Anhalt et al[1] first described paraneoplastic pemphigus in 1990. The authors reported five patients with underlying neoplasms who developed oral erosions and bullous skin eruptions. Skin biopsy samples showed both suprabasal acantholysis and interface dermatitis. Direct immunofluorescence (DIF) testing and indirect immunofluorescence (IDIF) testing revealed intraepidermal intercellular staining with immunoglobulin G (IgG); DIF testing also revealed deposition of complement at the dermoepidermal junction (see the image below). By immunoprecipitation, target antigens were identified from skin extracts with molecular weights of 250, 230, 210, and 190 kd. Since then, many patients with paraneoplastic pemphigus have been reported, and patients previously believed to have other diseases have been retrospectively diagnosed.
View Image | Direct immunofluorescence microscopy performed on epithelial biopsy specimen obtained from a patient with pemphigus vulgaris detects immunoglobulin G .... |
A summary of the original criteria for the diagnosis of paraneoplastic pemphigus includes the following:
Because not all patients demonstrate these original criteria, Anhalt[2] has proposed the following new, minimal criteria for the diagnosis of paraneoplastic pemphigus:
Paraneoplastic pemphigus is rare, and, while the exact incidence is unknown, it is likely underreported. In 2010, 450 cases were reported in the literature.[3] There is an association between paraneoplastic pemphigus and HLA class II DRB I*03 and HLA-Cw*14 (in Chinese patients).[4, 5]
Hematologic malignancies are most commonly associated with paraneoplastic pemphigus, although it can also be associated with carcinomas, sarcomas, and benign neoplasms.
Unlike other forms of pemphigus, paraneoplastic pemphigus affects organ systems other than the integument. Thus, the term "paraneoplastic autoimmune multiorgan syndrome", or "PAMS", has been suggested as a more appropriate name for the syndrome.[6]
Paraneoplastic pemphigus is an autoimmune disorder initiated by an underlying neoplasm. Tumor antigens are hypothesized to evoke both a humoral and a cellular immune response that leads to blistering in mucosa and other epithelia. Affected organ systems include the integument, respiratory tract, and gastrointestinal tract. A patient with renal and neurologic involvement has been reported.[7]
Passive transfer of paraneoplastic pemphigus sera causes blistering in neonatal mice, proving that the antibodies present are pathogenic.[1] Paraneoplastic pemphigus patients exhibit many different autoantibodies to proteins of the plakin family, an intracellular component of desmosomes and hemidesmosomes, including envoplakin (210-kd), periplakin (190-kd), bullous pemphigoid antigen I (230-kd), desmoplakin I (250-kd), desmoplakin II (210-kd), plectin (500-kd), and alpha2-macroglobulin-like–1 (170-kd). They can also exhibit antibodies to antigens associated with pemphigus vulgaris (desmoglein 3, 130-kd) and pemphigus foliaceus (desmoglein 1, 160-kd), as well as several others, including epiplakin.[8] Antibodies are typically IgG, although IgA has been reported.[9]
In a 2011 review, Czernik et al. summarize the increasing role of cellular immunity in paraneoplastic pemphigus, evidenced by lesional mononuclear cells and elevated IL-6 levels in sera from paraneoplastic pemphigus patients.[6] Patients with paraneoplastic pemphigus without identifiable autoantibodies have been reported,[10, 11, 12] as has a patient with lichenoid paraneoplastic pemphigus who lacked autoantibodies initially but developed them later in their course.[13] It has been postulated that the diagnosis of paraneoplastic pemphigus is declining, owing to treatment of the associated malignancies with anti-CD20 antibodies, which reduce the humoral response and lead to unrecognized T-cell–mediated lichenoid eruptions.[14]
The association of paraneoplastic pemphigus with malignancy is strong. Patients have had benign neoplasms, including thymoma and Castleman disease. Castleman disease is a common association in children. Only a single patient without a tumor has met the diagnostic criteria, yet this patient had a rapid demise and may have died with an undiagnosed malignancy. Patients have developed paraneoplastic pemphigus while in remission of their malignancy, leading some authors to prefer the term neoplasia-induced pemphigus.[15]
Treatment of the underlying malignancy does not halt progression of the paraneoplastic pemphigus, especially if the surgery is not curative or if pulmonary manifestations (end-organ disease) are present. Cases associated with benign neoplasms can improve dramatically when the tumor is resected, owing to the decreased production of autoantibodies.[16]
Circulating and tissue-bound antibodies in patients with paraneoplastic pemphigus are directed against cadherins and a group of molecules with sequence homology and belonging to the plakin family. Plakins are found in the intracellular attachment plaques of desmosomes and hemidesmosomes, and they play a key role in intermediate filament attachment. However, the number of reported target antigens has increased over time and varies between patients. This variability likely accounts for the clinical heterogeneity of this disease. By immunoprecipitation, target antigens (in decreasing order of incidence) include desmoglein 3, desmoglein 1, envoplakin, periplakin, desmoplakin I, desmoplakin II, and bullous pemphigoid antigen I. Plectin, a 170-kd protein called alpha2-macroglobulin-like–1, and epiplakin have also been found.[17, 18, 8]
How tumors induce autoantibodies to plakin proteins is not known. Tumor cells have been demonstrated to produce autoantibodies that react to epidermal proteins. Other postulates include (1) cross-reactivity of tumor antigens and epidermal antigens and (2) tumor production of plakin proteins that initiate an autoimmune response. Dysregulated cytokine production by tumor cells, specifically interleukin 6, contributing to the autoimmune process is another hypothesis. The concept of epitope spreading, with which patients develop antibodies to multiple structurally related and unrelated proteins, may explain the multitude of antibodies produced in association with this disease.
