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Angiofibroma (AGF) is a descriptive term for a wide range of benign skin or
mucous membrane A mucous membrane or mucosa is a membrane that lines various cavities in the body of an organism and covers the surface of internal organs. It consists of one or more layers of epithelial cells overlying a layer of loose connective tissue. It ...
(i.e. the outer membrane lining body cavities such as the mouth and nose)
lesion A lesion is any damage or abnormal change in the tissue of an organism, usually caused by injury or diseases. The term ''Lesion'' is derived from the Latin meaning "injury". Lesions may occur in both plants and animals. Types There is no de ...
s in which individuals have: # benign
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 ...
, i.e. pinhead-sized elevations that lack visible evidence of containing fluid; #
nodule Nodule may refer to: * Nodule (geology), a small rock or mineral cluster * Manganese nodule, a metallic concretion found on the seafloor *Nodule (medicine), a small aggregation of cells *Root nodule Root nodules are found on the roots of plants, ...
s, i.e. small firm lumps usually > 1 mm in diameter; and/or # tumors, i.e. masses often regarded as ~8 mm or larger.


Diagnosis

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 Collagen () is the main structural protein in the extracellular matrix of the connective tissues of many animals. It is the most abundant protein in mammals, making up 25% to 35% of protein content. Amino acids are bound together to form a trip ...
(i.e. the main fibrous component of
connective tissue Connective tissue is one of the four primary types of animal tissue, a group of cells that are similar in structure, along with epithelial tissue, muscle tissue, and nervous tissue. It develops mostly from the mesenchyme, derived from the mesod ...
). Angiofibromas have been divided into different types but commonly a specific type was given multiple and very different names in different studies.


Cutaneous angiofibroma

These papule, nodule, and/or tumor lesions occur on the: 1) face and are typically termed fibrous papules; 2) penis and are typically termed pearly penile papules; and 3) underneath a fingernail or toenail and are typically termed periungual angiofibromas. Some of these cutaneous AGF lesions occur in individuals with one or more of 3 different
genetic diseases A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are ...
:
tuberous sclerosis Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combinatio ...
, multiple endocrine neoplasia type 1, and Birt-Hogg-Dube syndrome. The following are examples of these cutaneous angiofibromas and their alternate names.


Fibrous papules

Fibrous papules are also termed facial angiofibromas and were formerly and incorrectly termed adenoma sebaceum (fibrous papules are unrelated to sebaceous glands). They develop in up to 8% of the general adult population and occur as 1 to 3 pink to red, dome-shaped papules in the central areas of the face, nose, and/or lips. About 75% of individuals with tuberous sclerosis present with fibrous papules in their infancy or early childhood; when associated with this rare disease, the lesions often occur as multiple papules in symmetrical, butterfly-shaped patterns over both cheeks and the nose. Fibrous papules also occur in individuals with multiple endocrine neoplasia type 1 (a study done in Japan found that 43% of individuals with this genetic disease bore facial angiofibromas) and, uncommonly, in individuals with Birt-Hogg-Dube syndrome.


Pearly penile papules

Pearly penile papules are also termed and . The condition of having such papules or papillae is called or or . These lesions develop in up to 30% of males during their puberty or, less commonly, early adulthood. They typically occur as numerous white-colored to skin-colored papules located circumferentially around the corona of the penis or, less commonly, the ventromedial aspect of the corona near the penis's frenulum. ( Vestibular papillomatosis, also named hirsutoid vulvar papillomas, vulvar squamous papillomatosis, micropapillomatosis labialis, and squamous vestibular micropapilloma, is the female equivalent of pearly penile papules in men. It has not been formally termed an angiofibroma.)


Periungual angiofibromas

Periungual angiofibromas are also termed Koenen's tumors, periungual fibromas, and subungual fibromas. In addition, these tumors were formerly regarded as a type of acral angiofibroma (see below description). These lesions present as multiple nodules or tumors under multiple finger and/or toe nails of individuals with tuberous sclerosis or in one case the Birt-Hogg-Dube syndrome. Periungual angiofibromas have also been reported to occur in individuals that do not have these genetic diseases. Periungual angiofibromas tumors can be highly mutilating finger/toe-nail lesions.


