What is Cicatricial Pemphigoid (Autoimmune Blistering Disease of the Skin and Mucous Membranes)?
Cicatricial pemphigoid is a rare, long-term skin condition that is caused by the immune system mistakenly attacking healthy cells, leading to blisters and potentially scarring. This condition can affect just the skin, only the moist tissues that line certain parts of the body (mucous membranes), or both. If only the mucous membranes are affected, it’s often called mucous membrane pemphigoid. If it’s only in the eyes, it might be known as ocular pemphigoid. The chances of getting scars depend on the affected area.
Diagnosing this disease at first can be difficult. However, it’s important that treatment starts as soon as possible due to the serious risks associated with the condition, including the potential for blindness and difficulties with breathing if the airways become damaged.
What Causes Cicatricial Pemphigoid (Autoimmune Blistering Disease of the Skin and Mucous Membranes)?
In cicatrical pemphigoid, a certain type of disease, patients can develop harmful antibodies that target parts of the basement membrane zone, a layer present in various tissues. These antibodies have been found to contribute to the development of the disease.
Patients suffering from cicatrical pemphigoid can show the presence of antibodies to different antigens like the 180-kD bullous pemphigoid antigen (BP180), laminin 332 (previously called epiligrin or laminin-5), beta-4-integrin, and other antigens that are yet to be fully understood.
Risk Factors and Frequency for Cicatricial Pemphigoid (Autoimmune Blistering Disease of the Skin and Mucous Membranes)
Cicatricial pemphigoid is a rare disease and the exact number of people it affects isn’t clear. Some studies conducted in France and Germany estimate that it affects between 0.87 to 1.16 people per million each year.
Research in Greece found that the average age when people start to experience cicatricial pemphigoid is 66, and it seems it is more common in females. This was also seen in a German study, where the ratio of females to males with the disease was seven to one.
From a different study that reviewed the medical records of 162 patients with a similar condition called mucous membrane pemphigoid, it was discovered that 67% had eye related symptoms when they first saw their doctor. For those who didn’t have eye symptoms at first, the risk of getting them later was 0.014 per person per year.
Lastly, there is a specific genetic marker called HLA-DQB1*0301 that increases the likelihood of getting cicatricial pemphigoid.
Signs and Symptoms of Cicatricial Pemphigoid (Autoimmune Blistering Disease of the Skin and Mucous Membranes)
Cicatricial pemphigoid, a type of skin disease, typically starts in the mouth but can affect other parts of the body as well. Here’s a rundown of how this condition can manifest in different areas:
- Mouth: All parts of the oral cavity, including the inside cheeks, gums, tongue, and roof of the mouth can be affected. Symptoms include gum inflammation, blisters, and sores. Long-term inflammation may result in tooth decay or even tooth loss. Scarring is rare but possible.
- Eyes: This condition usually affects both eyes and can lead to scar formation and visual disturbances over time. People may experience symptoms like eye irritation, burning, or excessive tearing. Severe scarring can cause the eyelids to fail to close properly, leading to decreased tear and mucus production and affecting sight.
- Nasopharynx (the area behind the nose): Less common, but it can cause crusted nasal sores, nosebleeds, or chronic sinusitis. Scarring can interfere with airflow and can result in sleep apnea.
- Esophagus: Manifests as chest pain, difficulty swallowing, painful swallowing, and narrowing of the esophagus.
- Genital and anal mucosa: Fairly rare, with symptoms including erosion, ulceration, and discomfort. Scarring can lead to a narrowing of the urinary and vaginal openings, which might need surgical intervention to restore function.
- Skin: There are two types of skin manifestations – a generalized outbreak of tight blisters without scarring and localized blisters leading to sunken scarring, often affecting the head and neck region. Persistent activity in the scalp can result in hair loss.
It’s important to note that cicatricial pemphigoid may present differently in each individual. The above list includes the most common presentations and symptoms, but every case is unique.
Testing for Cicatricial Pemphigoid (Autoimmune Blistering Disease of the Skin and Mucous Membranes)
Doctors use a few tests to help them diagnose this condition. First, they might take a small sample of your skin (this is known as a biopsy). Then, they will look at this sample under a microscope to check for any abnormal cells (we call this step histopathology).
