Presentation
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| Sulfatidosis | |
|---|---|
| Specialty | Endocrinology |
Sulfatidosis is a form of lysosomal storage disease resulting in a proliferation of sulfatide.
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It is caused by a genetic insufficiency of sulfatase enzymes. [1]
Metachromatic leukodystrophy and multiple sulfatase deficiency are classified as sulfatidoses. [2] [3]
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Lisch nodule, also known as iris hamartoma, is a pigmented hamartomatous nodular aggregate of dendritic melanocytes affecting the iris, named after Austrian ophthalmologist Karl Lisch (1907–1999), who first recognized them in 1937.
Dactylitis or sausage digit is inflammation of an entire digit, and can be painful.
Angiomas are benign tumors derived from cells of the vascular or lymphatic vessel walls (endothelium) or derived from cells of the tissues surrounding these vessels.
A fatty streak is the first grossly visible lesion in the development of atherosclerosis. It appears as an irregular yellow-white discoloration on the luminal surface of an artery. It consists of aggregates of foam cells, which are lipoprotein-loaded macrophages, located in the intima, the innermost layer of the artery, beneath the endothelial cells that layer the lumina through which blood flows. Fatty streaks may also include T cells, aggregated platelets, and smooth muscle cells. Although fatty streaks can develop into atheromas, not all are destined to become advanced lesions.
Erythema induratum is a panniculitis on the calves. It occurs mainly in women, but it is very rare now. Historically, when it has occurred, it has often been concomitant with cutaneous tuberculosis, and it was formerly thought to be always a reaction to the TB bacteria. It is now considered a panniculitis that is not associated with just a single defined pathogen. The medical eponym Bazin disease was historically synonymous, but it applies only to the tuberculous form and is dated.
Warm antibody autoimmune hemolytic anemia (WAIHA) is the most common form of autoimmune haemolytic anemia. About half of the cases are of unknown cause, with the other half attributable to a predisposing condition or medications being taken. Contrary to cold autoimmune hemolytic anemia which happens in cold temperature (28–31 °C), WAIHA happens at body temperature.
A thyroid adenoma is a benign tumor of the thyroid gland, that may be inactive or active as a toxic adenoma.
In pathology, Anitschkowcells are often cells associated with rheumatic heart disease. Anitschkow cells are enlarged macrophages found within granulomas associated with the disease.
Obstructive uropathy is a structural or functional hindrance of normal urine flow, sometimes leading to renal dysfunction.
Acantholysis is the loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes, seen in diseases such as pemphigus vulgaris. It is absent in bullous pemphigoid, making it useful for differential diagnosis.
Dyskeratosis is abnormal keratinization occurring prematurely within individual cells or groups of cells below the stratum granulosum.
Papillomatosis is skin surface elevation caused by hyperplasia and enlargement of contiguous dermal papillae. These papillary projections of the epidermis form an undulating surface under microscopic examination.
Spongiosis is mainly intercellular edema in the epidermis, and is characteristic of eczematous dermatitis, manifested clinically by intraepidermal vesicles, "juicy" papules, and/or lichenification. It is a severe case of eczema that affects the epidermis, dermis or subcutaneous skin tissues. The three types of spongiotic dermatitis are acute, subacute and chronic. A dermatologist can diagnose acute spongiotic dermatitis by examining the skin during an office visit, but a biopsy is needed for an accurate diagnosis of the type.
Hydropic swelling is intracellular edema of keratinocytes, often seen with viral infections.
Exocytosis is infiltration of the epidermis by inflammatory or circulating blood cells.
Respiratory bronchiolitis is a lung disease associated with tobacco smoking. In pathology, it is defined by the presence of "smoker's macrophages". When manifesting significant clinical symptoms it is referred to as respiratory bronchiolitis interstitial lung disease (RB-ILD).
CFU-Meg is a colony forming unit. Haematopoiesis in the bone marrow starts off from a haematopoietic stem cell (HSC) and this can differentiate into the myeloid and lymphoid cell lineages. In order to eventually produce a megakaryocyte, the haematopoietic stem cell must generate myeloid cells, so it becomes a common myeloid progenitor, CFU-GEMM. This in turn develops into CFU-Meg, which is the colony forming unit that leads to the production of megakaryocytes.
CFU-Baso is a colony forming unit that gives rise to basophils. Some sources use the term "CFU-Bas".
CFU-Eo is a colony forming unit that gives rise to eosinophils. Some sources prefer the term "CFU-Eos". It is also known as "hEoP".
Nonthrombocytopenic purpura is a type of purpura not associated with thrombocytopenia.
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