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Bullous Pemphigoid

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What is Bullous Pemphigoid?

Bullous pemphigoid is an autoimmune disorder that results in the formation of bullae, most often in the groin, axillae, and intertriginous areas. It is primarily a disease of the elderly. Oral involvement occurs in approximately 33% of patients. Bullae form at the subepidermal junction. This results in tense bullae that do not exhibit a “Nikolsky sign”—(in a positive Nikolsky sign, lateral pressure results in extension of the lesion), distinguishing it from pemphigus vulgaris.

With what can bullous pemphigoid be confused?

Bullous pemphigoid must be distinguished from other bullous disorders of the skin and mucous membranes, such as: herpes simplex virus, contact dermatitis, pemphigus vulgaris, dermatitis herpetiformis, and porphyria cutanea tarda.

How is bullous pemphigoid diagnosed?

Direct and indirect immunofluorescence is positive for IgG and complement deposits in a linear band at the dermal-epidermal junction, at the basement membrane zone.

How is bullous pemphigoid treated?

Steroids (e.g prednisone) and immunosuppressive agents, such as methotrexate and azathioprine, are the mainstay of therapy.

What is the prognosis for bullous pemphigoid?

With treatment, the disease tends to regress over months to years. Resultant mortality is low.

Bowen’s Disease

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What is Bowen’s Disease?
Bowen’s disease is carcinoma in situ (the transformed cells remain confined to the epidermis above the basement membrane) derived from epidermal keratinocytes. It can progress to squamous cell carcinoma. It appears as an erythematous scaling or crusted patch, which may  slowly enlarge. Bowen’s disease may also occur on mucous membranes, such as the glans penis. In this location it is known as erythroplasia of Queyrat and appears as a moist, red, velvety plaque.

With what can Bowen’s Disease be confused?
Early Bowen’s Disease often appears as nummular eczema, and comes to clinical attention due to its lack of response to steroids.  Other conditions such  as tinea corporis, superficial basal cell carcinoma, actinic keratosis, Paget’s disease, and psoriasis may also be confused with Bowen’s Disease.

How is Bowen’s Disease diagnosed?
A skin biopsy is required to diagnose Bowen’s Disease.

How is Bowen’s Disease treated?
Topical therapy, such as the anti-metabolite 5-fluurouracil (5-FU), can be used for weeks to months. Brisk inflmmation will occur, possibly leading to erosion or ulceration. Imiquimod (Aldara) a topical immune response modifier, may also be effective. Photodynamic therapy (PDT) has  been used as well.

Destructive modalities can also be used, such as curettage and electrodesiccation, cryotherapy, and laser removal. The downside of these approaches is that no specimen is obtained for pathology confirmation.

Surgical treatment is best suited for well-defined lesions.  Simple excision with 4 mm margins is effective for small lesions that are not in difficult locations. Mohs micrographic surgery is a good choice for larger lesions or poorly demarcated ones.   Recurrent lesions or those in areas where tissue sparing is vital, such as face, digits or genitals, are good candidates as well.

What is the prognosis for Bowen’s Disease?
Most cases of Bowen’s Disease can be effectively treated.  As for any skin cancer, follow-up at frequent intervals is necessary, typically every 6 to 12 months.  Full body exams should be conducted at these visits to search for new lesions or recurrence.   Sunscreen and protective clothing should be used to prevent further sun-induced skin damage. Treatment may lead to scarring.  Topical treatments, and destructive modalities that do not provide a specimen for pathology may be more likely to lead to recurrence, necessitating further treatment.

Birt-Hogg-Dubé Syndrome

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What is Birt-Hogg-Dubé syndrome?

Birt-Hogg-Dubé syndrome is a rare autosomal dominant disorder caused by a mutation in the  gene FLCN, which codes for the protein folliculin. FLCN is though to act as a tumor suppressor. Birt-Hogg-Dubé syndrome is marked by the occurrence of multiple benign tumors derived from the hair follicle.

