The deficiency in anchoring fibrils impairs the adherence between the epidermis and the underlying dermis. The skin of DEB patients is thus highly susceptible to severe blistering.Collagen VII is also associated with the epithelium of the esophageal lining, and DEB patients may suffer from chronic scarring, webbing, and obstruction of the esophagus. Affected individuals are often severely malnourished due to trauma to the oral and esophageal mucosa and require feeding tubes for nutrition. They also suffer from iron-deficiency anemia of uncertain origin, which leads to chronic fatigue.

Open wounds on the skin heal slowly or not at all, often scarring extensively, and are particularly susceptible to infection. Many individuals bathe in a bleach and water mixture to fight off these infectionsThe chronic inflammation leads to errors in the DNA of the affected skin cells, which in turn causes squamous cell carcinoma (SCC). The majority of these patients die before the age of 30, either of SCC or complications related to DEB.

The chronic inflammatory state seen in recessive dystrophic epidermolysis bullosa (RDEB) may cause Small fiber peripheral neuropathy (SFN).; RDEB patients have reported the sensation of pain in line with neuropathic pain qualities.

Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs.

"Butterfly child" is the colloquial name for a child born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly.

Epidermolysis bullosa (EB) is a group of mainly inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States. It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.

The condition was brought to public attention in 2004 in the UK through the Channel 4 documentary "The Boy Whose Skin Fell Off", chronicling the life and death of Jonny Kennedy, an Englishman with EB. In the United States, the same could be said of the HBO documentary "My Flesh and Blood" from 2003.

"Butterfly Children" is a term often used to describe younger patients (because the skin is said to be as fragile as a butterfly’s wings), "Cotton Wool Babies", or (in South America) as "Crystal Skin Children".

Epidermolysis bullosa refers to a group of disorders that involve the formation of blisters following trivial trauma. Over 300 mutations have been identified in this condition. They have been classified into the following types:

The symptoms of this condition include:

- An upper respiratory tract infection may precede all other symptoms in as many as 69% of patients.

- A single, 2- to (rarely) 10-cm oval red "herald" patch appears, classically on the abdomen. Occasionally, the "herald" patch may occur in a 'hidden' position (in the armpit, for example) and not be noticed immediately. The "herald" patch may also appear as a cluster of smaller oval spots, and be mistaken for acne. Rarely, it does not become present at all.

- 7–14 days after the herald patch, many small (5–10 mm) patches of pink or red, flaky, oval-shaped rash appear on the torso. The more numerous oval patches generally spread widely across the chest first, following the rib-line in a characteristic "christmas-tree" distribution. Small, circular patches may appear on the back and neck several days later.

- In 6% of cases an "inverse" distribution may occur, with rash mostly on the extremities. In children, presentation can be atypical or inverse, and the course is typically milder.

- About one in four people with PR have mild to severe symptomatic itching. (Moderate itching due to skin over-dryness is much more common, especially if soap is used to cleanse the affected areas.) The itching is often non-specific, and worsens if scratched. This tends to fade as the rash develops and does not usually last through the entire course of the disease.

- The rash may be accompanied by low-grade fever, headache, nausea and fatigue.

Pityriasis rosea is a type of skin rash. Classically, it begins with a single red and slightly scaly area known as a "herald patch". This is then followed, days to weeks later, by a pink whole body rash. It typically lasts less than three months and goes away without treatment. Sometime a fever may occur before the start of the rash or itchiness may be present, but often there are few other symptoms.

While the cause is not entirely clear, it is believed to be related to human herpesvirus 6 (HHV6) or human herpesvirus 7 (HHV7). It does not appear to be contagious. Certain medications may result in a similar rash. Diagnosis is based on the symptoms.

Evidence for specific treatment is limited. About 1.3% of people are affected at some point in time. It most often occurs in those between the ages of 10 and 35. The condition was described at least as early as 1798.

Gum recession is generally not an acute condition. In most cases, receding of gums is a progressive condition that occurs gradually over the years. This is one reason that it is common over the age of 40. Because the changes in the condition of the gums from one day to another are minimal, patients get used to the gums' appearance and tend not to notice the recession visually. Receding gums may remain unnoticed until the condition starts to cause symptoms.

The following signs and symptoms may indicate gum recession:

- Tooth mobility

- Dentin hypersensitivity (over-sensitive teeth) - short, sharp pain is triggered by hot, cold, sweet, sour, or spicy food and drink. If the cementum covering the root is not protected anymore by the gums, it is easily abraded exposing the dentin tubules to external stimuli.

