Question

Find a disease other than Epidermolysis Bullosa that affects one of the cell-cell junctions or cell-matrix junctions discused in class. Describe (a) the pathophysiology, (b) the symptoms or other abnormalities and (c) the treatment, if any.

Answer 1

Answer :

PEMPHIGUS.

Describe :

Pemphigus is an autoimmune disorder. It is a diseases that causes blisters and sores on the skin or mucus membranes, such as in the mouth or on the genitals. Pemphigus can occur at any age, but it's most often seen in people who are middle-aged or older. It tends to be a long lasting (chronic) condition, and some types can be life threatening without treatment. Treatment with medication usually controls it.

Symptoms :

Pemphigus causes blisters on skin and mucus membranes. The blisters rupture easily, leaving open sores which may ooze and become infected.

The signs and symptoms of two common types of pephigus are as follows :

• Pemphigus vulgaris : This type usually begins with blisters in mouth and then skin or genital mucus membrane.The blisters typically are painful but don't itch. Blisters in mouth and throat may make it hard and difficult to swallow and eat.
• Pemphigus foliaceus :This type causes blisters on the chest, back and shoulders. The blisters tend to be more itchy than painful. It doesn't cause mouth blisters.

Pemphigus is distict from bullous pemphigoid, which is a blistering skin condition that affects older adults and may cause death.

Causes :

• Normally immune system produces antibodies to fight off harmful invaders, such as viruses and bacteria. But in pemphigus, the body produces antibodies that damage cells of skin and mucus membranes.
• Pemphigus is not contagious. In most cases that is unknown what triggers the disease.
• Rarely, pemphigus is triggerd by the use of angiotensin-converting enzymes inhibitors,pencillamine and other drug.

Pathophysiology :

It is an auto immune disease caused by antibodies directed against both desmoglein 1 and desmoglein 3 present in desmosomes. Loss of desmosome present in loss of cohesion between keratinocytes in the epidermis, and a disruption of the barrier function served by intact skin. The process is classified as a type II hypersensitivity reaction ( in which antibodies bind to antigens on the body's own tissues). On histology, the basal keratinoctes are usually still attached to the basement membrane leading to a charecteristics appearance called " tombstoning".

Transudative fluid accumulates in between the keratinocytes and the basal layer ( suprabasal split), forming a blister and resulting in what is a known as positive Nikolsky's sign. This is a contrasting feature from bullous pemphigoid., which is thought to be due to anti-hemidesmosome antibodies, and where the detachment occurs between the epidermis and dermis (subepidermal bullae). Clinically, pemphigus vulgaris is charecterized by extensive flaccid blisters and mucocutaneous erosions.the severity of the disease as well as the mucosallesions, is beleived to be directly proportional to the levels of desmoglein.

Risk factors :

• Pemphigus incraeses if middle-aged or older.
• more common in people of Middle Eastern or Jewish descent

Complications :

Possible complications of pemphigus include:

• infection of skin
• Infections that spread through blood stream(sepsis)
• Malnutrition, because painful mouth sores make it difficult to eat.
• Medication side effects, such as high blood pressure and infection
• Death, if certain types of pephigus are left untreated.

Management :

Management is aimed at reducing pain and symptoms and preventing complications like infection.It involes one or more methods and other drugs. It may iclude any of the following :

• Corticosteroid : For people with mild disease, corticosteroids cream may be enough to control it.For others , the mainstay of treatment is an oral corticosteroid , such as prednisone pills. Using corticosteroids for a long time or in high dose may cause serious side effects including , diabetes, bone loss, an increased risk of infection, stomach ulsers and a redistribuition of body fat, leading to round face(moon face)
• Steroid-sparing immunosuppresant drugs . Medications such as azathioprine (imuran, Azasan), mycophinolate help keep immune system from attacking healthy tissue.
• Other medications : If first line drugs are not help go to another drugs by physician's order like dapsone and IV immunoglobulin etc.

Life style and home remedies :

• Follow physician's wound care instructions : taking good care of wounds can help prevent infection and scarring
• Gently wash skin: use mild soap and apply moizturizer afterward.
• Protect skin : avoid activities that may hurt the skin.
• Avoid certain foods :blisters in mouth could be triggerd or irritated by spicy, hot or abrasive foods.
• Minimize sun exposure : ultraviolet light may trigger new blisters.