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Dermatology > DISEASES OF THE ADNEXA
Congenital Hypertrichosis Lanuginosa
Article Last Updated: Nov 10, 2006
AUTHOR AND EDITOR INFORMATION
Section 1 of 11  
Author: Abby S Van Voorhees, MD, Assistant Professor, Director of Psoriasis Services and Phototherapy Units, Department of Dermatology, University of Pennsylvania School of Medicine, Hospital of the University of Pennsylvania
Abby S Van Voorhees is a member of the following medical societies: American Academy of Dermatology, American Medical Association, National Psoriasis Foundation, Phi Beta Kappa, Sigma Xi, and Women's Dermatologic Society
Coauthor(s):
Analisa Halpern, MD, Staff Physician, Division of Dermatology, Cooper University Hospital, UMDNJ-Robert Wood Johnson Medical Center
Editors: Leonard Sperling, MD, Chair, Professor, Department of Dermatology, Uniformed Services University of the Health Sciences; Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center; Jeffrey P Callen, MD, Professor of Medicine, Chief, Division of Dermatology, University of Louisville School of Medicine; Glen H Crawford, MD, Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital; William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
Author and Editor Disclosure
Synonyms and related keywords:
CHL, congenital hypertrichosis universalis, hypertrichosis universalis, hypertrichosis lanuginosa universalis, hypertrichosis disorders, hypertrichosis syndromes, Ambras syndrome, persistent hypertrichosis universalis, hirsutism, dog-men, hair-men, human Skye terriers, ape-men, werewolves, Homo silvestris, hypertrichosis of the dog-men, lanugo hair
Background
For hundreds of years, societies have maintained a certain fascination with the bizarre and the unknown. In the past, persons with congenital disorders that cause excessive body-hair growth have been so dramatized and romanticized that individuals with rare hypertrichosis syndromes became crowd-drawing money-making phenomena in many 19th century sideshow acts. These individuals have been referred to as dog-men, hair-men, human Skye terriers, ape-men, werewolves, and Homo sylvestris (Brandt, 1897; Felgenhauer, 1969). Since the Middle Ages, approximately 50 individuals with congenital hypertrichosis have been described, and, according to the most recent estimates, approximately 34 cases are documented adequately and definitively in the literature (Baumeister, 1993).
Disorders of hypertrichosis are distinguished by the distribution of hair, as well as by the temporal pattern of growth, the possible associated congenital anomalies, and the possible inheritance pattern.
Congenital hypertrichosis lanuginosa (CHL) has been referred to variably as congenital hypertrichosis universalis, hypertrichosis universalis, hypertrichosis lanuginosa, and hypertrichosis lanuginosa universalis. The lack of definitive terminology can be confusing and may make the distinction of the related but unique hypertrichosis syndromes difficult (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). Several solitary case reports describing hypertrichosis resembling CHL in association with other physical findings may, in fact, represent variants in a spectrum of the disorder.
An X-linked syndrome of hypertrichosis associated with gingival hyperplasia has been described. The abnormally excessive body hair that these patients develop is of the terminal type; therefore, it is not discussed here. In addition, the localized hypertrichoses, including primary hypertrichosis cubiti (hypertrichosis of both elbows), primary cervical hypertrichosis, and primary faun tail deformity, are not addressed in this article (Vashi, 2001). These forms represent limited types of hypertrichosis that may be associated with underlying bone and neurologic abnormalities. Hence, they can be distinguished from CHL on the basis of their clinical presentations.
In 1648, Aldrovandus first documented a family with hypertrichosis. Petrus Gonzales, his 2 daughters, a son, and a grandchild were affected. Deemed the Family of Ambras after a castle near Innsbruck, their portraits are still exhibited there even today. Over the next 300 years, more than 50 similar appearing cases were described, and 34 patients with presumed congenital hypertrichosis were identified. In 1873, Virchow described an edentate form; in 1876, Bartles added the descriptor universalis; and, in 1890, Chiari called the syndrome hypertrichosis of the dog-men.
In 1993, Baumeister et al noted that 9 of these 34 patients with hypertrichosis had a distinctive clinical presentation. The term Ambras syndrome was coined, and subsequent genetic analyses in 2 patients have revealed an association with a paracentric inversion of chromosome 8q22.
Pathophysiology
Two types of excessive hair disorders exist and must be distinguished.
Hypertrichosis is non–androgen-related pattern of excessive hair growth that may involve vellus, terminal, or lanugo type hair. Hypertrichosis can accompany certain genetic syndromes, or it can be induced secondarily by exogenous medications, most notably phenytoin, minoxidil, cyclosporine, diazoxide, corticosteroids, phenytoin (Dilantin), streptomycin, hexachlorobenzene, penicillamine, heavy metals, sodium tetradecyl sulfate, acetazolamide, and interferon.