- Teeth may also appear longer than normal (a larger part of the crown is visible if gums are receding)

- The roots of the tooth are exposed and visible

- The tooth feels notched at the gum line

- Change in the tooth’s color (due to the color difference between enamel and cementum)

- Spaces between teeth seem to grow (the space is the same, but it seems larger because the gums do not fill it any more)

- Cavities below the gum line

If the gum recession is caused by gingivitis, the following symptoms may also be present:

- Puffy, red, or swollen (inflamed) gums

- Gum bleeding while brushing or flossing

- Bad breath (halitosis)

In some cases, it is the treatment of gingivitis that reveals a gum recession problem, that was previously masked by the gums swelling.

There are many possible causes for gingival recession:

- By far the most common cause is gum disease (periodontal disease).

- Overaggressive brushing is often assumed to cause gum recession, however a systematic review of the literature concludes that "The data to support or refute the association between tooth brushing and gingival recession are inconclusive." A subsequent study found horizontal tooth brushing technique (versus Bass technique or circular methods), medium-hardness toothbrush use and brushing only once daily were associated with gingival recession.

- Hereditary thin, fragile or insufficient gingival tissue predisposes to gingival recession.

- Dipping tobacco, which affects the mucous membrane lining in the mouth and will cause receding gums over time

- Self-inflicted trauma, such as habits like digging a fingernail or pencil into the gum. This type of recession more commonly associated with children and persons with psychiatric disorders.

- Scurvy (lack of dietary vitamin C)

- Acute necrotizing ulcerative gingivitis

- Abnormal tooth position, such as tooth crowding, giving inadequate cover of one or more teeth by the jaw bone.

- Piercings in the lip or tongue that wear away the gum by rubbing against it.

- Intentional gingival retraction. For example, the adult tooth may not grow out of the gum, and to remedy this, a procedure called an exposure is done. It involves the gum tissue being cut open to allow the adult tooth to grow out. This is a less common cause of gum recession.

A cystic nephroma, also known as multilocular cystic nephroma, mixed epithelial stromal tumour (MEST) and renal epithelial stromal tumour (REST), is a type of rare benign kidney tumour.

Symptoms

- Pain right hypochondrium referred to right shoulder

- Pyrexia (100.4 F)

- Profuse sweating and rigors

- Loss of weight

- Earthy complexion

Signs

- Pallor

- Tenderness and rigidity in right hypochondrium

- Palpable liver

- tenderness

- Basal lung signs

Cystic nephromas are often asymptomatic. They are typically discovered on medical imaging incidentally (i.e. an incidentaloma).

A amoebic liver abscess is a type of liver abscess caused by amebiasis. It is the involvement of liver tissue by trophozoites of the organism "Entamoeba histolytica" and of is abscess due to necrosis.

These are the medium term symptoms of patients with diabulimia. They are prevalent when diabulimia has not been treated and hence also include the short term symptoms

- Muscle atrophy

- GERD

- Indigestion

- Severe weight loss

- Proteinuria

- Moderate to severe dehydration

- Edema with fluid replacement

- High cholesterol

These are the short term symptoms of patients with diabulimia

- Constant urination

- Constant thirst

- Excessive appetite

- High blood glucose levels (often over 600 mg/dL or 33 mmol/L)

- Weakness

- Fatigue

- Large amounts of glucose in the urine

- Inability to concentrate

- Electrolyte disturbance

- Severe ketonuria, and, in DKA, severe ketonemia

- Low sodium levels

Pouchitis is inflammation of the ileal pouch (an artificial rectum surgically created out of ileal gut tissue in patients who have undergone a colectomy), which is created in the management of patients with ulcerative colitis, indeterminate colitis, FAP, or, rarely, other colitides.

A variety of pathophysiological mechanisms have been proposed for pouchitis, but the precise pathogenesis (biological cause) remains unknown. A pilot study on the effect of reducing dietary FODMAP intake on bowel function in patients without a colon ran by Croagh C, Shepherd SJ, Berryman M, Muir JG, Gibson PR indicates there might be a relation between Pouchitis and FODMAP content of diets.

The incidence of a first episode of pouchitis at 1, 5 and 10 years post-operatively is 15%, 33% and 45% respectively.

Patients with pouchitis typically present with bloody diarrhea, urgency in passing stools, or discomfort while passing stools. The loss of blood and/or dehydration resulting from the frequent stools will frequently result in nausea. Extreme cramping and pain can occur with pouchitis.

Endoscopy in patients with pouchitis usually reveals erythematous pouch mucosa, loss of pseudocolonic vasculature or other architecture, and friability of the mucosa. Biopsies show evidence of inflammatory cells or red blood cells in the lamina propria.

