Angiofibroma

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Angiofibroma
Angiofibroma.jpg
Angiofibroma, Hematoxylin and eosin stain, magnification ×10.
Specialty Oncology   OOjs UI icon edit-ltr-progressive.svg
Symptoms Itchiness and sometimes bleeding. [1]
Complications Facial disfigurement and stigmatization. [1]
CausesLocal overgrowth of collagen, fibroblasts, and blood vessels. [1]
Risk factors Tuberous sclerosis, Birt-Hogg-Dubé syndrome, and Multiple endocrine neoplasia type 1. [1]
Diagnostic method Skin biopsy. [1]
Differential diagnosis Intradermal melanocytic naevus, Acne, Basal cell carcinoma, Viral warts, Subungual exostosis, Molluscum contagiosum, and Anogenital warts. [1]
TreatmentExcision, Dermabrasion, Using lasers, electrical, and radiofrequency devices, Cryotherapy, Topical podophyllotoxin, Topical rapamycin, and Topical beta-blockers. [1]

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:

Contents

  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.

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 (i.e. the main fibrous component of connective tissue). [2] Angiofibromas have been divided into different types but commonly a specific type was given multiple and very different names in different studies. [2]

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: tuberous sclerosis, multiple endocrine neoplasia type 1, and Birt-Hogg-Dube syndrome. [3] 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 [4] ). They develop in up to 8% of the general adult population and occur as 1 to 3 [5] pink to red, [4] dome-shaped papules in the central areas of the face, nose, and/or lips. [6] 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 [5] in symmetrical, butterfly-shaped patterns over both cheeks and the nose. [7] 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) [8] and, uncommonly, in individuals with Birt-Hogg-Dube syndrome. [9]

Pearly penile papules

Pearly penile papules are also termed papillae coronae glandis and hirsutoid papillomas . The condition of having such papules or papillae is called hirsuties papillaris coronae glandis or papillomatosis coronae glandis or papillomatosis coronae penis . [10] 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. [11] (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. [12] It has not been formally termed an angiofibroma.)

Periungual angiofibromas

Periungual angiofibromas are also termed Koenen's tumors, periungual fibromas, and subungual fibromas. [13] In addition, these tumors were formerly regarded as a type of acral angiofibroma (see below description). [14] These lesions present as multiple nodules or tumors under multiple finger and/or toe nails of individuals with tuberous sclerosis [4] or in one case the Birt-Hogg-Dube syndrome. [15] Periungual angiofibromas have also been reported to occur in individuals that do not have these genetic diseases. [16] Periungual angiofibromas tumors can be highly mutilating finger/toe-nail lesions. [4]

Oral fibromas

Oral fibromas are also termed irritation fibromas, focal fibrous hyperplasia, and traumatic fibromas. [17] 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. [18] They may be irritating or asymptomatic and are the most common tumor-like lesions in the oral cavity. Oral fibromas are not neoplasms; they are hyperplastic (i.e. overgrowth) reactions of fibrous tissue to local trauma or chronic irritation. [19]

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 (i.e. upper part of the throat that lies behind the nose) and typically have attachments to the sphenopalatine foramen, 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. [20] Nasopharyngeal angiofibromas are highly vascularized tumors consisting of fibroblasts (i.e. connective tissue cells) in a dense collagen matrix (i.e. tissue background). Studies have suggested that these tumors are due to the expression of male sex hormones (i.e. androgens 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. [21]

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. [22] These tumors more often afflict females, [23] 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, 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. [24]

Cellular angiofibroma

Cellular angiofibroma is usually a small, slow-growing tumor arising in the vulva-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). [25] Less commonly. cellular angiofibromas have occurred in various other superficial soft tissue areas throughout the body. [26] These tumors are edematous (i.e. abnormally swollen with fluid), highly vascular, spindle-shaped cell lesions with a variable amount of fibrous stroma. [25] In 2020, the World Health Organization classified cellular angiofibroma tumors in the category of benign fibroblastic/myofibroblastic tumors. [22] 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. [27]

Acral angiofibromas

Acral angiofibromas are also termed superficial acral fibromyxomas, digital fibromyxomas, acquired digital fibrokeratomas, acquired periungual fibrokeratomas, garlic clove fibromas, [28] digital fibromas, and cellular digital fibromas. [14] At one time, periungual angiofibromas were regarded as a type of acral angiofibroma (see above description). [14] 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) [28] or, less commonly, palms of the hands or soles of the feet. [14] The tissues of this tumor consists of bland spindle-shaped and star-shaped cells within a collagen fiber-rich stroma containing prominent blood vessels and mast cells. [28]

See also

Related Research Articles

<span class="mw-page-title-main">Tuberous sclerosis</span> Genetic condition causing non-cancerous tumours

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 combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease.

