Birt–Hogg–Dubé Syndrome
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Birt–Hogg–Dubé Syndrome
Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas. The symptoms seen in each family are unique, and can include any combination of the three symptoms. Fibrofolliculomas are the most common manifestation, found on the face and upper trunk in over 80% of people with BHD over the age of 40. Pulmonary cysts are equally common (84%), but only 24% of people with BHD eventually experience a collapsed lung (spontaneous pneumothorax). Kidney tumors, both cancerous and benign, occur in 14–34% of people with BHD; the associated kidney cancers are often rare hybrid tumors. Any of these conditions that occurs in a family can indicate a diagnosis of Birt–Hogg–Dubé syndr ...
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Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ...
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Medical Imaging
Medical imaging is the technique and process of imaging the interior of a body for clinical analysis and medical intervention, as well as visual representation of the function of some organs or tissues (physiology). Medical imaging seeks to reveal internal structures hidden by the skin and bones, as well as to diagnose and treat disease. Medical imaging also establishes a database of normal anatomy and physiology to make it possible to identify abnormalities. Although imaging of removed organs and tissues can be performed for medical reasons, such procedures are usually considered part of pathology instead of medical imaging. Measurement and recording techniques that are not primarily designed to produce images, such as electroencephalography (EEG), magnetoencephalography (MEG), electrocardiography (ECG), and others, represent other technologies that produce data susceptible to representation as a parameter graph versus time or maps that contain data about the measurement loca ...
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Buccal Mucosa
The oral mucosa is the mucous membrane lining the inside of the mouth. It comprises stratified squamous epithelium, termed "oral epithelium", and an underlying connective tissue termed ''lamina propria''. The oral cavity has sometimes been described as a mirror that reflects the health of the individual. Changes indicative of disease are seen as alterations in the oral mucosa lining the mouth, which can reveal systemic conditions, such as diabetes or vitamin deficiency, or the local effects of chronic tobacco or alcohol use. The oral mucosa tends to heal faster and with less scar formation compared to the skin. The underlying mechanism remains unknown, but research suggests that extracellular vesicles might be involved. Classification Oral mucosa can be divided into three main categories based on function and histology: *Lining mucosa, nonkeratinized stratified squamous epithelium, found almost everywhere else in the oral cavity, including the: **Alveolar mucosa, the lining between ...
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Papules
A papule is a small, well-defined bump in the skin. It may have a rounded, pointed or flat top, and may have a dip. It can appear with a stalk, be thread-like or look warty. It can be soft or firm and its surface may be rough or smooth. Some have crusts or scales. A papule can be flesh colored, yellow, white, brown, red, blue or purplish. There may be just one or many, and they may occur irregularly in different parts of the body or appear in clusters. It does not contain fluid but may progress to a pustule or vesicle. A papule is smaller than a nodule; it can be as tiny as a pinhead and is typically less than 1 cm in width, according to some sources, and 0.5 cm according to others. When merged together, it appears as a plaque. Its color might indicate its cause, such as white in milia, red in eczema, yellowish in xanthoma and black in melanoma. They may open when scratched and become infected and crusty. Definition A papule is a small, well-defined bump in the s ...
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Perifollicular Fibroma
Perifollicular fibroma is a cutaneous condition, a benign tumor usually skin colored, most often affecting the face and upper trunk. See also * Birt–Hogg–Dubé syndrome * List of skin conditions Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against ... References Epidermal nevi, neoplasms, and cysts {{Epidermal-growth-stub ...
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Angiofibroma
Angiofibroma (AGF) is a descriptive term for a wide range of benign skin or mucous membrane (i.e. the outer membrane lining body cavities such as the mouth and nose) lesions in which individuals have: 1) benign papules, i.e. pinhead-sized elevations that lack visible evidence of containing fluid; 2) nodules, i.e. small firm lumps usually >0.1 cm in diameter; and/or 3) tumors, i.e. masses often regarded as ~0.8 cm or larger. AGF lesions share common macroscopic (i.e. gross) and microscopic appearances. Grossly, AGF lesions consist of multiple papules, one or more skin-colored to erythematous, dome-shaped nodules, or usually just a single tumor. Microscopically, they consist of spindle-shaped and stellate-shaped cells centered around dilated and thin-walled blood vessels in a background of coarse bundles of collagen (i.e. the main fibrous component of connective tissue). Angiofibromas have been divided into different types but commonly a specific type was given multiple a ...
