Congenital hypertrichosis lanuginosa (CHL) is a rare genetic condition characterized by excessive hair growth, especially on the face and neck. It is a congenital disorder that affects both males and females, and is usually evident at birth or in early infancy. CHL is caused by mutations in several different genes, which result in an overproduction of hair follicles and an increase in hair density.

There are several main lists of CHL, which include the following:

1. Types of CHL

There are several different types of CHL, each with different characteristics and causes. Some of the most common types of CHL include:

• CHL with gingival hyperplasia: This type of CHL is characterized by excessive hair growth on the face and neck, as well as abnormal growth of the gums.
• CHL with hypertrichosis universalis: This type of CHL is characterized by excessive hair growth on the entire body, including the face, neck, arms, legs, and trunk.
• CHL with hypertrichosis terminalis: This type of CHL is characterized by excessive hair growth on the face and neck, as well as the hands and feet.
• CHL with hypertrichosis cubiti: This type of CHL is characterized by excessive hair growth on the elbows.

Causes

Congenital hypertrichosis lanuginosa (CHL) is a rare genetic disorder that causes excessive hair growth all over the body, including the face, from birth. The hair is usually long, fine, and silky, resembling the hair of a newborn baby (lanugo hair). The excessive hair growth in CHL is usually limited to the body and does not involve the scalp.

The exact causes of CHL are not fully understood, but several genetic and environmental factors are believed to contribute to its development. Here are the main lists of causes of CHL:

1. Genetic mutations: The majority of cases of CHL are caused by genetic mutations that affect the regulation of hair growth. The mutations can occur in several genes, including the KRT71, GPR56, and FGF5 genes. These genes play a crucial role in regulating hair growth and are responsible for producing proteins that control hair follicle development and hair growth.
2. Chromosomal abnormalities: Some cases of CHL are caused by chromosomal abnormalities, such as deletions or duplications of genetic material. These abnormalities can disrupt the normal functioning of genes involved in hair growth regulation and lead to excessive hair growth.
3. Environmental factors: Environmental factors, such as exposure to chemicals, toxins, or radiation, can also contribute to the development of CHL. These factors can disrupt the normal functioning of hair follicles and cause excessive hair growth.
4. Maternal use of drugs: Maternal use of drugs during pregnancy, such as alcohol, tobacco, and certain medications, can increase the risk of CHL in the offspring. These drugs can interfere with the normal functioning of hair follicles and cause excessive hair growth.
5. Family history: CHL can be inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder. This suggests that a family history of CHL can increase the risk of developing the disorder.

It is important to note that the exact causes of CHL can vary from person to person and that multiple factors may contribute to its development. In some cases, the underlying cause of CHL may remain unknown.

Symptoms

The symptoms of congenital hypertrichosis lanuginosa can range from mild to severe and can have a significant impact on an individual’s quality of life.

