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Hemosiderosis (AmE) or haemosiderosis (BrE) is a form of iron overload disorder resulting in the accumulation of hemosiderin.
Types include:
- Transfusion hemosiderosis
- Idiopathic pulmonary hemosiderosis
- Transfusional diabetes
Hemosiderin deposition in the lungs is often seen after diffuse alveolar hemorrhage, which occurs in diseases such as Goodpasture's syndrome, granulomatosis with polyangiitis, and idiopathic pulmonary hemosiderosis. Mitral stenosis can also lead to pulmonary hemosiderosis. Hemosiderin collects throughout the body in hemochromatosis. Hemosiderin deposition in the liver is a common feature of hemochromatosis and is the cause of liver failure in the disease. Selective iron deposition in the beta cells of pancreatic islets leads to diabetes due to distribution of transferrin receptor on the beta cells of islets and in the skin leads to hyperpigmentation. Hemosiderin deposition in the brain is seen after bleeds from any source, including chronic subdural hemorrhage, cerebral arteriovenous malformations, cavernous hemangiomata. Hemosiderin collects in the skin and is slowly removed after bruising; hemosiderin may remain in some conditions such as stasis dermatitis. Hemosiderin in the kidneys has been associated with marked hemolysis and a rare blood disorder called paroxysmal nocturnal hemoglobinuria.
Hemosiderin may deposit in diseases associated with iron overload. These diseases are typically diseases in which chronic blood loss requires frequent blood transfusions, such as sickle cell anemia and thalassemia, though beta thalassemia minor has been associated with hemosiderin deposits in the liver in those with non-alcoholic fatty liver disease independent of any transfusions.
Idiopathic pulmonary haemosiderosis (or idiopathic pulmonary hemosiderosis; IPH) is a lung disease of unknown cause that is characterized by alveolar capillary bleeding and accumulation of haemosiderin in the lungs. It is rare, with an incidence between 0.24 and 1.23 cases per million people.
The presentation of this disorder entails anemia, arthritis, hepatic anomalies, and recurrent infections are clinical signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas, thyroid, and kidney
There are several methods available for diagnosing and monitoring hemosiderosis including:
- Serum ferritin
- Liver biopsy
- MRI
Serum ferritin is a low cost, readily available, and minimally invasive method for assessing body iron stores. However, the major problem with using it as an indicator of hemosiderosis is that it can be elevated in a range of other medical conditions unrelated to iron levels including infection, inflammation, fever, liver disease, renal disease and cancer.
While liver biopsies provide a direct measure of liver iron concentration, the small sample size relative to the size of the liver can lead to sampling errors given the heterogeneity of iron concentration within the liver. Furthermore, the invasive nature of liver biopsy and the associated risks of complications (which can range from pain, haemorrhage, gallbladder perforation and other morbidities through to death in approx 1 in 10,000 cases) prevent it being used as a regular monitoring tool.
MRI is emerging as an alternative method for measuring liver iron loading because it is non-invasive, safer and generally cheaper to perform than liver biopsy; does not suffer from problems with sampling variability; and can be used more frequently than performing liver biopsies.
Atransferrinemia, also called familial hypotransferrinemia, is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood.
Atransferrinemia is characterized by anemia and hemosiderosis in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale). Atransferrinemia was first described in 1961 and is extremely rare, with only ten documented cases worldwide.
Hepatomegaly is the condition of having an enlarged liver. It is a non-specific medical sign having many causes, which can broadly be broken down into infection, hepatic tumours, or metabolic disorder. Often, hepatomegaly will present as an abdominal mass. Depending on the cause, it may sometimes present along with jaundice.
Symptoms having to do with hepatomegaly can include several, among them the individual may experience some weight loss, poor appetite and lethargy (jaundice and bruising may also be present)
Clinically, IPH manifests as a triad of haemoptysis, diffuse parenchymal infiltrates on chest radiographs, and iron deficiency anaemia. It is diagnosed at an average age of 4.5 plus or minus 3.5 years, and it is twice as common in females. The clinical course of IPH is exceedingly variable, and most of the patients continue to have episodes of pulmonary haemorrhage despite therapy. Death may occur suddenly from acute pulmonary haemorrhage or after progressive pulmonary insufficiency resulting in chronic respiratory failure.