Hirsutism commonly occurs in women and presents as androgen-induced male-pattern hair growth of the terminal type. Hirsutism may have a congenital or exogenous origin. More common causes of hirsutism include polycystic ovary syndrome (PCOS), idiopathic hirsutism, hyperprolactinemia, hyperthecosis, and medications (eg, danazol, androgenic oral contraceptives). Less common causes of hirsutism include congenital adrenal hyperplasia, ovarian tumors, Sertoli-Leydig cell tumors, granulosa–thecal cell tumors, other tumors that stimulate the ovarian stroma, adrenal tumors, Cushing disease, tumors of the adrenal cortex, and severe insulin-resistance syndromes.
Frequency
United States
CHL and Ambras syndrome are extremely rare.
International
CHL and Ambras syndrome are extremely rare. Fewer than 40 cases are documented worldwide (Danforth, 1925; Felgenhauer, 1969; Rook, 1986; Baumeister, 1993). The incidence of CHL is unknown; however, reported incidence ranges from 1 in a billion to 1 in 10 billion (von Luschan, 1907; Beighton, 1970; Partridge, 1987, Torbus, 2002).
There is no geographic predilection for CHL or Ambras syndrome.
Mortality/Morbidity
- CHL is not associated with an increased mortality rate.
- No documented long-term medical or physical morbidities are associated with CHL.
- Psychological sequelae may occur because of the presence of excessive hair growth and the maintenance involved with removing the unwanted hair.
Race
No racial predilection is recognized.
Sex
No sex predilection is known.
Age
In both CHL and Ambras syndrome, excessive hair is apparent at birth.
- Patients with CHL have growth of the lanugo hair, which increases in length and extent of involvement from birth to approximately age 2 years (range, 1-8 y). As a result, the density, length, and extent of involvement may decrease; the rate of hair growth also slows. Many individuals with CHL lose most, if not all, of their lanugo hair over time, and eventually, only limited areas of hypertrichosis may be present. Occasionally, the lanugo hair may be totally lost by the time the patient becomes an adult. A variant in which patients do not lose their lanugo hair over time is called congenital hypertrichosis universalis or persistent hypertrichosis universalis (Baumeister, 1995).
- Individuals with Ambras syndrome are classically described as having hypertrichosis at birth; however, the quantity of the excessive hair may be limited at that time. Unlike CHL, Ambras syndrome may show increased hair growth in both distribution and density as the patient ages, and the hair does not spontaneously involute.
History
The presenting complaint in CHL is an excess of body hair.
- Patients with CHL are otherwise asymptomatic.
- Patients with Ambras syndrome may complain of dysmorphic features of the face. These features do not impair function.
- A family history of excessive body hair may exist.
- No abnormalities in psychomotor, intellectual, or psychological development are known to occur.
Physical
Both CHL and Ambras syndrome share the characteristic of abnormally excessive hair growth with a consistent pattern of areas that are spared. In both disorders, hair is found only in areas where it is usually present. The palms, soles, mucous membranes, dorsal terminal phalanges, labia minora, prepuce, and glans penis are spared (Suskind, 1971).
- Congenital hypertrichosis lanuginosa
- In CHL, most of the body is covered with fine, blond or nonpigmented hair at birth.
- The length of the hair and its distribution may continue to increase until the individual is approximately 2 years. By adulthood, patients typically lose some or all of their excessive lanugo hair.
- No abnormalities of other organ systems are associated with CHL, although solitary case reports note abnormalities such as delayed tooth eruption, diffuse hamartoma of the arrector muscles, supernumerary teeth, glaucoma, aortic and cardiac valve abnormalities, and macromastia (Franklin, 1998; Larregue 1991; Partridge, 1987; Judge, 1991; Li, 1986).
- Ambras syndrome
- The entire body is covered with fine long hair, which spares only the palms, soles, and genitalia. The hypertrichosis characteristically involves the shoulders, face, nose, and ears.
- The forehead, eyelids, nose, cheeks, and preauricular regions are uniformly covered with hair, which can reach a length of several decimeters. The hair is longest over the spine. Most patients have hair in a characteristic shawl distribution on their back.
- The hair of the external auditory canal is typically long and thick, and it may hinder inspection of the auditory meatus.
- Abnormalities of the teeth may be present. Adontia may occur, with an absence of the upper molars and the premolar teeth and a lag in the development of the first and second dentition.
