Hypertrichosis Classification and external resources
Stephan Bibrowski, also known as Lionel the Lion-Faced Man, had congenital terminal hypertrichosis.
ICD-10 L68, Q84.2 ICD-9 704.1, 757.4 OMIM 135400 DiseasesDB 20886 MedlinePlus 003148 eMedicine article/1072031 MeSH D006983
Hypertrichosis (also called Ambras Syndrome) is an abnormal amount of hair growth on the body; extensive cases of hypertrichosis have informally been called werewolf syndrome. There are two distinct types of hypertrichosis: generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, which is restricted to a certain area. Hypertrichosis can be either congenital (present at birth) or acquired later in life. The excess growth of hair occurs in areas of the skin with the exception of androgen-dependent hair of the pubic area, face, and axillary regions.
Several circus sideshow performers in the 19th and early 20th centuries, such as Julia Pastrana, had hypertrichosis. Many of them worked as freaks and were promoted as having distinct human and animal traits.
- 1 History
- 2 Classification
- 3 Signs and symptoms
- 4 Differential diagnosis
- 5 Pathophysiology
- 6 Diagnosis
- 7 Management
- 8 Epidemiology
- 9 Society and culture
- 10 See also
- 11 References
- 12 External links
The first recorded case of hypertrichosis was Petrus Gonzales of the Canary Islands. This was documented by Altrovandus in 1648. He noted in Gonzales' family that two daughters, a son, and a grandchild all had hypertrichosis. Altrovandus dubbed them the Ambras family, after the Ambras castle near Innsbruck, where portraits of the family were found. During the next 300 years approximately 50 cases were observed. The scientist Rudolf Virchow described a form of hypertrichosis accompanied by gingival hyperplasia in 1873.
There are two methods of classification for hypertrichosis. One divides them into either generalized versus localized hypertrichosis, while the other divides them into congenital versus acquired.
Congenital forms of hypertrichosis are caused by genetic mutations. Congenital hypertrichosis forms are extremely rare, unlike acquired forms. Congenital hypertrichosis is always present at birth.
- Hypertrichosis lanuginosa
Congenital hypertrichosis lanuginosa is noticeable at birth with the infant completely covered in thin lanugo hair. In normal circumstances, lanugo hair is shed before birth and replaced by vellus hair; however, in a person with congenital hypertrichosis lanuginosa, the lanugo hair remains after birth. The palms of the hands, soles of the feet, and mucous membranes are not affected. As the person ages, the lanugo hair may thin leaving only limited areas of hypertrichosis.
- Generalized hypertrichosis
Congenital generalized hypertrichosis causes males to exhibit excessive facial and upper body hair, whereas women exhibit less severe asymmetrical hair distribution. The palms, soles, and mucous membranes are not affected.
- Terminal hypertrichosis
Congenital terminal hypertrichosis is characterized by the presence of fully pigmented terminal hair that covers the entire body. This condition is usually accompanied by gingival hyperplasia. This form is most responsible for the term "Werewolf Syndrome" because of the thick dark hair that appears. People with this condition are sometimes performers at circuses because of their unusual appearance.
- Circumscribed hypertrichosis
Congenital circumscribed hypertrichosis is associated with the presence of thick vellus hair on the upper extremities. Circumscribed signifies that this type of hypertrichosis is restricted to certain parts of the body, in this case, the extrasensory surfaces of the upper extremities. Hairy Elbow Syndrome, a type of congenital circumscribed hypertrichosis, shows excessive growth on and around the elbows. This type of hypertrichosis is present at birth, becoming more prominent during aging, only to regress at puberty.
- Localized hypertrichosis
Congenital localized hypertrichosis is a localized increase in hair density and length.
- Nevoid hypertrichosis
Acquired hypertrichosis appears after birth. There are multiple causes, including the side effects of drugs, associations with cancer, and possible links with eating disorders. Acquired forms of hypertrichosis can usually be reduced with various treatments.
- Hypertrichosis lanuginosa
Acquired hypertrichosis lanuginosa is characterized by rapid growth of lanugo hair, particularly on the face. Hair also appears on the trunk and armpits, while palms and soles are unaffected. The excess hair is commonly referred to as malignant down. This hair is very fine and unpigmented.