Oral fibromas

Oral fibromas are also termed irritation fibromas, focal fibrous hyperplasia, and traumatic fibromas. Topic Completed: 26 October 2020. Minor changes: 26 October 2020 These lesions are nodules that occur on the buccal mucosa (i.e. mucous membranes lining the cheeks and back of the lips) or lateral tongue. They may be irritating or asymptomatic and are the most common tumor-like lesions in the oral cavity. Oral fibromas are not
neoplasm A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists ...
s; they are hyperplastic (i.e. overgrowth) reactions of fibrous tissue to local trauma or chronic irritation.


Nasopharyngeal angiofibromas

Nasopharyngeal angiofibromas, also termed juvenile nasopharyngeal angiofibromas, fibromatous hamartomas, or angiofibromatous hamartoma of the nasal cavity, are large benign tumors (average size 5.9 cm in one study) that develop almost exclusively in males aged 9 to 36 years old. They commonly arise in the
nasopharynx The pharynx (: pharynges) is the part of the throat behind the mouth and nasal cavity, and above the esophagus and trachea (the tubes going down to the stomach and the lungs respectively). It is found in vertebrates and invertebrates, though its ...
(i.e. upper part of the throat that lies behind the nose) and typically have attachments to the
sphenopalatine foramen The sphenopalatine foramen is a foramen of the skull that connects the nasal cavity and the pterygopalatine fossa. It gives passage to the sphenopalatine artery, nasopalatine nerve, and the superior nasal nerve (all passing from the pterygopala ...
, clivus, and/or root of the pterygoid processes of the sphenoid bone. These tumors may expand into various other nearby structures including the
cranial cavity The cranial cavity, also known as intracranial space, is the space within the skull that accommodates the brain. The skull is also known as the cranium. The cranial cavity is formed by eight cranial bones known as the neurocranium that in human ...
. Nasopharyngeal angiofibromas are highly vascularized tumors consisting of
fibroblast A fibroblast is a type of cell (biology), biological cell typically with a spindle shape that synthesizes the extracellular matrix and collagen, produces the structural framework (Stroma (tissue), stroma) for animal Tissue (biology), tissues, and ...
s (i.e.
connective tissue Connective tissue is one of the four primary types of animal tissue, a group of cells that are similar in structure, along with epithelial tissue, muscle tissue, and nervous tissue. It develops mostly from the mesenchyme, derived from the mesod ...
cells) in a dense collagen
matrix Matrix (: matrices or matrixes) or MATRIX may refer to: Science and mathematics * Matrix (mathematics), a rectangular array of numbers, symbols or expressions * Matrix (logic), part of a formula in prenex normal form * Matrix (biology), the m ...
(i.e. tissue background). Studies have suggested that these tumors are due to the expression of male sex hormones (i.e.
androgens An androgen (from Greek ''andr-'', the stem of the word meaning ) is any natural or synthetic steroid hormone that regulates the development and maintenance of male characteristics in vertebrates by binding to androgen receptors. This includes ...
and progesterones), genetic factors, molecular alterations (i.e. changes in the normal characteristics of cells that lead to abnormal cell growth), and/or
human papillomavirus infection Human papillomavirus infection (HPV infection) is caused by a DNA virus from the ''Papillomaviridae'' family. Many HPV infections cause no symptoms and 90% resolve spontaneously within two years. In some cases, an HPV infection persists and ...
.