- Features associated with facial dysmorphism include the following:
- Triangular, coarse face
- Large intercanthal distance
- Broad palpebral fissures
- Long, prominent back of the nose and a round nose tip
- Large interalar distance
- Anteverted nares
- Short integumental lower lip
- Flat sulcus mentolabialis
- Other findings noted in solitary case reports include the following:
- Bushy eyebrows with hair darker and coarser than that of the rest of the face, shoulders, body, and extremities
- Hair on the forearms and legs, in excess of and darker than the rest of the hair on the extremity
- Six accessory nipples
Causes
- The pathogenesis of CHL is unknown.
- CHL is believed to be inherited in an autosomal dominant manner; most cases involve a familial component. Variable expressivity of inherited characteristics is noted.
- The specific genetic abnormality in CHL has not been defined.
- No known hormonal or endocrinologic abnormalities have been identified.
- Evidence suggests that some cases of CHL are not familial. These cases may represent spontaneous mutations (Beighton, 1970).
- A genetic etiology is proposed for Ambras syndrome.
- Two cases of Ambras syndrome (Baumeister, 1993; Balducci, 1998) were associated with alterations in chromosome 8. Using fluorescence in situ hybridization (FISH), Tadin et al analyzed the original patient described by Baumeister and detected a pericentric inversion of chromosome 8, inv(8)(p11.2q22).
- In an analysis of findings in the second patient reported by Balducci, an association was made with an insertion of the q23-24 region into a more proximal region of the long arm of chromosome 8, most likely at the q13 band, as well as a complex deletion in 8q23 encompassing four separate chromosomal breakpoints.
- The inversion breakpoints in this latter patient have been cloned, and a detailed map of the inversion breakpoint interval has been generated (Tadin-Strapps, 2004).
- Some postulated that the common breakpoint in both patients at 8q22 suggests that this region of chromosome 8 contains a gene involved in regulation of hair growth.
- Though the relationship of these genetic observations to the pathogenesis of hypertrichosis remains uncertain, it has been postulated that the common breakpoint in both patients with Ambras syndrome at 8q22 suggests that this region of chromosome 8 contains a gene involved in regulation of hair growth.
Dermatomyositis
Hirsutism
Mucopolysaccharidoses Types I-VII
Rubinstein-Taybi Syndrome
Other Problems to be Considered
Normal variant hypertrichosis (ie, increased total body hair)
Maternal alcohol abuse during pregnancy
Systemic illness
Hypothyroidism
Anorexia nervosa
Porphyria
Malnutrition
Mucopolysaccharidoses
GM1 gangliosidosis
Drug effects - Corticosteroids, Dilantin, streptomycin, hexachlorobenzene, penicillamine, cyclosporine, diazoxide, minoxidil, heavy metals, sodium tetradecyl sulfate, acetazolamide, interferon
Syndromes (McKusick, 1992; Stengel-Rutkowski, 1979; Martinez Santana, 1993)
Brachmann-de Lange syndrome
Coffin-Siris syndrome
Rubinstein-Taybi syndrome
Seckel syndrome
Cerebro-oculofacioskeletal syndrome
Gorlin syndrome
Schinzel-Giedion syndrome (with midface retraction)
Barber-Say syndrome
Hajdu-Cheney syndrome
Weyers acrofacial-dysostosis syndrome
Osteochondrodysplasia with hypertrichosis
Gingival fibromatosis with hypertrichosis
Amaurosis congenita (cone-rod type) with hypertrichosis
Leprechaunism
Paterson syndrome (pseudoleprechaunism)
Seip syndrome
Partial trisomy 3q syndrome
Lab Studies
- No laboratory tests are indicated for patients with congenital hypertrichosis.
- The diagnosis of CHL is based on clinical and histologic findings, and no laboratory workup is necessary; however, laboratory values may be used to exclude other causes of hypertrichosis.
- The diagnosis of Ambras syndrome may be supported by inversions involving breakpoints in the region of chromosome 8q22.
Imaging Studies
- No imaging studies are indicated for patients with congenital hypertrichosis.
Other Tests
- No additional tests are indicated for patients with congenital hypertrichosis.
Procedures
- Hair biopsy for histologic classification is indicated.
- Biopsy findings may be diagnostic because the type of hair and position of the follicle found on histopathologic analysis can be helpful in excluding alternative diagnoses.
Histologic Findings
Lanugo hairs tend to be nonpigmented. Vellus hair may be pigmented or nonpigmented. Lanugo and vellus hairs can be difficult to distinguish at histologic examination.
Medical Care
- The use of eflornithine (Vaniqa cream), 13.9% or hair removal by means of repeated shaving, depilatory methods (eg, chemical, electric methods), or bleaching can improve the patient's appearance.