Associated conditions include:

  • Benign and malignant renal tumors
  • Tumors in other organs, including medullary thyroid and colon carcinomas.
  • Lung cysts that can result in pneumothorax.

Behcet’s Disease (Behçet’s Disease)

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What is Behcet’s disease?

Behcet’s disease is a multisystem disease marked by exacerbations and remissions. Symptoms include recurrent oral and genital ulcerations, a variety of ocular manifestations, and cutaneous lesions. The first symptom is frequently aphthous stomatitis, which may precede other disease manifestations by months or years. The oral ulcers are painful and appear as circular erythematous lesions with a yellow pseudomembrane. Genital lesions involve the vulva in women and the scrotum and penis in men. They are painful, often larger than the oral lesions, and have irregular margins. Cutaneous manifestations are varied and include sterile vesiculopustules in an acral or facial distribution, pustules, purpura (secondary to vasculitis), erythema nodosum and pyoderma gangrenosum. Superficial thombophlebitis also occurs. Pathergy, the occurrence of lesions after trivial trauma, is often present. Ocular involvement is the most significant complication of Behcet’s disease, occurring in 90% of cases. Although posterior uveitis is the most frequently observed manifestation, a wide variety of lesions are possible. A variety of other organ systems can be involved such as: non-erosive mono- and polyarthritis; gastrointestinal pain, bleeding, or even perforation; neurologic involvement, including meningoencephalitis, cranial nerve palsies and pyramidal and extrapyramidal symptoms; vascular aneurysms, occlusive vascular disease, and coronary artery arteritis; and myocarditis or valvular disease.

Behcet’s disease is most likely an autoimmune disease with a genetic disposition. The lesions result from circulating immune complexes and a neutrophilic reaction (i.e. infiltration of neutrophils around blood vessels). The disease occurs primarily in Japan, the Middle East, and the Mediterranean region.

With what can Behcet’s disease be confused?

Behcet’s disease must be distinguished from other causes of oral and genital ulceration, including idiopathic aphthous stomatitis, the lesions associated with inflammatory bowel disease and bowel-associated dermatosis-arthritis syndrome, Sweet’s syndrome, herpes simplex virus, pemphigus vulgaris, and other blistering disorders that can cause ulcerations, such as linear IgA bullous dermatosis.

How is Behcet’s disease diagnosed?

Behcet’s disease is diagnosed based upon criteria designated by an International Study Group (see below), though a number of other diagnostic criteria have been used in the past.

International Study Group Criteria for Diagnoses of Behcet’s Disease
Recurrent oral ulceration occurring at least three times in a 12 month period
and at least two of the following
Genital ulceration: Recurrent genital ulcerations
Eye Involvement: Anterior or posterior uveitis; retinal vasculitis; cells observed in vitreous on slit-lamp
Cutaneous lesions: Erythema nodusum; papulopustules; pseudofolliculitis; acneiform nodules (post-puberty and in absence of steroid use)
Pathergy (occurrence of lesions after trivial trauma)

How is Behcet’s disease treated?

Treatment is directed at the specific lesion and the involvement of vital organs, such as the eye. Early treatment is imperative to prevent systemic complications. Isolated mucocutaneous lesions can be treated symptomatically with viscous lidocaine or topical or intralesional steroids. Oral colchicine and dapsone have also been reported to be effective. More severe mucocutaneous disease may respond to thalidomide, methotrexate or oral steroids. For systemic involvement, immunosuppressive regimens are usually advocated, including prednisone, azathioprine, cyclophosphamide, cyclosporine, mycophenolate mofetil, IVIG, and TNF-α blockers such as entanercept or infliximab.

What is the prognosis for Behcet’s disease?

Oral ulcers heal in about 10 days. However, the disease is chronic and lesions tend to recur. Ocular involvement can lead to blindness.


