Werewolf syndrome

Related Terms

Ectodermal dysplasia, GFH, gingival fibromatosis-hypertrichosis, hypertrichosis fibromatosis gingival, hypertrichosis terminalis generalized with gingival hyperplasia, osteochondrodysplasia, werewolf syndrome.

Background

Gingival fibromatosis and hypertrichosis (GFH) 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.
GFH is a rare inherited genetic disorder that is passed down among family members. It follows an autosomal dominant pattern of inheritance, meaning that only one copy of the defective gene is needed for the condition to appear. There are some reports of autosomal recessive inheritance, meaning that two copies of the defective gene are needed for the condition to appear. The exact genetic mutation or defect that causes GFH is unknown at this time. It is currently unclear whether certain ethnicities or genders are more affected than others.
GFH is characterized by excessive hair growth on the body and enlarged, inflamed gums. Other symptoms may include facial abnormalities, intellectual disabilities, developmental delays, and tooth and skeletal defects.
Patients with GFH may suffer from psychosocial issues associated with excess hair growth. Many try various hair removal techniques with varying levels of success and satisfaction.

Signs and symptoms

General: As suggested by the name of the disorder, the main symptoms of gingival fibromatosis and hypertrichosis (GFH) are enlarged gums and excess hair.
Gums: Gingival fibromatosis is the excessive growth of the gums, which are composed of dense fibrotic tissue. Occasionally the gums may grow to cover the teeth and may cause breathing, speaking, and eating difficulties. The gums may appear firm and pink and have the textural appearance of an orange peel. The lining of the mouth and the tongue may also be affected. These conditions are first seen in childhood.
Hair: Hypertrichosis, or excess hair growth, is one of the two main features of GFH. This condition is different from hirsutism, which is related to hormone levels. Hair growth may be localized to certain areas of the body, such as the face or base of the spine, or may be equally distributed over all parts of the body. Excess hair growth may be apparent at birth but is more likely to develop later in life, especially during puberty.
Other: About half of those with GFH have intellectual disabilities, which can be severe. Others may have developmental delays or seizures. In addition, people with GFH may have poorly developed or abnormally spaced teeth and abnormal facial structures. Males may have enlarged breasts, also known as gynecomastia.

Diagnosis

Gingival fibromatosis and hypertrichosis (GFH) may be suspected with the observation of excess hair growth and overgrown gums, making this condition distinguishable from other ectodermal dysplasias. In addition, a complete physical exam and thorough family history should be completed.
Currently, genetic tests are unavailable to aid in the diagnosis of GFH.

Complications

Complications of gingival fibromatosis and hypertrichosis (GFH) are directly related to the symptoms. Overgrowth of the gums may cause breathing, speaking, and eating difficulties, as well as cosmetic concerns. In addition, people with GFH may be more prone to gum abscesses, which can be painful and can cause tooth decay is left untreated.
While medical complications are not associated with the excess hair growth seen in GFH, this symptom may cause extensive psychosocial issues, especially in children.

Treatment

Gingivectomy: Enlarged gums can be reduced by a procedure called gingivectomy, which removes and reshapes loose, diseased gum tissue to get rid of pockets between the teeth and gums. This procedure may need to be repeated because excess tissue grows back. Diligent oral hygiene and professional care can reduce the need for repeated gingivectomy.
Oral surgery: Tooth extraction may be required for poorly developed or irregularly placed teeth. Restorative surgery may be needed in patients with severe dental problems. In addition, removal of the tonsils and adenoids may help with eating, breathing, and speaking problems caused by obstruction in the mouth and throat.
Speech-language therapy: If enlarged gums interfere with regular speech, patients with GFH 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 GFH 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 GFH 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.
Hair removal: While the excess hair growth seen in gingival fibromatosis and hypertrichosis (GFH) does not cause any medical conditions, it can be associated with severe psychosocial problems. Many options exist for hair removal but most are temporary and may be painful.
Hair 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 in 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 appearance 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 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. This may cause hair regrowth to seem more coarse and thick. Shaving must often be done on a daily basis.
Waxing: Waxing excess hair allows hair removal over greater areas, but it can be 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 growth 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, 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 individuals such as children 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 in 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, and safety and effectiveness in children and adolescents have not been established.
Seizure medications: Some individuals with GFH may have developmental delays or seizures. A common seizure medication, phenytoin, may cause overgrowth of the gum tissue and thus may worsen the symptoms of the disease.

Integrative therapies

Currently there is not enough scientific evidence available on the use of integrative therapies for the treatment or prevention of gingival fibromatosis and hypertrichosis.

Prevention

Because gingival fibromatosis and hypertrichosis (GFH) is an inherited disorder, prevention methods are unknown at this time.
Genetic tests to detect GFH in a child, adult, or fetus are currently lacking. Genetic counselors may be able to help prospective parents with a family history of GHF 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

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Causes

General: The genetic mutation or defect that causes gingival fibromatosis and hypertrichosis is currently unknown.
Autosomal dominant inheritance: GFH usually 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 for the condition to appear. 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 inheritance: There are some reports of GFH occurring as an autosomal recessive disorder. In an autosomal recessive condition, a person must inherit two copies of the defective gene, one from each parent, for the condition to appear. Individuals who inherit only one copy of the defective gene generally have no symptoms and are called carriers because they can pass the disorder on 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 of 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 GFH.
Random occurrence: In some cases, a person with no family history of GFH will develop the disorder. This is caused by a spontaneous mutation in the egg or sperm cells or in the developing embryo.

Risk factors

Currently, the only known risk factor for gingival fibromatosis and hypertrichosis (GFH) is a family history of the disorder. While the exact genetic mutation that causes GFH is unknown at this time, the disease is thought to be passed down among family members in a dominant pattern. In some cases, individuals with no family history of the disease will develop GFH as the result of a spontaneous genetic mutation.