Related Terms

• Ectodermal dysplasia, hairy elbows, hairy elbows dysplasia, hypertrichosis cubiti.

Background

• Hairy elbows syndrome (HES), or hypertrichosis cubiti, is a form of ectodermal dysplasia, one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands, cranial-facial structure, and hands. These genetic disorders can be inherited in an autosomal dominant or recessive manner.

• Symptoms of HES include excessive congenital hair growth on the elbows. The hair usually appears symmetrically on the outer surface of the elbows at birth as soft, downy hair, then transforms into the type of hair typically found on the arms, and then becomes more pronounced in early childhood. The hair growth usually regresses partially or fully in adolescence. Onset of hypertrichosis cubiti as late as the age of five has also been reported. Abnormal hair growth may also occur on other parts of the body. Additional symptoms include facial abnormalities, short stature, and intellectual disabilities.

• HES is an inherited genetic disorder (it is passed down among family members). The exact genetic mutation or defect that causes HES is unknown at this time. It is possible that there may be more than one gene defect that can lead to HES. It is not clear how HES is inherited. There are reports of both autosomal dominant and recessive inheritance, as well as cases of spontaneous mutation.

• HES was first described in 1970. HES is extremely rare, with fewer than 30 known cases reported in the scientific literature. HES may be a pure physiological feature and not a medical problem needing treatment. Reports on the lifespan of individuals with HES are lacking. However, because the symptoms do not seem to be serious, it is unlikely that there would be a decrease in lifespan from this condition.

Risk Factors

• Because hairy elbows syndrome (HES) is inherited, the only known risk factor is a family history of the disorder.

Causes

• General: The genetic mutation or defect that causes hairy elbows syndrome (HES) is not known.

• Autosomal dominant: Researchers believe that HES follows a dominant pattern of inheritance. Individuals receive two copies of most genes, one from the mother and one from the father. For a dominant disorder to appear, only one copy of the defectivegene is necessary. If one parent has the disorder, there is a 50% chance that his or her child will have the disorder. If both parents have the disorder, there is a 75% chance that their child will have the disorder.

• Autosomal recessive: There are some reports of HES occurring as an autosomal recessive trait, meaning that an individual must inherit two copies of the defective gene, one from each parent, for the disease to appear. Individuals who inherit only one copy of the defective gene generally have no symptoms and are called carriers, because they can pass on the disorder to their children.

• If one parent is a carrier, or has only one copy of the defective gene, then each child has a 50% chance of inheriting one defective gene and also being a carrier. If both parents are carriers, each child has a 25% chance of inheriting two defective genes, a 50% chance of inheriting only one defective gene, and a 25% chance of inheriting neither defective gene. Therefore, if both parents are carriers, about one out of four children will have HES.

• Random occurrence: In some cases, a person with no family history of HES will develop the disorder. This is caused by a spontaneous mutation in the egg, sperm cells, or developing embryo.

Signs and Symptoms

• Cognitive: People with hairy elbows syndrome (HES) may have intellectual disabilities. Developmental delay may also be present, which may include delays in sensory, language, social, and emotional areas of functioning.

• Face and head: People with HES often have an asymmetrical facial appearance, that is, the two halves of the face do not seem to match. In addition, eyelids may have a droopy appearance (called ptosis), and the head may be abnormally small. Some patients with HES have a round face, wide-set eyes, a large jaw, a small nose, and flared nostrils.

• Hair: The most striking feature of HES is the development of hair on the region of the upper and lower arms near the elbows. This usually develops during infancy but may not be apparent until about five years of age. The hair usually has a downy texture in infancy and becomes coarser during early childhood. Hair on the elbow region may go away by adolescence. Abnormal hair growth may also be present on other parts of the body, including the knees. Hair on the head does not seem to be affected in HES.

• Hands: The hands tend to be small, with abnormally placed thumbs. Some patients with HES have defects in the bones of the hands and fingers.

• Mouth: The roof of the mouth may be high and arched.

• Other: About half of those who have HES are of short stature. Other symptoms include overly flexible or inflexible joints and a "webbed" appearance in the neck.

Diagnosis

• Hairy elbows syndrome (HES) may be suspected with the physical observation of excess hair growth on the elbows and the distinctive features of the face, head, and hands. Individuals with HES may also be of short stature. In addition, a complete physical exam and thorough family history should be completed.

• Currently, genetic tests to aid in the diagnosis of HES are lacking, because the genetic mutation or defect that causes hairy elbows syndrome (HES) is not known.

Complications

• Psychosocial issues: While the excess hair growth seen in hairy elbows syndrome (HES) does not cause any medical complications, it can be associated with severe psychosocial issues. Many options exist for hair removal, but most are temporary and painful or have other drawbacks.

• Speech problems: The roof of the mouth of individuals with HES may be high and arched, which may lead to delayed speech development.

Treatment

• Speech-language therapy: If development of speech is delayed, patients with hairy elbows syndrome (HES) may benefit from speech-language therapy. During speech-language therapy, a qualified speech-language professional (SLP) works with the patient on a one-to-one basis, in a small group, or in a classroom, to help the patient improve speech, language, and communication skills. Programs are tailored to the patient's individual needs.

• Speech pathologists use a variety of exercises to improve the patient's communication skills. Exercises typically start simple and become more complex as therapy continues. For instance, the therapist may ask the patient to name objects, tell stories, or explain the purpose of an object.

• On average, patients receive five or more hours of therapy per week for three months to several years. Doctors typically recommend that treatment be started early to ensure the best possible outcome for the child.