<span class="mw-page-title-main">Skin condition</span> Any medical condition that affects the integumentary system

A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment.

<span class="mw-page-title-main">Fibroma</span> Medical condition

Fibromas are benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.

<span class="mw-page-title-main">Benign tumor</span> Mass of cells which cannot spread throughout the body

A benign tumor is a mass of cells (tumor) that does not invade neighboring tissue or metastasize. Compared to malignant (cancerous) tumors, benign tumors generally have a slower growth rate. Benign tumors have relatively well differentiated cells. They are often surrounded by an outer surface or stay contained within the epithelium. Common examples of benign tumors include moles and uterine fibroids.

<span class="mw-page-title-main">Papule</span> Small, circumscribed, solid elevation of skin with no visible fluid

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.

<span class="mw-page-title-main">Birt–Hogg–Dubé syndrome</span> Rare autosomal dominant cancer syndrome

Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human, adult onset, autosomal dominant genetic disorder caused by the FLCN gene. It 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%) and 24% of people with BHD eventually experience a collapsed lung. Kidney tumors, both cancerous and benign, occur in 14–34% of people with BHD; the associated kidney cancers are often rare hybrid tumors.

<span class="mw-page-title-main">Pearly penile papules</span> Small bumps on the head of human penis

Pearly penile papules are benign, small bumps or spots on the human penis. They vary in size from 1–4 mm, are pearly or flesh-colored, smooth and dome-topped or filiform, and appear in one or ,several rows around the corona, the ridge of the head of the penis and sometimes on the penile shaft. They are painless, non-cancerous and not harmful. The medical condition of having such papules is called hirsutoid papillomatosis or hirsuties papillaris coronae glandis.

<span class="mw-page-title-main">Pyogenic granuloma</span> Vascular tumor on both mucosa and skin

A pyogenic granuloma or lobular capillary hemangioma is a vascular tumor that occurs on both mucosa and skin, and appears as an overgrowth of tissue due to irritation, physical trauma, or hormonal factors. It is often found to involve the gums, skin, or nasal septum, and has also been found far from the head, such as in the thigh.

Infantile digital fibromatosis (IDF), also termed inclusion body fibromatosis, Reye tumor, or Reye's tumor, usually occurs as a single, small, asymptomatic, nodule in the dermis on a finger or toe of infants and young children. IMF is a rare disorder with approximately 200 cases reported in the medical literature as of 2021. The World Health Organization in 2020 classified these nodules as a specific benign tumor type in the category of fibroblastic and myofibroblastic tumors. IDF was first described by the Australian pathologist, Douglas Reye, in 1965.

Fibrous hamartoma of infancy (FHI) is a rare, typically painless, benign tumor that develops in the subcutaneous tissues of the axilla, arms, external genitalia, or, less commonly, various other areas. It is diagnosed in children who are usually less than 2 years old or, in up to 20% of cases, develops in utero and is diagnosed in an infant at birth.

<span class="mw-page-title-main">Fibrous papule of the nose</span> Medical condition

Fibrous papule of the nose is a harmless small bump on or near the nose. It is typically dome-shaped, skin-colored, white or reddish, smooth and firm. Less frequently it can occur elsewhere on the face. Sometimes there are a few. It may be shiny and remains unchanged for life. There may be a central hair.

<span class="mw-page-title-main">Koenen's tumor</span> Medical condition

Koenen's tumor (KT), also commonly termed periungual angiofibroma, is a subtype of the angiofibromas. Angiofibromas are benign papule, nodule, and/or tumor lesions that are separated into various subtypes based primarily on the characteristic locations of their lesions. KTs are angiofibromas that develop in and under the toenails and/or fingernails. KTs were once considered as the same as another subtype of the angiofibromas viz., acral angiofibromas. While the literature may still sometimes regard KTs as acral angiofibromas, acral angiofibromas are characteristically located in areas close to but not in the toenails and fingernails as well as in the soles of the feet and palms of the hands. KTs are here regarded as distinct from acral angiofibromas.

<span class="mw-page-title-main">Sebaceous adenoma</span> Medical condition

A sebaceous adenoma, a type of adenoma, a cutaneous condition characterized by a slow-growing tumor usually presenting as a pink, flesh-coloured, or yellow papule or nodule.

