Pemphigus

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Key diagnostic factors

common

presence of risk factors

Key risk factors include HLA DR4, HLA DQ1 in pemphigus vulgaris (PV), and HLA DRB1 and underlying malignancy in paraneoplastic pemphigus (PNP).

chronic erosive blistering of the skin, mucosa, or both

Pemphigus foliaceus (PF) is usually confined to the skin. PV and PNP can involve the skin and mucosal surfaces of the eyes, mouth, nasopharynx, and oesophagus.

chronic mouth erosions (PV, PNP)

Mouth involvement is a key diagnostic feature of pemphigus vulgaris (PV) and paraneoplastic pemphigus (PNP). In PV, there may be superficial erosions of the mouth mucosa that include the buccal and gingival mucosa, as well as the hard and soft palate. The tongue can be involved.

painful lips (PNP)

Intractable mucositis is a hallmark of paraneoplastic pemphigus (PNP). The lips are prominently involved, with a pronounced exfoliative mucositis.

shortness of breath (PNP)

Paraneoplastic pemphigus (PNP) is often associated with a type of bronchiolitis obliterans pneumonia.

Other diagnostic factors

common

pruritic scalp (PV, PF)

Pemphigus foliaceus (PF) can involve the entire surface of the skin, but is often prominent over the scalp in a seborrhoeic distribution. In both PV and PF, the patient may report pruritus of the scalp with superficial sores and erosions.

bloody nose (PV, PNP)

Both pemphigus vulgaris (PV) and paraneoplastic pemphigus (PNP) can involve the nasal mucosa.

painful skin (PV, PF, PNP)

In pemphigus vulgaris (PV), pemphigus foliaceus (PF), and paraneoplastic pemphigus (PNP), skin lesions may be painful.

Painful lesions are most commonly reported in PNP.

uncommon

dysphagia (PV)

Pemphigus vulgaris (PV) can cause erosive oesophagitis with difficulty/pain on swallowing. Patients may report coughing up segments of the oesophageal mucosa.

Oesophagitis is not common except in severe cases of PV.

pruritic skin (PV, PF)

Pruritus is more common in pemphigus vulgaris (PV) and pemphigus foliaceus (PF) after it is partially controlled with treatment.

conjunctivitis (PV, PNP)

Pemphigus vulgaris (PV) can cause lesions on the ocular conjunctiva.

Paraneoplastic pemphigus (PNP) may lead to a scarring conjunctivitis suggestive of mucous membrane pemphigoid (i.e., a cicatricial conjunctivitis).

Risk factors

strong

increasing age

Most patients who develop pemphigus vulgaris, the most frequently occurring form of pemphigus, are aged >40 years.[5][7][8]

HLA DR4 (PV)

Pemphigus vulgaris (PV) is associated with DR4 in Ashkenazi Jews. A rare subtype is (DRB1*0402).[27]

In a Jewish population in the US (predominantly Ashkenazi Jews), the reported pemphigus incidence was 32 cases per million per year.[6]

HLA DQ1 (PV)

In other populations, PV is associated with DQ1 (rare subtype DQB1*0503).[27]

HLA DRB1 (PNP)

Paraneoplastic pemphigus (PNP) is associated with DRB1*03.[27]

associated malignancy (PNP)

In one third of patients, PNP is a marker for unknown malignancy. In young people it is typically associated with non-human herpes virus 8 Castleman's disease, and in older people with a history of non-Hodgkin's lymphoma, chronic lymphocytic leukaemia, thymoma, and rare sarcomas.[4]