Once a diagnosis of pouchitis is made, the condition is further classified. The activity of pouchitis is stratified as:

- remission (no active pouchitis).

- mild to moderately active (increased stool frequency, urgency, infrequent incontinence).

- severely active (hospitalised for dehydration, frequent incontinence).

The duration of pouchitis is defined as acute (less than or equal to four weeks) or chronic (four weeks or more) and the pattern classified as infrequent (1-2 acute episodes), relapsing (three or fewer episodes) or continuous. Finally, the response to medical treatment as labelled as treatment responsive or treatment refractory, with the medication for either case being specified.

Cold agglutinin disease can be either primary (arising spontaneously) or secondary (a result of another pathology).

- The primary form is caused by excessive cell proliferation of B lymphocytes.

- Secondary cold agglutinin disease is a result of an underlying condition.

- In adults, this is typically due to a lymphoproliferative disease such as lymphoma and chronic lymphoid leukemia, or infection. Waldenström's macroglobulinemia may also be positive for cold agglutinins.

- In children, cold agglutinin disease is often secondary to an infection, such as "Mycoplasma" pneumonia, mononucleosis, and HIV.

Cold agglutinin disease is an autoimmune disease characterized by the presence of high concentrations of circulating antibodies, usually IgM, directed against red blood cells. It is a form of autoimmune hemolytic anemia, specifically one in which antibodies only bind red blood cells at low body temperatures, typically 28–31 °C.

Cold agglutinin disease was first described in 1957.

Antineoplastic resistance, often used interchangeably with chemotherapy resistance, is the multiple drug resistance of neoplastic (cancerous) cells, or the ability of cancer cells to survive and grow despite anti-cancer therapies.

There are two general causes of antineoplastic therapy failure: Inherent genetic characteristics, giving cancer cells their resistance, which is rooted in the concept of cancer cell heterogeneity and acquired resistance after drug exposure. Altered membrane transport, enhanced DNA repair, apoptotic pathway defects, alteration of target molecules, protein and pathway mechanisms, such as enzymatic deactivation.

Since cancer is a genetic disease, two genomic events underlie acquired drug resistance: Genome alterations (e.g. gene amplification and deletion) and epigenetic modifications.

Cancer cells are constantly using a variety of tools, involving genes, proteins and altered pathways, to ensure their survival against antineoplastic drugs.

The first noticeable symptom of breast cancer is typically a lump that feels different from the rest of the breast tissue. More than 80% of breast cancer cases are discovered when the woman feels a lump. The earliest breast cancers are detected by a mammogram. Lumps found in lymph nodes located in the armpits can also indicate breast cancer.

Indications of breast cancer other than a lump may include thickening different from the other breast tissue, one breast becoming larger or lower, a nipple changing position or shape or becoming inverted, skin puckering or dimpling, a rash on or around a nipple, discharge from nipple/s, constant pain in part of the breast or armpit, and swelling beneath the armpit or around the collarbone. Pain ("mastodynia") is an unreliable tool in determining the presence or absence of breast cancer, but may be indicative of other breast health issues.

Inflammatory breast cancer is a particular type of breast cancer which can pose a substantial diagnostic challenge. Symptoms may resemble a breast inflammation and may include itching, pain, swelling, nipple inversion, warmth and redness throughout the breast, as well as an orange-peel texture to the skin referred to as "peau d'orange". As inflammatory breast cancer does not present as a lump there can sometimes be a delay in diagnosis.

Another reported symptom complex of breast cancer is Paget's disease of the breast. This syndrome presents as skin changes resembling eczema, such as redness, discoloration, or mild flaking of the nipple skin. As Paget's disease of the breast advances, symptoms may include tingling, itching, increased sensitivity, burning, and pain. There may also be discharge from the nipple. Approximately half of women diagnosed with Paget's disease of the breast also have a lump in the breast.

In rare cases, what initially appears as a fibroadenoma (hard, movable non-cancerous lump) could in fact be a phyllodes tumor. Phyllodes tumors are formed within the stroma (connective tissue) of the breast and contain glandular as well as stromal tissue. Phyllodes tumors are not staged in the usual sense; they are classified on the basis of their appearance under the microscope as benign, borderline, or malignant.

Occasionally, breast cancer presents as metastatic disease—that is, cancer that has spread beyond the original organ. The symptoms caused by metastatic breast cancer will depend on the location of metastasis. Common sites of metastasis include bone, liver, lung and brain. Unexplained weight loss can occasionally signal breast cancer, as can symptoms of fevers or chills. Bone or joint pains can sometimes be manifestations of metastatic breast cancer, as can jaundice or neurological symptoms. These symptoms are called "non-specific", meaning they could be manifestations of many other illnesses.

