmoglein 1 and 3BP180 (BPAG2), BP230 (BPAG1)
DIF patternIntercellular 'chicken-wire' IgG/C3Linear IgG/C3 at basement membrane
Nikolsky signPositiveNegative (usually)
Mortality untreatedHigh (60-90%)Lower but morbid
Pemphigus vulgaris vs bullous pemphigoid — key clinical and immunopathologic distinctions.

Treatment

First-line

  • Systemic corticosteroid: prednisone 1 mg/kg/day, methylprednisolone IV for severe disease; taper slowly over months
  • Rituximab (anti-CD20) — now first-line with steroids per 2020 international consensus and Joly et al. 2017 RITUX 3 trial; 1 g IV days 0 and 14 (rheumatoid arthritis dosing) or 375 mg/m² weekly × 4 (lymphoma dosing)
  • Wound care: nonadherent dressings, gentle cleansing, treatment of secondary bacterial infection (mupirocin topical, oral cephalexin or doxycycline)
  • Nutritional support, soft diet, viscous lidocaine and 'magic mouthwash' for oral pain

Second-line / adjunct

  • Steroid-sparing agents: azathioprine (check TPMT first), mycophenolate mofetil, methotrexate, cyclophosphamide (severe refractory)
  • IVIG 2 g/kg per cycle for refractory disease or when immunosuppression contraindicated
  • Plasmapheresis or immunoadsorption for fulminant disease
  • Dapsone (mainly for IgA pemphigus variant)

Complications

  • Secondary bacterial infection of erosions; sepsis
  • Fluid, electrolyte, and protein loss (similar to burns in extensive disease)
  • Steroid-related morbidity (osteoporosis, diabetes, infections, AVN)
  • Esophageal stricture; laryngeal scarring; chronic ocular involvement
  • Mortality historically 60-90% pre-steroids; now <10% with modern therapy, mostly from infection

PANCE pearls

  • Positive Nikolsky sign is shared with TEN and SSSS; combine with clinical context and biopsy.
  • Oral lesions almost always precede skin disease — unexplained chronic oral erosions in a middle-aged adult should prompt biopsy.
  • Desmoglein 3 antibodies → mucosal disease; addition of desmoglein 1 antibodies → mucocutaneous disease.
  • Always exclude paraneoplastic pemphigus in patients with severe stomatitis or hematologic malignancy.
  • Rituximab has shifted PV from a chronic steroid-dependent disease toward durable remission in many patients.

References

  • AAD/EADV 2020 — Updated S2K guidelines on the management of pemphigus vulgaris (Joly et al., JEADV 2020)
  • RITUX 3 Trial — First-line rituximab combined with short-term prednisone versus prednisone alone for pemphigus (Joly et al., Lancet 2017)
  • International Panel — Consensus statement on definitions of disease, end points, and therapeutic response for pemphigus (Murrell et al., JAAD 2008)

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