No racial predilection is apparent for paraneoplastic pemphigus.
Males are affected more than females.[6]
Paraneoplastic pemphigus has been reported in patients aged 7-83 years. It typically affects patients aged 45-70 years, but it can also be seen in children and adolescents.[16]
The prognosis of paraneoplastic pemphigus is poor. High mortality rates are due to systemic complications, and treatment of the underlying tumor does not necessarily improve prognosis.
The mortality rate when associated with malignancy is estimated at 90%. Nearly all patients with the 2 most common associated tumors, non-Hodgkin lymphoma and chronic lymphocytic lymphoma, are dead of disease within 2 years of diagnosis. Note, however, that outcome does not parallel the course of the underlying malignancy. Both the presence of an underlying neoplasm and the adverse effects of the potent medications required to treat the disease add to both the morbidity and the mortality.
Paraneoplastic pemphigus is the only form of pemphigus that affects epithelia other than squamous. Involvement of respiratory mucosa, which manifests clinically as dyspnea with normal chest radiograph findings, is an ominous finding that progresses via an unknown mechanism to bronchiolitis obliterans. The most recent estimates are that approximately one third of the deaths from paraneoplastic pemphigus are due to pulmonary insufficiency.
Paraneoplastic pemphigus is often fatal, especially when associated with malignancy. Mortality rates approach 90%. Causes of death include the evolution of the underlying neoplasm, sepsis with resultant multiorgan failure, and respiratory failure due to the direct effects of the disease on the respiratory tract epithelium. The latter is being increasingly recognized, and pulmonary involvement has been found to occur in approximately 30-40% of patients. Bronchiolitis obliterans is characteristic. The susceptibility to infection caused by the loss of skin integrity is exacerbated by the potent immunosuppressive medications used to treat the condition.
Patients with paraneoplastic pemphigus and long-term survival have been described. Those whose underlying neoplasm is benign, such as in Castleman disease and thymoma, tend to have a better prognosis.
A 2012 study on 53 patients with paraneoplastic pemphigus found a mortality rate of 68%.[19] The authors surmise that this was lower than other reported rates because of the inclusion of patients with only moderate, as opposed to severe, disease. Patients with erythema multiforme–like lesions and keratinocyte necrosis on biopsy, especially when associated with severe skin or mucosal involvement, tended to have a worse prognosis.
As with any serious illness, patients should be made aware of the poor prognosis. For patient education resources, see the Procedures center, as well as Skin Biopsy.
Paraneoplastic pemphigus is usually associated with malignancy, although it can occur in association with benign neoplasms. The most common malignancy associated with paraneoplastic pemphigus is non-Hodgkin lymphoma.[20, 21, 22] Other associated malignancies and conditions include chronic lymphocytic leukemia, Castleman disease,[23, 24, 25, 26] Waldenström macroglobulinemia,[27] thymoma,[24, 28] sarcoma,[28] , lung carcinoma, and malignant melanoma,[16] although this has been challenged.[29] It has been reported in a patient with HIV disease who was found to have intra-abdominal diffuse B-cell lymphoma.[30]
An association reported in 2009 is with systemic mastocytosis,[31] and an atypical case associated with endometrial carcinoma lacking mucosal involvement has been reported.[32] Paraneoplastic pemphigus can coexist with bullous pemphigoid[33] and has been reported to "shift" to pemphigus vulgaris,[34] although this is controversial.