Image links Other useful links

American Behcet’s Disease Association


Basal Cell Carcinoma

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What is basal cell carcinoma?

Basal cell carcinoma (BCC) is a cancer arising from the basal cell layer of the epidermis. It is the most commonly occurring human cancer. Despite only rarely metastasizing, these aggressive tumors can cause profound local tissue destruction. The majority of basal cell carcinomas are caused by exposure to ultraviolet radiation in the form of sunlight. It occurs most frequently in fair-skinned, light-eyed individuals with other evidence of sun-damage to their skin.

There are four commonly recognized clinical subtypes of BCC: nodular, pigmented, superficial, and sclerotic. The nodular type is most common, appearing as the classic “pearly papule” with a central depression, associated telangiectasia, and a rolled, waxy border. It is often found on the face, especially the nose. The pigmented type, as the name suggests, is a blue or black nodule, papule, or plaque, often speckled, with a rolled border. Superficial BCC appears similar to eczema, and is often found on the trunk. It is red, scaly, well-demarcated, and has a pearly border. The scarring type appears as a white atrophic plaque that can be confused with a scar. It is the most aggressive and, fortunately, least common, subtype of BCC.

Another sub-type to mention is the Pinkus type, also known as fibroepithelioma. It is distinguished by its unique reticulated appearance on histology. The Pinkus type of BCC is most frequently found in the lumbosacral area.

With what can basal cell carcinoma be confused?

Nodular BCC can resemble squamous cell carcinoma, non-pigmented nevus, molluscum contagiosum, and sebaceous hyperplasia. Pigmented BCC can be confused with other pigmented lesions such as pigmented nevus and, importantly, malignant melanoma. Seborrheic keratosis is also in the differential. Superficial BCC can be confused with eczema, dermatitis, psoriasis, and Bowen’s disease. Sclerotic BCC, as the name suggests, can be confused with a scar or sometimes a squamous cell carcinoma.

How is basal cell carcinoma diagnosed?

A BCC might be suspected after a routine skin exam. A new growth that does not heal and bleeds easily is suspicious for BCC, especially in fair skinned persons with a history of sun exposure and evidence of actinic (sun) damage. This suspicion will be confirmed with a skin biopsy, either punch or shave, which is interpreted by a dermatopathologist. As the cancer’s name suggests, its cells resemble the basal cells of the epidermis. The tumor extends from the epidermis into the dermis with various morphologies such as nodules, cysts, buds, and strands.

How is basal cell carcinoma treated?

Possibilities include scalpel excision, curettage and electrodessication, cryotherapy, radiation therapy, and imiquimod and 5-fluorouracil, which are topical chemotherapeutic agents. Treatment depends on various parameters such as size, location, whether it is a recurrence, histopathologic type, and age and general health of the patient. Excision with suture closure is the most common modality. A special form of surgery, Mohs’ micrographic surgery, is sometimes performed. In this procedure, the surgeon examines the excised tissue in real time to ensure that it is free of cancerous cells. It enables the surgeon to remove only as much tissue as is necessary to ensure tumor-free margins.

What is the prognosis for basal cell carcinoma?

These tumors rarely metastasize (spread to a remote location), with an estimated rate of 0.003%. However, they can be aggressive locally. If not treated in a timely fashion, a BCC can result in significant deformity. Annual follow-up is recommended; up to 35% of patients will develop a second BCC within five years.

How is basal cell carcinoma prevented?

Avoidance of further sun damage is critical. This includes the daily use of sunscreens with a minimum SPF of 15 to 30, depending on skin type, protective clothing such as a wide-brimmed hat and long sleeved shirt, and sun avoidance, especially midday when the sun is strongest.


Image links

DermNetNZ: Fact Sheet and Photos of Basal Cell Carcinoma

Other useful links

The Skin Cancer Foundation: Basal Cell Carcinoma
Ramsey, ML. Basal Cell Carcinoma. e-medicine. May 9, 2006