Angiofibroma of soft tissue

Angiofibroma of soft tissue is also named angiofibroma, not otherwise specified, by the World Health Organization, 2020. The Organization also classified these lesions as in the category of benign fibroblastic and myofibroblastic tumors. These tumors more often afflict females, typically occur in adults (median age 49 years), have a median size of ~3.5 cm, and develop in a leg near to, and may invade, a large joint. Less uncommonly, they occur in the back, abdominal wall,
pelvic cavity The pelvic cavity is a body cavity that is bounded by the bones of the pelvis. Its oblique roof is the pelvic inlet (the superior opening of the pelvis). Its lower boundary is the pelvic floor. The pelvic cavity primarily contains the reproduc ...
, or breast. Angiofibroma of soft tissue tumors consist of uniform, bland, spindle-shaped cells and a prominent vascular network consisting of small thin-walled branching blood vessels in a variably collagenous tissue background. Its tumor cells contain an '' AHRR- NCOA2'' fusion gene in 60% to 80% of cases and a '' GTF2I- NCOA2'' or '' GAB1''-'' ABL1'' fusion gene in rare cases.


Cellular angiofibroma

Cellular angiofibroma is usually a small, slow-growing tumor arising in the
vulva In mammals, the vulva (: vulvas or vulvae) comprises mostly external, visible structures of the female sex organ, genitalia leading into the interior of the female reproductive tract. For humans, it includes the mons pubis, labia majora, lab ...
- vaginal areas of adult woman and the inguinal- scrotal areas of adult men although some of these tumors, especially in men, can grow up to 25 cm. Affected men are usually older (7th decade) than women (5th decade). Less commonly. cellular angiofibromas have occurred in various other superficial soft tissue areas throughout the body. These tumors are edematous (i.e. abnormally swollen with fluid), highly vascular, spindle-shaped cell lesions with a variable amount of fibrous stroma. In 2020, the World Health Organization classified cellular angiofibroma tumors in the category of benign fibroblastic/myofibroblastic tumors. The tumor cells in these lesions contain chromosome and gene abnormalities including a loss of one of the two '' RB1'' genes. It has been suggested that the loss of this gene contributes to the development of cellular angiofibroma tumors.


Acral angiofibromas

Acral angiofibromas are also termed superficial acral fibromyxomas, digital fibromyxomas, acquired digital fibrokeratomas, acquired periungual fibrokeratomas, garlic clove fibromas, digital fibromas, and cellular digital fibromas. At one time, periungual angiofibromas were regarded as a type of acral angiofibroma (see above description). Acral refers to distal sites of the ears, nose, hands, fingers, feet, and toes. Acral angifibromeae occur primarily in areas close to the nails of fingers and toes (~80% of cases) or, less commonly, palms of the hands or soles of the feet. The tissues of this tumor consists of bland spindle-shaped and star-shaped cells within a
collagen fiber Type I collagen is the most abundant collagen of the human body, consisting of around 90% of the body's total collagen in vertebrates. Due to this, it is also the most abundant protein type found in all vertebrates. Type I forms large, eosinop ...
-rich stroma containing prominent blood vessels and
mast cells A mast cell (also known as a mastocyte or a labrocyte) is a resident cell of connective tissue that contains many granules rich in histamine and heparin. Specifically, it is a type of granulocyte derived from the myeloid stem cell that is a ...
. Hirsuties papillaris coronae glandis enlarged.jpg, Glans penis with Hirsuties papillaris penis. Papules are common on uncircumcised penises. Koenen.gif, Koenen tumor in patient with tuberous sclerosis complex. Irritation Fibroma.png, Photo of irritation fibroma on the labial mucosa. Nasopharyngeal angiofibroma - high mag.jpg, High magnification micrograph of a nasopharyngeal angiofibroma. Adenoma sebaceum 01.jpg, Adenoma sebaceum. Multiple wart-like, waxy lumps consisting of angiomatous and fibrous tissue associated with tuberous sclerosis.


See also

*
List of cutaneous conditions Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function o ...
*
Tuberous sclerosis Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combinatio ...
* Multiple endocrine neoplasia type 1 * Birt-Hogg-Dube syndrome


References


External links

{{Vascular tumors Cutaneous conditions Dermal and subcutaneous growths Connective and soft tissue neoplasms Benign neoplasms