- Generalized hypertrichosis
Acquired generalized hypertrichosis commonly affects the cheeks, upper lip, and chin. This form also affects the forearms and legs; however, it is less common in these areas. Another deformity associated with acquired generalized hypertrichosis is multiple hairs occupying the same follicle. It may also include abnormal hair growth patterns as what happens to the eyelashes in a condition known as trichiasis. Oral minoxidil treatments for hypertension are known to cause this condition. Topical minoxidil used for alopecia causes hair growth in the areas it is applied to, however this hair disappears shortly after discontinuing the use of topical minoxidil.
- Patterned hypertrichosis
- Localized hypertrichosis
Acquired localized hypertrichosis is an increase in hair density and length often secondary to irritation or trauma. This form is restricted to certain areas of the body.
Hypertrichosis is often mistakenly classified as hirsutism. Hirsutism is a type of hypertrichosis exclusive to women and children, resulting from an excess of androgen sensitive hair growth. Patients with hirsutism exhibit patterns of adult male hair growth. Chest and back hair are often present on women with hirsutism.
Hirsutism is both congenital and acquired. It is linked to excessive male hormones in women, thus symptoms may include acne, deepening of the voice, irregular menstrual periods, and the formation of a more masculine body shape. An increase in androgen (male hormone) levels are the primary cause of most hirsutism cases. Hirsutism caused by increased levels of androgens can be treated with medications that reduce androgen levels. Some birth control pills and spironolactone reduce androgen levels.
Signs and symptoms
The primary characteristic of all forms of hypertrichosis is excess hair. Hair in hypertrichosis is usually longer than expected and may consist of any hair type (lanugo, vellus, or terminal). Patterned forms of hypertrichosis cause hair growth in patterns. Generalized forms of hypertrichosis result in hair growth over the entire body. Circumscribed and localized forms lead to hair growth restricted to a certain area.
- Hypertrichosis lanuginosa
Congenital hypertrichosis lanuginosa may be caused by a mutation on the 8q chromosome; however, it could also be possibly the result of a spontaneous genetic mutation rather than inheritance. This form is a dominant autosomal (not located on the sex chromosomes) cutaneous disorder, that affects the skin.
- Generalized hypertrichosis
Congenital generalized hypertrichosis has a dominant pattern of inheritance and has been linked to chromosome x24-q27.1. A female carrying the hypertrichosis gene has a 50% chance of passing it to her offspring. A male carrier will pass this form of hypertrichosis to his daughters, but never the sons.
- Generalized hypertrichosis terminalis
Congenital generalized hypertrichosis terminalis is thought to be caused by genetic changes on chromosome 17 resulting in the addition or removal of millions of nucleotides. The gene MAP2K6 may be a factor contributing to this condition. This condition may also be due to the change in the chromosome affecting the transcription of genes.
- Acquired hypertrichosis lanuginosa
Acquired hypertrichosis lanuginosa is commonly present with cancer. This condition is also linked to metabolic disorders, such as anorexia, hormone imbalances, such as hyperthyroidism, or as a side effect of certain drugs.
- Acquired generalized hypertrichosis
Acquired generalized hypertrichosis may be caused by cancer. The resulting hair growth is known as malignant down. The mechanism behind cancer induced hypertrichosis is unknown. Oral and topical minoxidil treatments are also known to cause acquired generalized hypertrichosis.
- Acquired localized hypertrichosis
- Unknown causes
The exact genetic mutation that causes congenital circumscribed, localized, and nevoid hypertrichosis is unknown.
A number of mechanisms can lead to hypertrichosis. One cause involves areas of the skin that are transforming from the small vellus type to the larger terminal type. This change normally occurs during adolescence, when vellus hair follicles in the underarms and groin grow into terminal hair follicles. Hypertrichosis involves this same type of switching, but in areas that do not normally produce terminal hair. The mechanisms for this switch are poorly understood.
Another mechanism involves a change in the hair cycle. There are three stages of the hair cycle: the anagen phase (hair growth), the catagen phase (hair follicle death), and the telogen phase (hair shedding). If the anagen phase increases beyond what is normal; that region of the body will experience excessive hair growth.
Hypertrichosis is diagnosed clinically via the occurrence of hair in excess of what is expected for age, sex, and ethnicity in areas that are not androgen-sensitive. The excess can be in the form of excessive length or density and may consist of any hair type (lanugo, vellus, or terminal).