Heredofamilial amyloidosis is an inherited condition that may be characterized by systemic or localized deposition of amyloid in body tissues.
Superficial siderosis is characterized by many symptoms resulting from brain damage:
- Sensorineural hearing loss- This is the most common symptom associated with superficial siderosis and its absence is rare. The highest pitches are often lost first, and over a period of one to twelve years hearing loss progresses to total deafness or loss of all hearing but low pitches.
- Ataxia- The impairment of gait, which is the second most common symptom.
- Pyramidal signs- Various signs that indicate a condition of the pyramidal tracts.
- Dementia- Occurs in approximately one-quarter of those affected by superficial siderosis.
- Disturbances of the bladder
- Anosmia- Loss of sense of smell.
- Anisocoria- Unequal size of pupils.
Localized lichen myxedematosus is a group of skin condition caused by fibroblasts producing abnormally large amounts of mucopolysaccharides, a disease for which there is no treatment.
Characteristics may vary according to the subtype of pustular psoriasis. For example, it can be localized, commonly to the hands and feet (localized pustular psoriasis), or generalized with widespread patches occurring randomly on any part of the body (generalized pustular psoriasis). However, all forms of pustular psoriasis share in common the presence of red and tender blotchy skin covered with pustules.
Pustular psoriasis can be localized, commonly to the hands and feet (palmoplantar pustulosis), or generalized with widespread patches occurring randomly on any part of the body. Acrodermatitis continua is a form of localized psoriasis limited to the fingers and toes that may spread to the hands and feet. Pustulosis palmaris et plantaris is another form of localized pustular psoriasis similar to acrodermatitis continua with pustules erupting from red, tender, scaly skin found on the palms of the hands and the soles of the feet.
Generalized pustular psoriasis (GPP) is also known as (von Zumbusch) acute generalized pustular psoriasis in acute cases, and as impetigo herpetiformis during pregnancy. GPP is a rare and severe form of psoriasis that may require hospitalization. This form of psoriasis is characterized by an acute onset of numerous pustules on top of tender red skin. This skin eruption is often accompanied by a fever, muscle aches, nausea, and an elevated white blood cell count. Annular pustular psoriasis (APP), a rare form of GPP, is the most common type seen during childhood. APP tends to occur in women more frequently than in men, and is usually less severe than other forms of generalized pustular psoriasis such as impetigo herpetiformis. This form of psoriasis is characterized by ring-shaped plaques with pustules around the edges and yellow crusting. APP most often affects the torso, neck, arms, and legs.
Alveolar disease is visible on chest radiography as small, ill-defined nodules of homogeneous density centered on the acini or bronchioles. The nodules coalesce early in the course of disease, such that the nodules may only be seen as soft fluffy edges in the periphery.
When the nodules are centered on the hilar regions, the chest x-ray may develop what is called the "butterfly," or "batwing" appearance. The nodules may also have a segmental or lobar distribution. Air alveolograms and air bronchograms can also be seen.
These findings appear soon after the onset of symptoms and change rapidly thereafter.
A segmental or lobar pattern may be apparent after aspiration pneumonia, atelectasis, lung contusion, localized pulmonary edema, obstructive pneumonia, pneumonia, pulmonary embolism with infarction, or tuberculosis.
Superficial hemosiderosis of the central nervous system is a disease of the brain resulting from chronic iron deposition in neuronal tissues associated with cerebrospinal fluid. This occurs via the deposition of hemosiderin in neuronal tissue, and is associated with neuronal loss, gliosis, and demyelination of neuronal cells. This disease was first discovered in 1908 by R.C. Hamill after performing an autopsy. Detection of this disease was largely post-mortem until the advent of MRI technology, which made diagnosis far easier. Superficial siderosis is largely considered a rare disease, with less than 270 total reported cases in scientific literature as of 2006, and affects people of a wide range of ages with men being approximately three times more frequently affected than women. The number of reported cases of superficial siderosis has increased with advances in MRI technology, but it remains a rare disease.