They might also take a sample from the skin next to the problematic area and test it using a method known as direct immunofluorescence (DIF). This test is helpful because it can show a presence of specific proteins, IgG and C3, forming a band at the boundary layer of your skin where the top layer meets the bottom layer. Occasionally, they also find another protein, IgA, in this layer. To get more precise results, doctors may need to take multiple samples and repeat the test.
In addition, doctors might do a test called indirect immunofluorescence to look for autoantibodies, proteins produced by your immune system that mistakenly attack your own body, like IgG or IgA. However, this test only detects autoantibodies in a small percentage of patients. To optimize the effectiveness of this test, doctors might use a concentrated assay, a test where they add a special substance to the skin sample, and then check for the presence of both IgG and IgA.
Lastly, the doctor might order an enzyme-linked immunosorbent assay (ELISA). This test can find the presence of certain antibodies in the blood that are signs of this condition. However, the downside is that not all labs carry out this test, so it might not be readily available.
Treatment Options for Cicatricial Pemphigoid (Autoimmune Blistering Disease of the Skin and Mucous Membranes)
For mild forms of skin or oral diseases, topical treatments can be beneficial. Using medium to high strength topical steroids, like gels or ointments, two or three times each day is a good starting point. The number of applications per day can be reduced slowly depending on how well the patient’s body responds to the treatment.
To make these topical treatments work more effectively, it’s a good idea to pat the skin dry with a tissue before applying the medication. This can help to remove excess moisture that may interfere with the effectiveness of the medication. Be gentle when applying the medication, rubbing it into the affected area for about 30 seconds. It’s best to avoid eating or drinking for about a half hour after applying the medication to help it absorb into the skin better.
Another method to increase the medication’s effectiveness is to use special dental devices, like trays, that can help keep the topical steroid in contact with the affected parts of the mouth. Other topical treatments, like tacrolimus, have also been reported to be beneficial. Extended use of topical steroids is usually safe, but using them on the skin over a long period may lead to lightening of the skin and thinning of the skin. While these issues are not common with use on the inside of the mouth, it’s possible that they can increase the risk for mouth yeast infections and reactivate cold sores.
In addition to these treatments, maintain good oral hygiene is an important part of treatment. Brush your teeth gently with a soft brush twice a day, floss daily, and make sure to see your dentist every three to six months. If topical treatments on their own aren’t enough for mild to moderate cases, dapsone could also be used. Typical doses range from 50 to 200 mg each day. Other systemic steroids can also be given with the dapsone.
For mild to moderate eye conditions, steroids like prednisone on their own or combined with dapsone can be considered. Keeping the eyes well cared for is important. If you’re dealing with dry eyes, which is common with this condition, use lubricants frequently like artificial tears or petroleum-based ointments. Keep the eyes clean of excess discharge to prevent bacterial infections.
For serious or quickly progressing conditions affecting the eyes, throat, or genitals, a combination of steroids like prednisone and an extra immunosuppressive medication is often suggested. These additional medications can include azathioprine, mycophenolate mofetil, or cyclophosphamide. The goal of these additional treatments is to allow for a gradual decrease of prednisone over six to twelve months. Intravenous immunoglobulin has seen success in the treatment of cicatricial pemphigoid. Medications inhibiting tumor necrosis factor-alpha have also been used in treating cicatricial pemphigoid. Rituximab, on its own or as part of additional treatment, has been used in treating mucous membrane pemphigoid.
What else can Cicatricial Pemphigoid (Autoimmune Blistering Disease of the Skin and Mucous Membranes) be?
Bullous pemphigoid is a common skin condition linked to the immune system that mostly affects people aged 65 to 75. It produces large, tight blisters on normal or itchy skin and more infrequently affects the mouth lining. The good news is that these skin blisters do not leave scars and usually respond well to steroid treatment.
On the other hand, Epidermolysis bullosa acquisita (EBA), is a rare skin condition where blisters form mainly on the outside of the body, often due to friction or injury. Common areas include the hands, elbows, knees, and buttocks. These blisters do leave scars and small, cyst-like spots known as milia. EBA can also affect the mouth and may be linked to other bodywide diseases. Unfortunately, it’s more stubborn and doesn’t easily respond to treatment.