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Hair Disc
The hair disc is a receptor complex found in hairy skin Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation. Other cuticle, animal coverings, such as the arthropod exoskeleton, have diffe .... References Dermatology {{dermatology-stub ...
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Trichodiscoma
A trichodiscoma is a cutaneous condition, a benign, usually skin-colored tumor most often affecting the face and upper trunk. See also * Birt–Hogg–Dubé syndrome * Fibrofolliculoma * List of cutaneous conditions * List of cutaneous neoplasms associated with systemic syndromes Many cutaneous neoplasms occur in the setting of systemic syndromes. See also * List of cutaneous conditions * List of contact allergens * List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer *List of cutane ... References External links Epidermal nevi, neoplasms, and cysts {{Epidermal-growth-stub ...
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Psychological Distress
Mental distress or psychological distress encompasses the symptoms and experiences of a person's internal life that are commonly held to be troubling, confusing or out of the ordinary. Mental distress can potentially lead to a change of behavior, affect a person's emotions in a negative way, and affect their relationships with the people around them. Certain traumatic life experiences (such as bereavement, stress, lack of sleep, use of drugs, assault, abuse, or accidents) can induce mental distress. Those who are members of vulnerable populations might experience discrimination that places them at increased risk for experiencing mental distress as well. This may be something which resolves without further medical intervention, though people who endure such symptoms longer term are more likely to be diagnosed with mental illness. This definition is not without controversy as some mental health practitioners would use the terms "mental distress" and "mental disorder" interchangeably. ...
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Sebum
A sebaceous gland is a microscopic exocrine gland in the skin that opens into a hair follicle to secrete an oily or waxy matter, called sebum, which lubricates the hair and skin of mammals. In humans, sebaceous glands occur in the greatest number on the face and scalp, but also on all parts of the skin except the palms of the hands and soles of the feet. In the eyelids, meibomian glands, also called tarsal glands, are a type of sebaceous gland that secrete a special type of sebum into tears. Surrounding the female nipple, areolar glands are specialized sebaceous glands for lubricating the nipple. Fordyce spots are benign, visible, sebaceous glands found usually on the lips, gums and inner cheeks, and genitals. Structure Location Sebaceous glands are found throughout all areas of the skin, except the palms of the hands and soles of the feet. There are two types of sebaceous glands, those connected to hair follicles and those that exist independently. Sebaceous glands ...
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Epidermoid Cyst
An epidermoid cyst or epidermal inclusion cyst is a benign cyst usually found on the skin. The cyst develops out of ectodermal tissue. Histologically, it is made of a thin layer of squamous epithelium. Signs and symptoms The epidermoid cyst may have no symptoms, or it may be painful when touched. It can release macerated keratin. In contrast to pilar cysts, epidermoid cysts are usually present on parts of the body with relatively little hair. An epidermoid cyst is one type of vaginal cysts. Although they are not malignant, there are rare cases of malignant tumors arising from an epidermoid cyst. Epidermal inclusion cysts account for approximately 85–95% of all excised cysts, malignant transformation is exceedingly rare. The incidence of squamous cell carcinoma developing from an epidermal inclusion cyst has been estimated to range from 0.011 to 0.045%. Diagnosis Epidermoid cysts are usually diagnosed when a person notices a bump on their skin and seeks medical attention. The d ...
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Keratin
Keratin () is one of a family of structural fibrous proteins also known as ''scleroproteins''. Alpha-keratin (α-keratin) is a type of keratin found in vertebrates. It is the key structural material making up scales, hair, nails, feathers, horns, claws, hooves, and the outer layer of skin among vertebrates. Keratin also protects epithelial cells from damage or stress. Keratin is extremely insoluble in water and organic solvents. Keratin monomers assemble into bundles to form intermediate filaments, which are tough and form strong unmineralized epidermal appendages found in reptiles, birds, amphibians, and mammals. Excessive keratinization participate in fortification of certain tissues such as in horns of cattle and rhinos, and armadillos' osteoderm. The only other biological matter known to approximate the toughness of keratinized tissue is chitin. Keratin comes in two types, the primitive, softer forms found in all vertebrates and harder, derived forms found only amon ...
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