Epulis is any tumor like enlargement situated on the gingival or alveolar mucosa. The word literally means "(growth) on the gingiva", and describes only the location of the mass and has no further implications on the nature of the lesion. There are three types: fibromatous, ossifying and acanthomatous. The related term parulis refers to a mass of inflamed granulation tissue at the opening of a draining sinus on the alveolus over the root of an infected tooth. Another closely related term is gingival enlargement, which tends to be used where the enlargement is more generalized over the whole gingiva rather than a localized mass.

<span class="mw-page-title-main">Fibroma of tendon sheath</span> Medical condition

Fibroma of tendon sheath is a benign tumor that presents as a small subcutaneous nodule that slowly increases in size. The tumors often have a multinodular growth pattern, with individual nodules being composed of bland, slender, spindle-shaped cells (myofibroblasts) in a dense, fibrous matrix.” A common microscopic finding is the presence of elongated, slit-like blood vessels. The lesions nearly always arise in the distal portions of the extremities. They often occur on the fingers, hands, toes, or feet. Although they are benign, they may recur in up to 40% of cases.

<span class="mw-page-title-main">Mammary-type myofibroblastoma</span> Medical condition

Mammary-type myofibroblastoma (MFB), also named mammary and extramammary myofibroblastoma, was first termed myofibrolastoma of the breast, or, more simply, either mammary myofibroblastoma (MMFB) or just myofibroblastoma. The change in this terminology occurred because the initial 1987 study and many subsequent studies found this tumor only in breast tissue. However, a 2001 study followed by numerous reports found tumors with the microscopic histopathology and other key features of mammary MFB in a wide range of organs and tissues. Further complicating the issue, early studies on MFB classified it as one of various types of spindle cell tumors that, except for MFB, were ill-defined. These other tumors, which have often been named interchangeably in different reports, are: myelofibroblastoma, benign spindle cell tumor, fibroma, spindle cell lipoma, myogenic stromal tumor, and solitary stromal tumor. Finally, studies suggest that spindle cell lipoma and cellular angiofibroma are variants of MFB. Here, the latter two tumors are tentatively classified as MFB variants but otherwise MFB is described as it is more strictly defined in most recent publications. The World Health Organization in 2020 classified mammary type myofibroblastoma tumors and myofibroblastoma tumors as separate tumor forms within the category of fibroblastic and myofibroblastic tumors.

Fibroblastic and myofibroblastic tumors (FMTs) develop from the mesenchymal stem cells which differentiate into fibroblasts and/or the myocytes/myoblasts that differentiate into muscle cells. FMTs are a heterogeneous group of soft tissue neoplasms. The World Health Organization (2020) defined tumors as being FMTs based on their morphology and, more importantly, newly discovered abnormalities in the expression levels of key gene products made by these tumors' neoplastic cells. Histopathologically, FMTs consist of neoplastic connective tissue cells which have differented into cells that have microscopic appearances resembling fibroblasts and/or myofibroblasts. The fibroblastic cells are characterized as spindle-shaped cells with inconspicuous nucleoli that express vimentin, an intracellular protein typically found in mesenchymal cells, and CD34, a cell surface membrane glycoprotein. Myofibroblastic cells are plumper with more abundant cytoplasm and more prominent nucleoli; they express smooth muscle marker proteins such as smooth muscle actins, desmin, and caldesmon. The World Health Organization further classified FMTs into four tumor forms based on their varying levels of aggressiveness: benign, intermediate, intermediate, and malignant.

Gardner fibroma (GF) is a benign fibroblastic tumor. GF tumors typically develop in the dermis and adjacent subcutaneous tissue lying just below the dermis. These tumors typically occur on the back, abdomen, and other superficial sites but in rare cases have been diagnoses in internal sites such as the retroperitoneum and around the large blood vessels in the upper thoracic cavity. The World Health Organization, 2020, classified Gardner fibroma as a benign tumor in the category of fibroblastic and myofibroblastic tumors.

CYLD cutaneous syndrome (CCS) is the recently designated term for three rare inherited cutaneous adnexal tumor syndromes: multiple familial trichoepithelioma (MFT1), Brooke–Spiegler syndrome (BSS), and familial cylindromatosis (FC). Cutaneous adnexal tumors are a large group of skin tumors that consist of tissues that have differentiated towards one of the four primary adnexal structures found in normal skin: hair follicles, sebaceous sweat glands, apocrine sweat glands, and eccrine sweat glands. CCS tumors are hair follicle tumors.

References

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