The histology of lichen nitidus is significant for a "...localized granulomatous lymphohistiocytic infiltrate in an expanded dermal papilla with thinning of overlying epidermis and downward extension of the ridges at the lateral margin of the infiltrate, producing a typical 'claw clutching a ball' picture..."
Linear arrangements of these papules is common (referred to as a Koebner phenomenon), especially on the forearms, but may occasionally be grouped, though not confluent, on flexural areas. Generally, the initial lesions are localized, and remain so, to the chest, abdomen, glans penis, and flexor aspects of the upper extremities; however, less commonly, the disease process can (1) be strictly isolated to the palms and soles, presenting with many hyperkeratotic, yellow papules that may coalesce into plaques that fissure or “...sometimes a non-specific keratoderma resembling chronic eczema,” or (2) become more widespread, with papules widely distributed on the body—the extensor surfaces of the elbows, wrists, and hands, folds of the neck, submammary region in females, groin, thighs, ankles, and feet—and fusing into erythematous, minimally scaled plaques, with reddness that develops tints of violet, brown, and yellow.
Alveolar lung disease may be divided into acute or chronic. Causes of acute alveolar lung disease include pulmonary edema (cardiogenic or neurogenic), pneumonia (bacterial or viral), pulmonary embolism, systemic lupus erythematosus, bleeding in the lungs (e.g., Goodpasture syndrome), idiopathic pulmonary hemosiderosis, and granulomatosis with polyangiitis.
Chronic alveolar lung disease can be caused by pulmonary alveolar proteinosis, alveolar cell carcinoma, mineral oil pneumonia, sarcoidosis (alveolar form), lymphoma, tuberculosis, metastases, or desquamative interstitial pneumonia.
Transfusional hemosiderosis is the accumulation of iron in the liver and heart but also endocrine organs, in patients who receive or did receive frequent blood transfusions (such as those with thalassemia, sickle cell disease, leukemia, aplastic anemia or myelodysplastic syndrome).
Pulmonary hyalinizing granuloma is characterized by localized changes in lung architecture determinated by deposition of hyaline collagenous fibrosis accompanied by sparse lymphocytic infiltrate that compresses and distorts the remaining bronchioles. A higher magnification, the mass is composed by hypocellular collagen lamellae.
Pustular psoriasis is classified into two major forms: localized and generalized pustular psoriasis. Within these two categories there are several variants:
Pulmonary hyalinizing granuloma is a lesional pattern of pulmonary inflammatory pseudotumor.
Acral persistent papular mucinosis is a skin condition caused by fibroblasts producing abnormally large amounts of mucopolysaccharides, characterized by bilaterally symmetrical, flesh-colored papules localized to the hands and wrists.
Pemphigus vegetans is a localized form of pemphigus vulgaris.
in which there is a localized vegetating papillomatous response. The eroded areas do not heal like usual but form papillomatous growth and vegetation.
Accounts for 1-2% of pemphigus cases and is a relatively benign variant of pemphigus vulgaris.
Two forms are recognized:
- "Pemphigus vegetans of Neumann" is a localized disease of pemphigus vulgaris slightly more extensive than pemphigus vegetans of Hallopeau. This type is more common and characterized by early lesions similar to Pemphigus Vulgaris with large bullae and erosive areas. Healing is through formation of granulation tissue. It is named for the Austrian Dermatologist, Isidor Neumann.
- "Pemphigus vegetans of Hallopeau" is a disease of localized pemphigus vulgaris. It is named for François Henri Hallopeau. This type is less aggressive and has pustules not bullae. These pustules heal by verrucios hyperkeratotic vegetations.
Neutrophilic dermatosis of the dorsal hands (also known as "Pustular vasculitis of the dorsal hands") is a skin condition that presents with edematous pustular or ulcerative nodules or plaques localized to the dorsal hands.
Nutritional deficiency eczema is a pattern of eczema with localized, thickened, scaling patches that have some characteristics of nummular eczema, seborrheic dermatitis, and neurodermatitis that may be seen in alcoholics.