- Older techniques of hair removal are mentioned in the literature; these rarely used techniques include diathermy and radiation therapy.
- Clinicians should consider the use of antidepressant medications in patients with psychological sequelae, including depression.
Surgical Care
- Laser hair removal has been proposed as a treatment option, although there are conflicting reports regarding the proposed efficacy of lasers in removing the vellus hairs in CHL.
- Littler found a 40-80% reduction in unwanted hair using the Q-switched Nd:YAG laser after the application of a topical carbon-based solution. This therapy may be a well-tolerated method of hair removal in children because the lower fluences required resulted in decreased associated pain during treatment.
- Vashi points out that because of the difference in the penetrance of laser light into nonpigmented hair versus pigmented hair, laser therapy may not be effective in unpigmented lanugo or vellus hairs (Vashi, 2001).
Consultations
- Genetic consultation may be indicated for the family members of patients with congenital hypertrichosis or Ambras syndrome.
- CHL and Ambras syndrome may have an autosomal dominant pattern of inheritance; however, an association with a genetic defect has not been demonstrated in all patients.
- Belengeanu et al describe 2 siblings with purported Ambras syndrome born to normal parents and propose that these patients might represent either an autosomal recessive pattern or germline mosaicism.
- Psychiatric evaluation may be indicated in patients in whom the physical findings of the syndrome cause psychological morbidity.
The goal of pharmacotherapy is to improve the patient's appearance.
Drug Category: Dermatologic agents
Agents with antiprotozoal action (eg, eflornithine) are effective in patients with hypertrichosis.
| Drug Name | Eflornithine (Vaniqa cream, 13.9%) |
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| Description | Indicated for reduction of unwanted facial hair in women. Interferes with ornithine decarboxylase in skin hair follicles needed for hair growth. Not a depilatory but appears to retard hair growth to improve the condition and patient's appearance. Slows hair growth and improves appearance where applied. Improvement may be seen in 4-8 wk to 6 mo. Clinical studies show that hair returns to previous condition 8 wk after treatment stopped. Studied only on face and adjacent involved areas under chin of individuals with hypertrichosis; therefore, limit use in these areas. Patients will likely need to continue hair-removal methods with eflornithine. |
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| Adult Dose | Apply thin layer to affected and adjacent areas q8h; do not wash treated areas for at least 4 h after application |
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| Pediatric Dose | Not established |
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| Contraindications | Documented hypersensitivity |
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| Interactions | None reported |
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| Pregnancy | C - Safety for use during pregnancy has not been established.
|
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| Precautions | For external use only; transient stinging or burning may occur when applied to abraded or broken skin; reported adverse effects include acne, pseudofolliculitis, headache, dry skin, pruritus, erythema, skin irritation, rash, cheilitis, lip swelling, contact dermatitis, rosacea, bleeding skin, herpes simplex, and numbness |
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Further Inpatient Care
- Further inpatient care is not necessary for patients with CHL.
Further Outpatient Care
- Patients with hypertrichosis may elect to undergo laser treatment for hair removal.
In/Out Patient Meds
- Vaniqa cream may be helpful for retarding the growth of unwanted hair.
Complications
- Compliance issues are the major complications in patients with CHL. Inconvenience, cost, and the patient's dissatisfaction with the appearance of the hair, may influence his or her compliance with a hair removal regimen.
- Psychological sequelae may occur because of the presence of unwanted hair.
Prognosis
- In CHL, hair growth occurs until an average patient age of 2 years. Afterward, hair regresses during adolescence (Suskind, 1971).
- In Ambras syndrome, patients are described as having increased hair growth throughout their lifetime.
Patient Education
- Patients should be aware that hypertrichosis may have a genetic component, and therefore may be inherited by subsequent generations.
- Patients should be aware that the genetic basis for CHL has not been identified, but the overall health of individuals with hypertrichosis is good.
Medical/Legal Pitfalls
- Medicolegal concerns include the misdiagnosis of alternative syndromes, potential adverse effects of medical therapy, and adverse effects of laser therapy.
- Lack of appropriate genetic counseling in families with children with CHL or Ambras syndrome can expose a physician to a liability.
| Media file 1:
Family of Petrus Gonzales, who lived in the 16th century. |
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| Media file 2:
Patients in well-documented cases of Ambras syndrome. (A) Daughter of Petrus Gonzales. (B) Grandson of Schwe Maong. (C) Adrrian Jepticheff. (D) Fedor. |
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Congenital Hypertrichosis Lanuginosa excerpt Article Last Updated: Nov 10, 2006
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