There is no cure for any congenital forms of hypertrichosis. The treatment for acquired hypertrichosis is based on attempting to address the underlying cause. Acquired forms of hypertrichosis have a variety of sources, and are usually treated by removing the factor causing hypertrichosis, e.g. a medication with undesired side-effects. All hypertrichosis, congenital or acquired, can be reduced through hair removal. Hair removal treatments are categorized into two principal subdivisions: temporary removal and permanent removal. Treatment may have adverse effects by causing scarring, dermatitis, or hypersensitivity.
Temporary hair removal may last from several hours to several weeks, depending on the method used. These procedures are purely cosmetic. Depilation methods, such as trimming, shaving, and depilatories, remove hair to the level of the skin and produce results that last several hours to several days. Epilation methods, such as plucking, electrology, waxing, sugaring, threading, remove the entire hair from the root, the results lasting several days to several weeks.
Permanent hair removal uses chemicals, energy of various types, or a combination to target the areas that regulate hair growth. Laser hair removal is the most effective method of long-term hair removal. Electrolysis (electrology) is also used for permanent hair removal.
Medication to reduce production of hair is currently under testing. One medicinal option suppresses testosterone by increasing the sex hormone-binding globulin. Another controls the overproduction of hair through the regulation of a luteinizing hormone.
Congenital forms of hypertrichosis are rare. Only 50 cases of congenital hypertrichosis lanuginosa have been recorded since the Middle Ages, and fewer than 100 cases of congenital generalized hypertrichosis have been documented in scientific publications and by the media. Congenital generalized hypertrichosis is isolated to one family in Mexico. Acquired hypertrichosis and hirsutism are more common. For example, hirsutism occurs in about 10% of women between ages 18 and 45.
Society and culture
People with hypertrichosis often found jobs as circus performers, making the best of their unusual appearance. Fedor Jeftichew ("Jo-Jo the Dog-Faced Man"), Stephan Bibrowski ("Lionel the Lion-Faced Man"), Jesus "Chuy" Aceves ("Wolfman"), and Annie Jones ("the bearded woman"), all had hypertrichosis. Extensive hypertrichosis carries an emotional burden and can cause cosmetic embarrassment; however, some people attempt no treatments because they say it defines who they are.
Julia Pastrana (1834–1860) traveled throughout the United States in a freak show as the bearded lady, capturing the attention of many artists. She is portrayed as having dark extensive hairs distributed equally throughout the surface of her body, even on the palms of her hands. Originally, she was believed to have congenital hypertrichosis lanuginosa; however, the generalized form of the syndrome coupled with her gingival hyperlasia indicated that her condition was congenital terminal hypertrichosis. This was not confirmed until after her death, when it became clear that her X-linked syndrome resulted in terminal hairs.
In 2011, Supatra Sasuphan (Thai: สุพัตรา สะสุพันธ์; born August 5, 2000), an 11-year old girl from Thailand with hypertrichosis was named the world's hairiest girl by the Guinness Book of World Records.
The hairy family of Burma
One record in history concerning congenital hypertrichosis lanuginosa is the hairy family of Burma, a four-generational pedigree of the disease. In 1826, John Crawford was leading a mission for the Governor-General of India through Burma. He tells of meeting a hairy man, Shwe-Maong. Shwe-Maong lived in the court of King Ava and acted as an entertainer. Shwe-Maong had four children: three normal children, and one child with congenital hypertrichosis, named Maphoon. On a second mission to Ava, Maphoon was described as a thirty year old woman with two sons, one of which had hypertrichosis. The affected son was named Maong-Phoset. He had an affected daughter named Mah-Me. Whereas all affected members of the family had dental problems, the unaffected members had perfect teeth.
- Fur: An Imaginary Portrait of Diane Arbus (film), where a character has hypertrichosis.