Also see Non-Hodgkin Lymphoma (pediatric focus), Chronic Lymphocytic Leukemia, Waldenstrom Hypergammaglobulinemia, and Thymoma
Patients present with painful oral erosions, often accompanied by a generalized cutaneous eruption. Oral erosions occur early and typically are severe, often involving the lateral tongue and vermilion. The eruption can assume a wide variety of morphologies. A classification system has been suggested, dividing lesions into pemphiguslike, pemphigoidlike, erythema multiforme–like, graft versus host disease–like, and lichen planus–like. Additionally, some patients report pruritus or pain. Cases without mucosal involvement have been reported, especially with the lichen planus –like variant, although these patients lacked autoantibodies.[10]
The earliest and most constant clinical finding in paraneoplastic pemphigus is painful oral erosions. Of those patients who present with a skin eruption, all go on to develop mucositis at some point during the course of the disease. Some patients only experience oral lesions.
The erosions of paraneoplastic pemphigus can occur anywhere in the mouth, including the buccal, labial, gingival, and lingual mucosae. All surfaces of the oropharynx can be affected. Erosions and subsequent crusting on the vermilion of the lips are typical and similar to that seen in persons with Stevens-Johnson syndrome. In contrast to pemphigus vulgaris, where oral lesions are discrete, oral involvement by paraneoplastic pemphigus tends to be more diffuse.[6] . Paraneoplastic pemphigus also tends to affect the conjunctiva, unlike pemphigus vulgaris, and genital mucosal surfaces can also be affected. Finally, nasal ulcers can occur and may cause epistaxis.
The eruption of paraneoplastic pemphigus is highly variable. Patients may present with diffuse erythema, vesiculobullous lesions, papules, scaly plaques, exfoliative erythroderma, erosions, or ulcerations. The erythema can be macular, urticarial, or targetoid, and it may be polymorphous. Patients may initially present with erythema, and they may subsequently develop bullae and erosions.
Large areas of denudation with a positive Nikolsky sign can occur. Pustules have been reported. The papular lesions may resemble lichen planus, and the oral lesions may also be mistaken for lichen planus.[35] A single patient has been reported with a solitary, pemphigus vegetans–like lesion that arose in a previous bulla. In addition to the pattern of mucosal involvement, clinical features distinguishing paraneoplastic pemphigus from pemphigus vulgaris include involvement of the palms and soles and sparing of the scalp in the former.[6]
A 2012 study on prognostic factors of paraneoplastic pemphigus found the presence of erythema multiforme–like lesions heralded a worse prognosis, especially if there was keratinocyte necrosis on biopsy and severe skin or mucosal involvement.[19]
Findings outside of the integument occur in approximately one third of patients. Biopsy-confirmed paraneoplastic pemphigus has been reported in the gastrointestinal tract and the respiratory tract mucosa. The latter has been increasingly recognized and is a significant cause of mortality. Pulmonary involvement manifests as obstructive lung disease and progresses to bronchiolitis obliterans and death. Despite its ominous significance, signs of pulmonary involvement are subtle. Patients develop dyspnea, yet chest radiograph findings are normal. However, pulmonary function testing reveals a severe obstructive pattern and decreased diffusion capacity.[36] Ocular involvement ranges from mild conjunctivitis to symblepharon with corneal scarring.[37] Muscle weakness can occur, and some patients develop myasthenia gravis.[38]
It has been suggested that patients with humorally mediated paraneoplastic pemphigus have a pemphigus vulgaris–like appearance, while cell-mediated disease appears more lichenoid.[39] Patients with lichenoid paraneoplastic pemphigus may lack autoantibodies or develop them later in their course. In addition, antibodies to certain antigens may correlate with disease manifestations, as patients without epiplakin antibodies do not develop bronchiolitis obliterans.[8]
The main complication of paraneoplastic pemphigus is impaired skin barrier function, which can lead to localized infection, sepsis, and death. Additionally, painful oral and pharyngeal ulceration can interfere with eating, which can compromise nutritional status. Finally, involvement of respiratory tract epithelium can lead to respiratory insufficiency due to bronchiolitis obliterans and can result in death.
The evaluation of patients suspected of having paraneoplastic pemphigus includes obtaining samples by skin biopsy for routine microscopy and direct immunofluorescence (DIF) testing (see image below), followed by more sophisticated testing when indicated.
