Hypertrichosis & Hirsutism

Also Acquired Hypertrichosis Lanuginosa

& Congenital Hypertrichosis & Congenital Hypertrichosis Lanuginosa (CHL)
Ambras Syndrome

This article is for interest only, it is not published as an aid to self diagnosis.

If you are suffering, seek specialist advice.


The medical term for male type hair growth patterns in females. It presents as androgen-induced terminal hair growth. It may have a congenital or exogenous origin.

e.g. Female with a full beard (Hirsutism) .

• Increased production of androgens (hyper-androgenism) and androstenedione or the increased sensitivity of the skin to them.

• Advancing years.

• Drugs: danazol, androgenic oral contraceptives.

• Polycystic ovarian syndrome (onset in the teens or early 20s – gradual worsening).

• Hyperthecosis (Hyperplasia of the theca (sheath) cells of the vesicular ovarian follicles)

• Late onset congenital adrenal hyperplasia – (due to hormone metabolism changes at puberty)

• Pregnancy related – e.g. ovarian changes or hyperprolactinemia (increased prolactin in the blood associated with lactation).

• Tumors that stimulate the ovarian stroma, adrenal tumors, Cushing’s disease.

Consultation and examination with the appropriate medical specialist is essential.


The medical term for excessive body hairgrowth (vellus, terminal, or lanugo type) at appropriate sites compared to other persons of the same sex, age, and ethnicity. Not androgen-related.

Men usually posses chest hair (excessive growth is therefore hypertrichosis).
Females have fine arm hairs (excessive growth is therefore hypertrichosis).
Females with a fine chin and upper lip hairs (classification – hypertrichosis)

• Genetic syndromes.
• Drugs reaction: secondary reaction to exogenous medications viz: acetazolamide, cyclosporine, corticosteroids, heavy metals, hexachlorobenzene, interferon, minoxidil, penicillamine, phenytoin, streptomycin.

                     Treatment for Hirsutism / Hypertrichosis

Bleach the hair. Theoretically a safe treatment but may cause skin reaction/irritation.

Depilate with creams which dissolve hair at the skin level. Stubble is avoided, but skin irritation may result. Creams based on thiols may have a pungent odour. We recommend an allergy test before use on face.

Electrolysis /Diathermy will destroy individual dermal papillae via a platinum needle inserted into the hair follicle and the passage of an electric current. This treatment may be painful, expensive, not always reliable and progress is slow. Not all practitioners are qualified. Skin may suffer minute scarring.

Laser epilation is the latest and perhaps best local treatment option. Treatment is very expensive and should be carried out under medical supervision. Side effects: may include redness, skin tone changes, possible scarring. Read more about laser therapy

Shaving is the safest method. Requires daily attention. Produces stubble and may irritate sensitive skin.

Weight Loss. Obese persons may find this type of hair growth is reduced with weight reduction.

Medicines Anti-androgens.

Acquired Hypertrichosis Lanuginosa:

Foetal hair follicles produce fine soft Lanugo hair. This embryonic hair is lost before birth. During normal life thereafter the human skin produces hair of various types through endocrine influences.

People with ‘acquired hypertrichosis lanuginosa’ will have lost their lanugo hair prior to birth. Similar hair growth acquired later in life should be more accurately described as Vellus hair. Excess Vellus hair growth frequently affects the face but may inculcate other regions.

The condition may a symptom of other illness i.e. malignancy.
Though the causal mechanism is not fully understood some dermatologists / endocrinologists suggest that it is associated with a disruption of hormone concentrations. Others suggest the disorder may be producing its own hair growth stimulator.

A child or adult suspected of having ‘Acquired Hypertrichosis Lanuginosa’, should seek advice from a specialist dermatologist / endocrinologist.

Tests may trace the cause.

Congenital Hypertrichosis & Congenital Hypertrichosis Lanuginosa (CHL)

Syn. Congenital Hypertrichosis Universalis, Hypertrichosis Universalis, Hypertrichosis Lanuginosa,
and Hypertrichosis Lanuginosa Universalis.

Congenital hypertrichosis is a general term for any excessive hair growth visible on a child at birth. This may involve the entire body having a covering of fine long hair, or be restricted to specific areas. This very rare X-linked dominant condition has been responsible for the descriptions ‘dog faced’ and ‘werewolf’. Figuera et.al. (1995) have been mapping the gene responsible which is on the long arm of the X chromosome between Xq24-Xq27.

A secondary symptom of various syndromes associated with a genetic inheritance.

One notable Case History:
In 1648, Dr Ulysses Aldrovandus documented several members of the family of Petrus Gonsalvus a native of Tenerife who had excessive body hair (Hypertrichosis universalis) from birth. Gonsalvus married in the Netherlands, and fathered several children including two daughters a son and a grandchild with Congenital Hypertrichosis. The family was a popular object of medical research. Drs Felix Plater & Aldrovandus described them. The family was dubbed ‘The Family of Ambras’ after a castle near Innsbruck in which their portraits are still exhibited. Details of their lives were recorded in the 1582/83 sketchbook of Georg Hoefnagel in the Österreichische Nationalbibliothek (Austrian National Library) in Vienna.

Other cases documented since include:
In 1993, Dr Baumeister described nine of his patients with a form of hypertrichosis with a defining clinical presentation. To this he gave the name ‘Ambras Syndrome’.
In one of the patients, a specific genetic abnormality was found on Chromosome 8
In 1998, Dr Balducci described a case of CHL (congenital hypertrichosis lanuginosa) involving a different genetic defect on chromosome 8

An X-linked syndrome of hypertrichosis associated with gingival hyperplasia has been described.

The following practitioners have also reported possible variants of this disorder viz. (Beighton, 1970; Brandt, 1897; Broster, 1950; Cantu, 1982; Demikova, 1986; Felgenhauer, 1969; Freire-Maia, 1976; Gardner, 1964; Jalili, 1989; Janssen, 1945; Joest, 1984; Judge, 1991; Kint, 1985; Li, 1986; McKusick, 1992; Nowakowski, 1977; Partridge, 1987; Suskind, 1971).

Fewer than 40 cases of CHL and Ambras Syndrome have been documented worldwide (Danforth, 1925; Felgenhauer, 1969; Rook, 1986; Baumeister, 1993). There is no associated mortality.

© 2001 B Stevens FTTS   Contact the author