Ichthyosis – Diagnosis and Treatment

Definition of Ichthyosis Ichthyosis is a genetic disorder of keratinization in which the cells the skin sheds as part of its continual renewal cluster on the skin’s surface in scalelike formations. The lesions itch and flake, and the involved surfaces of the skin become very dry, reddened, and inflamed. Ichthyosis may affect limited areas of the skin or most […]

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Phenylketonuria (PKU) – Symptoms and Treatment

Phenylketonuria Definition An inherited genetic disorder in which the enzyme phenylalanine hydroxylase is missing or severely deficient, preventing the metabolism of the essential amino acid (one the body must acquire from dietary sources) phenylalanine. Phenylalanine is common in all foods that contain protein (such as meats, dairy products, fish, and legumes) and in artificial sweeteners […]

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Pemphigus – Vulgaris, Foliaceus, Pemphigus – Definition

Definition of Pemphigus Pemphigus is an autoimmune disorder in which large, painful bullae (blisters) form on the skin and mucous membranes. The bullae develop within the epidermis, the skin’s uppermost layer, giving them a very thin surface. They rupture and tear easily, exposing the skin to infection and interfering with the skin’s ability to carry out its numerous functions. The ruptured […]

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Porphyria – Symptoms and Treatment

Porphyria Definition Porphyria – The collective term for a group of eight inherited genetic disorders of metabolism in which deficiencies of certain enzymes block the production of heme and allow the accumulation of porphyrins. Heme is an iron-containing pigment normally present in nearly all tissues in the body, notably as a component of hemoglobin in the blood and of electron […]

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Familial Adenomatous Polyposis (FAP)

Familial Adenomatous Polyposis Definition A genetic disorder in which hundreds of intestinal polyps grow in the rectum and colon. FAP is an extreme risk for early-onset colorectal cancer. This autosomal dominant disorder results from a defective gene, inherited from one parent, in which there is a mutation of the adenomatous polyposis coli (APC) gene. The ACP gene regulates the […]

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Progeria Disease

Progeria Definition and Diagnostic Path A very rare genetic disorder, commonly called severe premature aging, that arises from a mutation in a single gene on chromosome 1 called lamin A (LMNA). The gene encodes a protein, also called lamin A, that is important for proper functioning of the membrane of the cell nucleus. In progeria this protein is abnormal, resulting in rapid […]

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Autosomal Trisomy – Definiton

Autosomal Trisomy Definition Autosomal Trisomy is a chromosomal disorder in which there are three instead of the normal two copies of an autosome (nonsex chromosome). An autosomal trisomy may be complete (affect all cells) or mosaic (affect only some cells). The most commonly occurring complete autosomal trisomies that are survivable are those involving chromosomes 21, 18, […]

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Syndrome horm. secr. SIADH

What is SIADH Syndrome and Definition The SIADH is characterized by enormous release of antidiuretic hormone from the posterior pituitary gland. It is the most common cause of euvolemic hyponatremia in hospitalized patients. The syndrome is associated with patients that have pneumonia, brain tumors, head trauma, strokes, meningitis, encephalitis, small-cell carcinoma of the lung, Hodgkin […]

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Chromosomal Disorders – list, types, structure, symptoms and treatment

Chromosomal Disorders Definition Chromosomal Disorders – abnormalities affecting the chromosomes that result in syndromes (constellations of symptoms) having characteristic physical or functional anomalies. Most chromosomal disorders occur because of alterations in the number of chromosomes or the structure of chromosomes. Though an individual may inherit a chromosomal disorder, more commonly chromosomal disorders represent random occurrences. Typically […]

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Tay-Sachs Disease – Symptoms and Treatment

Tay-Sachs Disease Definition An inherited genetic disorder that causes a progressive, fatal form of gangliosidosis (the accumulation of gangliosides within nerve cells). Tay-Sachs disease involves mutations of a pair of genes on chromosome 15 that encode for the enzyme hexosaminidase-A (hex-A). The mutation blocks production of hex-A. The body requires hex-A to metabolize GM2 ganglioside, a fatty acid […]

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