View Image | Direct immunofluorescence microscopy performed on epithelial biopsy specimen obtained from a patient with pemphigus vulgaris detects immunoglobulin G .... |
If the histologic features and DIF results suggest the diagnosis, serum should be sent for indirect immunofluorescence (IDIF) testing. The choice of substrate for the IDIF is important because different substrates express different antigens. Rat bladder is the substrate of choice, and monkey esophagus is also more sensitive than human skin. If IDIF results are negative, additional assays should be performed.[42] A case of paraneoplastic pemphigus in which the DIF and IDIF results were negative initially and became positive after 6-14 weeks, respectively, has been reported.[13]
Immunoprecipitation, immunoblotting and enzyme-link immunosorbent assay (ELISA) are sensitive assays that are very helpful in confirming the diagnosis of paraneoplastic pemphigus. Several new assays have been described[43, 44, 45] ; however, commercial availability is variable, and they may only be obtainable at research laboratories.
Once the diagnosis of paraneoplastic pemphigus is established, further evaluation for malignancy may be necessary.
Skin biopsy samples for DIF testing should be taken from noninvolved, perilesional skin. IgG, with or without complement, binds in an intercellular pattern within the epidermis. Immunoglobulin A (IgA) and immunoglobulin M (IgM) also may be detected. Staining can be diffuse or focal. Positive findings limited to adnexal structures have been described.[46]
Some patients have granular or linear deposition of complement, IgG, and/or IgM along the dermoepidermal junction. The combination of intercellular and subepidermal deposition of immunoreactants is a clue to the diagnosis of paraneoplastic pemphigus.
IDIF testing is performed by using sera obtained from patients suspected of having paraneoplastic pemphigus and is a good screening test for this disease. Patients with high-titer antibodies exhibit both intercellular intraepidermal antibody deposition and deposition along the dermoepidermal junction. Patients with low titers only exhibit deposition intercellularly in a pattern identical to that of pemphigus vulgaris.
Because circulating antibodies that bind to the cell surface of stratified squamous epithelia are common to all forms of pemphigus, other substrates, such as rodent bladder, can be useful in distinguishing paraneoplastic pemphigus from pemphigus vulgaris or pemphigus foliaceus. Binding to rat bladder transitional epithelium is specific for circulating autoantibodies from patients with paraneoplastic pemphigus, with a specificity of 83%;[42] sensitivity ranges from 75-86% depending on the study.
A 2013 study found that immunoprecipitation for antibodies against envoplakin and periplakin or alpha2-macroglobulin-like–1 is the most sensitive test for paraneoplastic pemphigus, although the latter can also be seen in toxic epidermal necrosis. Because this test is not always readily available, the authors also suggest that the combination of IDIF on rat bladder and immunoblotting may be easier and have similar sensitivity and specificity.[18]
A 2013 study on 19 paraneoplastic pemphigus patients revealed the following sensitivities[18] :
Specificity ranged from 86-100%.
Vesicular lesions express the most characteristic histopathologic features. Oral and cutaneous lesions show variable epidermal necrosis, suprabasal acantholysis, dyskeratotic keratinocytes, vacuolar interface dermatitis, and lymphocytic exocytosis. Substantial inflammation can be present, even in early lesions.
While oral mucosal lesions show the greatest acantholysis, biopsy specimens of severe stomatitis may reveal only ulceration. Some skin lesions lack any acantholysis. When present, suprabasal acantholysis can result in clefts and tombstoning, which is the appearance of the basal cell layer below the cleft, and histologic findings can be indistinguishable from pemphigus vulgaris.
A distinctive feature of paraneoplastic pemphigus is dyskeratosis. Dyskeratosis is a constant feature, but the number of dyskeratotic keratinocytes is variable. Dyskeratotic keratinocytes are found at all levels in the epidermis, especially within the zones of acantholysis, and they can be found in cutaneous adnexa. The presence of dyskeratosis in a person with a suprabasal acantholytic bullous disorder is a clue to the presence of paraneoplastic pemphigus.
Interface dermatitis is a frequent finding in persons with paraneoplastic pemphigus, and it can be found both with and without acantholysis. Exocytosis of inflammatory cells into the epidermis is common, and the amount and degree are directly proportional to the degree of dyskeratosis. Satellite cell necrosis (a lymphocyte adjacent to a necrotic keratinocyte) can occur. Lesions showing marked vacuolar alteration are accompanied by melanophages in the papillary dermis.