• Education: By law, patients with HES must have access to education that is tailored to their specific strengths and weaknesses. According to the Individuals with Disabilities Education Act, all children with disabilities must receive free and appropriate education. According to the law, staff members of the patient's school should consult with the patient's parents or caregivers to design and write an individualized education plan. The school faculty must document the child's progress in order to ensure that the child's needs are being met.

• Educational programs vary among patients. In general, most experts believe that children with disabilities should be educated alongside their nondisabled peers. The idea is that nondisabled students will help the patient learn appropriate behavioral, social, and language skills. Therefore, some patients with HES are educated in mainstream classrooms. Others attend public schools but take special education classes. Still others attend specialized schools that are equipped to teach children with disabilities.

• Bleaching: Bleaching hair is a quick and painless method that removes the color from hair, making it lighter, softer, and less visible. Bleaching may be most effective on light-skinned individuals. Results may last up to four weeks depending on the rate of new hair growth. Trimming the hair may be preferred if hair growth occurs in specific areas. Trimming reduces the amount of hair but does not affect the rate of hair regrowth.

• Tweezing: Plucking hair with tweezers is slow and potentially painful. Results are temporary, however, and the rate of hair regrowth varies. Plucking may be preferred if hair growth is minor or concentrated in specific areas. Plucking may lead to irritation of the skin and hair follicles and ingrown hairs.

• Shaving: Shaving removes hair at the skin surface, creating a blunt edge that regrows as stubble. Although this method could theoretically be used to remove excess hair on the elbows, having to perform this task on oneself makes this an unpractical tactic.

• Waxing: Waxing excess hair allows hair removal over a greater area but can be very painful and expensive. Wax is applied to the skin, allowed to sit briefly, and removed with the application and rapid removal of a piece of cloth. Because hair is removed from the follicle, new hair that grows may seem finer and softer. Waxing may cause skin and hair follicle irritation. Waxing requires hair of a certain length, so hair must grow to that length between waxings. Waxing may last for up to a month depending on the rate of hair regrowth.

• Chemical depilatories: Depilatories are creams or gels that are applied to the skin to break down the hair. These may be irritating, messy, and expensive, and have an unpleasant odor. Depilatories tend to work best on fine hair and may be best for sensitive areas. The use of depilatories has been associated with allergic reactions of the skin. Widespread and long-term use of depilatories has not been well studied, so depilatories should be used with caution.

• Electrolysis: Electrolysis involves inserting a small needle at the base of an individual hair and delivering an electrical current to kill the follicle. This process can be painful, slow, and expensive, and is generally not recommended for younger people who may not be able to tolerate the discomfort and time required.

• Light therapies: Intense pulsed light (IPL) therapy and laser hair removal use light energy to destroy the follicle and bulb, the source of the hair. These methods work best on people with dark hair and fair skin. There are many different types of laser therapy, which can be somewhat tailored to individual needs.

• Emerging therapies: Eflornithine (Vaniqa®) cream is an emerging permanent hair removal technique that works by interfering with an enzyme essential for hair growth. Side effects may include irritation in the area of application. Studies thus far have focused on adult women; its safety and effectiveness in children and adolescents has not been established.

Integrative Therapies

• Currently, there is not enough scientific evidence on the use of integrative therapies for the treatment or prevention of hairy elbows syndrome (HES).

Prevention

• Because hairy elbows syndrome (HES) is inherited or caused by a spontaneous mutation, there are no known means of preventing it. Genetic tests are currently not available for the defective gene that causes HES. However, genetic counselors may be able to help prospective parents with HES or those who have a family history of HES to understand the risks of passing on the disorder to their children.

Author Information

• This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography

Natural Standard developed the above evidence-based information based on a thorough systematic review of the available scientific articles. For comprehensive information about alternative and complementary therapies on the professional level, go to www.naturalstandard.com. Selected references are listed below.

1. Coleman R, Harper JI. Hairy elbows syndrome (familial hypertrichosis cubiti). Clin Exp Dermatol. 1994 Jan;19(1):86-7. View Abstract

2. Ectodermal Dysplasia Society. www.ectodermaldysplasia.org.

3. Escalonilla P, Aguilar A, Gallego M, et al. A new case of hairy elbows syndrome (Hypertrichosis cubiti). Pediatr Dermatol. 1996 Jul-Aug;13(4):303-5. View Abstract

4. Flannery DB, Fink SM, Francis G, et al. Hypertrichosis cubiti. Am J Med Genet. 1989 Apr;32(4):482-3. View Abstract

5. Koc A, Karaer K, Ergun MA, et al. A new case of hairy elbows syndrome (hypertrichosis cubiti). Genet Couns. 2007;18(3):325-30. View Abstract

6. MacDermott KD, Patton MA, Williams MJ, et al. Hypertrichosis cubiti (hairy elbows) and short stature: a recognizable association. J Med Genet. 1989 Jun;26(6):382-5. View Abstract

7. National Foundation for Ectodermal Dysplasias. www.nfed.org.

8. Natural Standard: The Authority on Integrative Medicine. www.naturalstandard.com.

9. Polizzi A, Pavone P, Ciancio E, et al. Hypertrichosis cubiti (hair elbow syndrome): a clue to a malformation syndrome. J Pediatr Endocrinol Metab. 2005 Oct;18(10):1019-25. View Abstract

10. Visser R, Beemer FA, Veenhoven RH, et al. Hypertrichosis cubiti: two new cases and a review of the literature. Genet Couns. 2002;13(4):397-403. View Abstract