Most symptoms of breast disorders, including most lumps, do not turn out to represent underlying breast cancer. Fewer than 20% of lumps, for example, are cancerous, and benign breast diseases such as mastitis and fibroadenoma of the breast are more common causes of breast disorder symptoms. Nevertheless, the appearance of a new symptom should be taken seriously by both patients and their doctors, because of the possibility of an underlying breast cancer at almost any age.

Chest pain is one of the common symptoms of acute pericarditis. It is usually of sudden onset, occurring in the anterior chest and often has a sharp quality that worsens with breathing in or coughing, due to inflammation of the pleural surface at the same time. The pain may be reduced with sitting up and leaning forward while worsened with lying down, and also may radiate to the back, to one or both trapezius ridges. However, the pain can also be dull and steady, resembling the chest pain in an acute myocardial infarction. As with any chest pain, other causes must also be ruled out, such as GERD, pulmonary embolism, muscular pain, etc.

A pericardial friction rub is a very specific sign of acute pericarditis, meaning the presence of this sign invariably indicates presence of disease. However, absence of this sign does not rule out disease. This rub can be best heard by the diaphragm of the stethoscope at the left sternal border arising as a squeaky or scratching sound, resembling the sound of leather rubbing against each other. This sound should be distinguished from the sound of a murmur, which is similar but sounds more like a "swish" sound than a scratching sound. The pericardial rub is said to be generated from the friction generated by the two inflamed layers of the pericardium; however, even a large pericardial effusion does not necessarily present a rub. The rub is best heard during the maximal movement of the heart within the pericardial sac, namely, during atrial systole, ventricular systole, and the filling phase of early ventricular diastole.

Fever may be present since this is an inflammatory process.

Triple-negative breast cancer (sometimes abbreviated TNBC) refers to any breast cancer that does not express the genes for estrogen receptor (ER), progesterone receptor (PR) or Her2/neu. This makes it more difficult to treat since most hormone therapies target one of the three receptors, so triple-negative cancers often require combination therapies. Triple negative is sometimes used as a surrogate term for basal-like; however, more detailed classification may provide better guidance for treatment and better estimates for prognosis.

Triple-negative breast cancers comprise a very heterogeneous group of cancers. There are conflicting information over prognosis for the various subtypes but it appears that the Nottingham prognostic index is valid and hence general prognosis is rather similar with other breast cancer of same stage, except that more aggressive treatment is required. Some types of triple-negative breast cancer are known to be more aggressive with poor prognosis, while other types have very similar or better prognosis than hormone receptor positive breast cancers. Pooled data of all triple-negative subtypes suggest that with optimal treatment 20-year survival rates are very close to those of hormone positive cancer.

Triple-negative breast cancers have a relapse pattern that is very different from hormone-positive breast cancers: the risk of relapse is much higher for the first 3–5 years but drops sharply and substantially below that of hormone-positive breast cancers after that. This relapse pattern has been recognized for all types of triple-negative cancers for which sufficient data exists although the absolute relapse and survival rates differ across subtypes.

Palindromic rheumatism is a rare type of inflammatory arthritis which causes sudden inflammation in one or several joints, lasts a few hours or up to a few days, and then goes away completely. The problem usually involves 2 or 3 joints, which have onset over hours and last days to weeks, before subsiding. However episodes of recurrence form a pattern, with symptom-free periods between attacks lasting for weeks to months. The large joints are most commonly involved. Constitutionally, there may or may not be a fever, and swelling of the joints. The soft tissues are involved with swelling of the periarticular tissues, especially heel pads and finger pads. Nodules may be found in the subcutaneous tissues.Attacks may become more frequent with time but there is no joint damage after attacks.

It typically affects people between the ages of 20 and 50. One study showed an average age of onset of 49.

Chest pain is a major indication of coronary ischemia. If chest pain occurs while exercising, or during sex, but it doesn't persist after rest, it may be coronary ischemia, or what is called, "angina". Some people characterize the pain they feel as though an elephant is sitting on their chest.

Other typical symptoms include diaphoresis which is sweaty palms, and clammy skin, nausea or vomiting, or shortness of breath. Chest pain radiating down the left arm is also a symptom of coronary ischemia and the pain can also be radiating directly to the back in some instances.

Most atypical symptoms are seen in women, diabetics, and the elderly more than anyone else.

These type of symptoms include stomach pain, and simply fatigue. It can also include heartburn and anxiety.

If no symptoms are present it is called silent ischemia.