Linear IgA bullous dermatosis is another rare type of skin blistering that can resemble other conditions like bullous pemphigoid, dermatitis herpetiformis, and cicatricial pemphigoid. It can sometimes affect the mouth and, less commonly, the eyes.
Bullous systemic lupus erythematosus is a blistering skin condition that develops in people with systemic lupus, another autoimmune disease. It usually results in red patches, plaques, and blisters on parts of the skin that are exposed to the sun. These lesions usually don’t scar, but they can occur around the mouth as well.
Paraneoplastic pemphigus is a rare and severe condition that’s associated with specific types of cancer, most commonly non-Hodgkin lymphoma and chronic lymphocytic leukemia. This condition’s characterised by painful mouth ulcers and various skin lesions that may resemble other skin diseases. It worsens pretty quickly and unfortunately, often causes death.
Pseudo-ocular cicatricial pemphigoid is a condition that can mimic other cicatricial pemphigoid conditions. This rare complication usually occurs on one eye following the use of certain eye drops to treat glaucoma. The good news is that once the eye drops are stopped, the condition usually stops worsening.
What to expect with Cicatricial Pemphigoid (Autoimmune Blistering Disease of the Skin and Mucous Membranes)
Cicatricial pemphigoid is a long-lasting disease that progressively leads to scarring. Patients need to have regular check-ups to monitor any complications from the scarring and chances of the disease returning. Because cicatricial pemphigoid can lead to severe complications, it’s recommended that treatment begins early and is comprehensive. Patients tend to do better when multiple fields of medicine are involved in their treatment plan. Some patients find that treatment that suppresses the immune system can be very helpful, and may even result in long-term relief from the disease. However, some patients may find that their disease does not respond to treatment or only temporarily improves with a given treatment.
Possible Complications When Diagnosed with Cicatricial Pemphigoid (Autoimmune Blistering Disease of the Skin and Mucous Membranes)
There are various complications that can occur in different parts of the body, which can cause significant discomfort and limitations in movement.
When it comes to the mouth, complications can involve painful scars and sticky tissues that limit movement. Problems with the gums may include cavities, loss of gum tissue, and the loss of teeth and tooth-supporting bones.
The eyes can be affected in a number of ways, including irritation, decrease in tears and mucus production, infections, and harmful changes to the eyelids, cornea, blood vessels, and eye surface. These could further lead to ulcers in the eye and even blindness.
Nose-related issues may involve discharge, nosebleeds, crust formation, chronic inflammation in the sinuses, scarring, and difficulty in breathing.
In terms of throat issues, these can present as a hoarse voice, loss of voice, narrowing of the air passage above the vocal cords which makes it difficult to breathe.
Difficulties associated with swallowing, pain during swallowing, choking hazards, and narrowing of the food pipe can all occur as esophagus complications.
In the Anogenital (anal and genital) area, people may experience painful sores, narrowing, and stiffening of the passage.
Common Complications:
- Painful scarring lesions and adhesion in oral area
- Caries, loss of gingival tissue, and tooth loss in gums
- Decreased tear and mucin production, infections, and potential blindness in eyes
- Discharge, nosebleeds, and impaired air flow in the nose
- Hoarseness, loss of voice, and airway compromise in the throat
- Dysphagia, pain during swallowing, and stricture formation in the esophagus
- Painful ulcerations and strictures in the anogenital area
Preventing Cicatricial Pemphigoid (Autoimmune Blistering Disease of the Skin and Mucous Membranes)
Patients should be well-informed about cicatricial pemphigoid, a long-term skin condition that can be stubborn to treat and may cause serious health issues. Due to these potential complications, it’s important for patients to strictly follow their prescribed treatments and schedule regular check-ups with their doctors.
Practicing good hygiene for your eyes and mouth is also key. This is especially important because good hygiene helps manage the symptoms of this condition. To help patients stick to their treatment plan, they should fully understand the potential side effects and correct ways to use their medications.