Dermal changes include a superficial perivascular infiltrate of variable intensity, which is mostly composed of lymphocytes. As in the oral mucosa, the pattern of cutaneous inflammation can be lichenoid, leading to a misdiagnosis of lichen planus.[47] Papillary dermal edema is present in early lesions, whereas older lesions may exhibit mild dermal fibrosis.
Response to treatment paraneoplastic pemphigus is generally poor, especially for mucosal lesions. Initial care is aimed at treating superinfection, if present. Warm compresses, nonadherent wound dressings, and topical antibiotic ointment are helpful. Potent immunosuppressive agents are required to decrease blistering, but they are often ineffective. High-dose corticosteroids are first-line therapy for paraneoplastic pemphigus,[21] followed by steroid-sparing agents such as azathioprine, cyclosporine, and mycophenolate mofetil. In general, the skin lesions of paraneoplastic pemphigus are more responsive to therapy than mucosal lesions.[48]
Other therapeutic options for paraneoplastic pemphigus include plasmapheresis, immunophoresis, intravenous gammaglobulin,[36] and stem cell ablation therapy with high-dose cyclophosphamide[20] without stem cell rescue. Rituximab has been tried in several patients with mixed results.[49, 50] Alemtuzumab, an agent that targets CD52, has also been used with success.[51] Treating the underlying malignancy may control autoantibody production, and intravenous gammaglobulin (IVIG) at the time of surgery may help prevent the development of bronchiolitis obliterans. However, once this develops, it is typically not reversible.[6]
For solid neoplasms, curative resection should be attempted when appropriate, but this does not halt disease progression, especially when malignant. If surgery results in decreased autoantibody production, the paraneoplastic pemphigus may improve. IVIG before, during, and after the surgery may block autoantibody released from the tumor. Respiratory symptoms and other end-organ damage are persistent.
Respiratory therapy may be beneficial when pulmonary involvement from paraneoplastic pemphigus causes respiratory insufficiency. Consultations from a pulmonary medicine specialist, an ophthalmologist, a gastroenterologist, and an otolaryngologist should be obtained when appropriate.
The medications used to treat paraneoplastic pemphigus are potent immunosuppressive agents with numerous adverse effects. All patients taking these medications require periodic monitoring of laboratory values.
Clinical Context: Prednisone affects all organ systems. On a cellular level, it affects cell activation, replication, differentiation, and mobility. The net result is inhibition of immediate and delayed hypersensitivity. Suppression of antibody production requires higher doses than suppression of monocyte function.
Clinical Context: Azathioprine is often used in conjunction with prednisone for dermatologic purposes as a steroid-sparing agent. It is a purine analog with cytotoxic properties. The prodrug is metabolized to 6-mercaptopurine. It inhibits RNA and DNA synthesis.
Clinical Context: Cyclosporine has been demonstrated to be helpful in a variety of skin disorders. It is a potent immunosuppressive agent most often used in organ transplantation. Cyclosporine diminishes the production of autoantibodies and decreases resultant blistering and erosions. It acts by inhibiting T lymphocytes and lymphokine production.
Clinical Context: Reports suggest that cyclophosphamide in combination with systemic steroids is a useful regimen for paraneoplastic pemphigus. It has been used to ablate bone marrow, followed by stem cell rescue (peripheral blood stem cell transplantation). Cyclophosphamide is chemically related to nitrogen mustards. As an alkylating agent, the mechanism of action of active metabolites may involve cross-linking of DNA, which may interfere with the growth of normal and neoplastic cells. Many PO/IV regimens exist, depending on the disease being treated and the status of the patient.
These agents diminish the production of autoantibodies and decrease resultant blistering and erosions.
Clinical Context: Immune globulins intravenous is prepared from the pooled plasma of 10,000-20,000 donors. It has many mechanisms of action, which are mediated by the Fc portion of IgG or the antigen-binding and variable regions of the F (ab') 2 portion. It has been used for dermatomyositis, pemphigus foliaceus, pemphigus vulgaris, epidermolysis bullosa acquisita, bullous pemphigoid, and herpes gestationis. A high dose is needed for treatment of inflammatory and autoimmune disorders in comparison to replacement therapy for patients with deficiency.
IVIG is being increasingly used in high doses to treat many dermatologic inflammatory and autoimmune diseases, including autoimmune bullous disorders and dermatomyositis. However, few controlled trials exist, and it is costly and time consuming to administer. IVIG has been used as monotherapy and as adjunctive therapy.