Pemphigus vulgaris - Anogenital in
See also in: Overview,Oral Mucosal LesionAlerts and Notices
Synopsis
The estimated incidence worldwide is 0.76-5 cases per million per year, although PV occurs in higher incidences in individuals of Jewish ancestry, as well as in certain geographic areas (Middle East, Southeastern Europe, and India). Variants of the ST18 gene have been found to confer increased risk of PV in some populations. PV is typically a disease of adults, with average age of onset between 40 and 60 years, but PV rarely can occur in childhood and young adulthood. There does not appear to be a consistent sex predilection.
Almost all patients with PV develop painful erosions on the oral mucosa, and individuals with the mucocutaneous type also develop flaccid bullae, erosions, and crusted erosions / plaques on the skin.
Oral mucosal involvement is more common than genital involvement. The larynx, esophagus, conjunctiva, nasopharynx, and urethra can be involved rarely. Genital involvement is usually observed in the setting of extensive mucocutaneous disease and, as such, is considered a marker of disease severity and associated with treatment resistance and poor prognosis. In a small study (n=34), 44% of women had genital involvement of PV, and it was primarily observed in patients with moderate-to-severe mucocutaneous disease. PV is rarely seen in isolation on genital skin.
Patients with genital involvement typically present with erosions that can occur on the labia majora, labia minora, cervix, vagina, and clitoris.
Codes
ICD10CM:L10.0 – Pemphigus vulgaris
SNOMEDCT:
49420001 – Pemphigus vulgaris
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Differential Diagnosis & Pitfalls
- IgG/IgA pemphigus – A rarely reported condition. Unclear whether it represents a separate entity or pemphigus vulgaris that is transitioning to IgA pemphigus. Clinical findings in a recently reported series resembled pemphigus vulgaris, pemphigus foliaceus, and IgA pemphigus. In IgG/IgA pemphigus, dapsone can be used as an ancillary treatment.
- Mucous membrane pemphigoid – Can be isolated to the vulva, or it may involve the vulva as part of a more generalized presentation.
- Bullous pemphigoid – This autoimmune bullous dermatosis is less likely to have genital involvement and can be distinguished by histological and immunofluorescence studies.
- Candidiasis
- Aphthous ulcers
- Behçet disease
- Herpes simplex virus (HSV) – The genital ulcerations may be diffuse but are composed of smaller lesions (1-2 mm) that coalesce. Unlike pemphigus, significant cutaneous involvement in genital herpes would be unusual.
- Reactive nonsexually related acute genital ulcers (RNSRAGU)
- Pemphigus foliaceus
- Paraneoplastic pemphigus – Associated with underlying neoplasms (non-Hodgkin lymphoma, chronic lymphocytic leukemia, Castleman disease, thymomas, sarcomas, Waldenström macroglobulinemia).
- Erythema multiforme
- Stevens-Johnson syndrome – Usually drug induced and accompanied by high fever, skin tenderness, mucosal erosions, and desquamation 1-3 weeks after starting the inciting medication.
- Epidermolysis bullosa acquisita
- Hailey-Hailey disease
- Contact dermatitis
- Lichen planus
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Therapy
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Drug Reaction Data
Below is a list of drugs with literature evidence indicating an adverse association with this diagnosis. The list is continually updated through ongoing research and new medication approvals. Click on Citations to sort by number of citations or click on Medication to sort the medications alphabetically.Subscription Required
References
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Last Reviewed:01/09/2022
Last Updated:02/16/2022
Last Updated:02/16/2022
Patient Information for Pemphigus vulgaris - Anogenital in
Overview
Pemphigus vulgaris (PV) is an autoimmune disease of the skin and mouth (mucous membrane). Autoantibodies attack molecules that essentially hold the skin cells together, causing them to separate and resulting in blisters. Pemphigus vulgaris is characterized by multiple lesions or blisters that do not heal, or that recur and spread to larger portions of the body. As many as 80% of the cases first exhibit symptoms in the mouth, and the mouth is sometimes the only site of lesions.Typically, those with pemphigus vulgaris will have multiple ulcers that persist for weeks to months. Blistering may be accompanied by severe pain, itching, burning, and stinging. If extensive, blistering can lead to life-threatening fluid loss, infection, and disfigurement. Fatalities from pemphigus vulgaris are extremely unlikely in the United States; however, timeliness of treatment is critical.
Pemphigus vulgaris is categorized as an ultra-rare disease, and, consequently, as many as 80% of cases are misdiagnosed for an average of 6 months. With treatment, lesions can heal normally without scarring. Most patients treated for pemphigus will enter a partial or full remission within 2-5 years.
Who’s At Risk
Pemphigus vulgaris affects men and women approximately equally. Although sometimes appearing in younger people, the average onset of symptoms is in those aged 50-60 years. Pemphigus vulgaris can occur in persons of any ethnicity, but the disorder tends to appear more often in persons of Mediterranean or Ashkenazi Jewish ancestry.Pemphigus vulgaris is categorized as an ultra-orphan disease (meaning it is very rare), affecting approximately 10 000-30 000 people in the United States.
Signs & Symptoms
Eighty percent of the time, symptoms begin in the mouth, with soft (flaccid) blisters or erosions, and these symptoms are often mistaken for other conditions of the mouth.Two-thirds of those affected with pemphigus vulgaris eventually experience lesions on both the skin and in the mouth.
If left untreated, the erosion/blisters gradually spread over an increasing surface area and can be complicated by severe infections, metabolic disturbances, or fluid loss.
Self-Care Guidelines
Self-care measures for pemphigus vulgaris are as follows:- Keep wounds clean – Be very gentle and do not use harsh cleansers.
- If bandaging is necessary, use bandages that provide moisture and protection, or keep the skin moist with sterile lotions. Silicone bandages, such as those used in burn centers, can be useful. Bandages should allow for airflow but protect against contaminants.
- Avoid touching ointment and bandages.
- Do not use bandages that are dry or stick to your skin.
- Avoid spicy foods (eg, garlic and onions) and nuts, which may help relieve symptoms.
- Antibiotic ointment or cream can help treat infection – An antibiotic that includes a local painkiller can bring some relief of pain associated with pemphigus vulgaris.
- Oral rinses and ointments can be used to reduce pain in the mouth.
When to Seek Medical Care
It is very important to get an accurate confirming diagnosis as soon as possible, so see your doctor if you display any of the signs or symptoms discussed here or suspect you might have pemphigus vulgaris. Early expert diagnosis is important, as pemphigus vulgaris – as with other autoimmune diseases – becomes more resistant to treatment if it is not promptly and appropriately controlled.Treatments
Diagnosis is confirmed through a biopsy of the skin or the inner lining of the mouth (oral mucosa). The tissue specimen is sent for a test called direct immunofluorescence. After a diagnosis is made, treatment begins with a period of intense therapy with corticosteroids (eg, prednisone) in an effort to gain control and suppress disease activity until no new lesions appear. The duration of this phase ranges from several weeks to months. Often, a second medication is added to allow lower doses of the corticosteroid and reduce associated side effects.After all lesions heal, medications can gradually be tapered, aiming for the lowest dose that prevents new "flares" of lesions from appearing.
If pemphigus vulgaris fails to respond to corticosteroids, results in unacceptable side effects, or is extensive or progressing rapidly, your doctor may add an immunosuppressant, IVIG treatment, plasmapheresis, or biologic agents.
Pemphigus vulgaris - Anogenital in
See also in: Overview,Oral Mucosal Lesion