- Skin disease
- Skin lesion
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Disorders of skin appendages (L60–L75, 703–706) Nailbehavior: Onychotillomania · Onychophagiaother: Ingrown nail · Anonychiaungrouped: Paronychia (Acute paronychia, Chronic paronychia ) · Chevron nail · Congenital onychodysplasia of the index fingers · Green nails · Half and half nails · Hangnail · Hapalonychia · Hook nail · Lichen planus of the nails · Longitudinal erythronychia · Malalignment of the nail plate · Median nail dystrophy · Mees' lines · Melanonychia · Muehrcke's lines · Nail–patella syndrome · Onychoatrophy · Onychocryptosis · Onycholysis · Onychomadesis · Onychomatricoma · Onychomycosis · Onychophosis · Onychoptosis defluvium · Onychorrhexis · Onychoschizia · Platonychia · Pincer nails · Plummer's nail · Psoriatic nails · Pterygium inversum unguis · Pterygium unguis · Purpura of the nail bed · Racquet nail · Red lunulae · Shell nail syndrome · Splinter hemorrhage · Spotted lunulae · Staining of the nail plate · Stippled nails · Subungual hematoma · Terry's nails · Twenty-nail dystrophy Hairnoncicatricial alopecia: Alopecia/Alopecia areata (Alopecia totalis, Alopecia universalis, Ophiasis)
Androgenic alopecia (male-pattern baldness) · Hypotrichosis · Telogen effluvium · Traction alopecia · Lichen planopilaris · Trichorrhexis nodosa · Alopecia neoplastica · Anagen effluvium · Alopecia mucinosacicatricial alopecia: Pseudopelade of Brocq · Central centrifugal cicatricial alopecia · Pressure alopecia · Traumatic alopecia · Tumor alopecia · Hot comb alopecia · Perifolliculitis capitis abscedens et suffodiens · Graham-Little syndrome · Folliculitis decalvansungrouped: Triangular alopecia · Frontal fibrosing alopecia · Marie Unna hereditary hypotrichosisHypertrichosisHirsutism · Acquired generalized hypertrichosis · Generalized congenital hypertrichosis · Localized acquired hypertrichosis · Localized congenital hypertrichosis · Patterned acquired hypertrichosis · Prepubertal hypertrichosis · X-linked hypertrichosisAcneAcne vulgaris · Acne conglobata · Acne miliaris necrotica · Tropical acne · Infantile acne/Neonatal acne · Excoriated acne · Acne fulminans · Acne medicamentosa (e.g., steroid acne) · Halogen acne (Iododerma, Bromoderma, Chloracne) · Oil acne · Tar acne · Acne cosmetica · Occupational acne · Acne aestivalis · Acne keloidalis nuchae · Acne mechanica · Acne with facial edema · Pomade acne · Acne necrotica · Blackhead · Lupus miliaris disseminatus facieiPerioral dermatitis (Granulomatous perioral dermatitis) · Phymatous rosacea (Rhinophyma, Blepharophyma, Gnathophyma, Metophyma, Otophyma) · Papulopustular rosacea · Lupoid rosacea · Erythrotelangiectatic rosacea · Glandular rosacea · Gram-negative rosacea · Steroid rosacea · Ocular rosacea · Persistent edema of rosacea · Rosacea conglobata · variants (Periorificial dermatitis, Pyoderma faciale)UngroupedGranulomatous facial dermatitis · Idiopathic facial aseptic granuloma · Periorbital dermatitis · SAPHO syndromeFollicular cystsUngroupedAcrokeratosis paraneoplastica of Bazex · Acroosteolysis · Bubble hair deformity · Disseminate and recurrent infundibulofolliculitis · Erosive pustular dermatitis of the scalp · Erythromelanosis follicularis faciei et colli · Hair casts · Hair follicle nevus · Intermittent hair–follicle dystrophy · Keratosis pilaris atropicans · Kinking hair · Koenen's tumor · Lichen planopilaris · Lichen spinulosus · Loose anagen syndrome · Menkes kinky hair syndrome · Monilethrix · Parakeratosis pustulosa · Pili (Pili annulati · Pili bifurcati · Pili multigemini · Pili pseudoannulati · Pili torti) · Pityriasis amiantacea · Plica neuropathica · Poliosis · Rubinstein–Taybi syndrome · Setleis syndrome · Traumatic anserine folliculosis · Trichomegaly · Trichomycosis axillaris · Trichorrhexis (Trichorrhexis invaginata · Trichorrhexis nodosa) · Trichostasis spinulosa · Uncombable hair syndrome · Wooly hair · Wooly hair nevus
Sweat glands Congenital malformations and deformations of skin appendages (Q84, 757.4–757.5) Nail disease Hair disease Human hair Body type Facial hair Other areas Hair loss Conditions Related
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