1. Excessive hair growth: This is the most obvious and defining symptom of congenital hypertrichosis lanuginosa. Individuals with this condition have an abnormal amount of hair growth on their face, neck, upper body, and sometimes on the arms and legs. The hair is usually soft, fine, and downy, resembling the hair found on newborns.
2. Hirsutism: Hirsutism refers to the presence of hair in areas where hair growth is typically not seen in women. Women with congenital hypertrichosis lanuginosa may experience excessive hair growth on the face, chest, back, and arms.
3. Facial abnormalities: Some individuals with congenital hypertrichosis lanuginosa may have other facial abnormalities, such as a prominent brow ridge, a small nose, and a receding chin. These abnormalities may be due to the presence of hair on the face and the pressure it places on the underlying bones.
4. Nail abnormalities: Some individuals with congenital hypertrichosis lanuginosa may have abnormal nail growth, such as thickened nails or nails that grow in a curved shape.
5. Developmental delay: Some individuals with congenital hypertrichosis lanuginosa may experience developmental delays, such as delayed speech and language development, slow motor development, and intellectual disability.
6. Cognitive impairments: Some individuals with congenital hypertrichosis lanuginosa may experience cognitive impairments, such as memory problems, difficulty with problem-solving and attention deficits.
7. Psychological impact: The excessive hair growth associated with congenital hypertrichosis lanuginosa can have a significant impact on an individual’s quality of life, leading to feelings of shame, embarrassment, and social isolation. This can result in low self-esteem and anxiety, which may lead to depression.
8. Physical discomfort: The excessive hair growth can also cause physical discomfort, such as itching and skin irritation. In some cases, the hair may become matted and infected, leading to pain and discomfort.
9. Sleep disturbances: Some individuals with congenital hypertrichosis lanuginosa may experience sleep disturbances, such as difficulty falling asleep or staying asleep. This may be due to the pressure of the hair on the face and neck, or the discomfort caused by itching and skin irritation.
10. Respiratory difficulties: Excessive hair growth can also lead to respiratory difficulties, as the hair may obstruct the airways and make it difficult to breathe.
11. Vision problems: In some cases, the hair may grow in such a way as to obstruct an individual’s vision, leading to difficulty seeing and potential vision loss.
12. Hearing difficulties: Excessive hair growth may also lead to hearing difficulties, as the hair may obstruct the ear canals and make it difficult to hear.

Diagnosis

Diagnosing CHL can be challenging, as the symptoms of CHL are not specific to the condition and can resemble other disorders. A comprehensive diagnostic evaluation typically involves a combination of clinical examination, medical history, and various diagnostic tests. Here are the main lists of diagnostic tests used to diagnose CHL:

1. Physical Examination: A thorough physical examination is the first step in diagnosing CHL. The doctor will examine the patient’s skin and hair, looking for signs of excessive hair growth, and will also assess the texture and distribution of the hair.
2. Family History: The doctor will also take a detailed medical history, including a family history of CHL or any other related disorders.
3. Blood Tests: Blood tests can help to determine if the patient has any underlying medical conditions that may be contributing to the excessive hair growth. Blood tests can also help to determine the patient’s hormonal levels, which can be disrupted in some cases of CHL.
4. Skin Biopsy: In some cases, a skin biopsy may be necessary to confirm the diagnosis of CHL. A skin biopsy involves removing a small piece of skin for examination under a microscope.
5. Genetic Testing: Genetic testing can help to confirm a diagnosis of CHL and to determine if the patient has inherited the condition from a parent. Genetic testing can also help to identify the specific genetic mutation responsible for CHL.
6. Imaging Tests: Imaging tests, such as X-rays or MRI, can help to rule out other conditions that may be causing the excessive hair growth, such as tumors or other structural abnormalities.
7. Electron Microscopy: Electron microscopy is a specialized diagnostic test that uses an electron microscope to examine hair samples at a high magnification. This test can help to determine the exact structure of the hair and to identify any anomalies that may be contributing to the excessive hair growth.
8. Hormonal Tests: Hormonal tests can help to determine if there are any imbalances in the patient’s hormonal levels that may be contributing to the excessive hair growth. Hormonal tests can include tests for testosterone, estrogen, and other hormones.

The specific diagnostic tests used to diagnose CHL will depend on the individual patient and their symptoms. A comprehensive diagnostic evaluation will typically involve a combination of several of these tests to rule out other conditions and to confirm a diagnosis of CHL.

Treatment

There is currently no cure for CHL, but there are several treatments that can help manage the symptoms. In this article, we will discuss the main lists of treatments for CHL.

1. Hair Removal

One of the most common treatments for CHL is hair removal. This can be done through various methods, including shaving, waxing, plucking, or laser hair removal. Shaving is the simplest and most affordable option, but it requires daily maintenance and can cause skin irritation. Waxing and plucking are also effective, but they can be painful and cause redness or swelling. Laser hair removal is a long-lasting solution that uses a laser beam to destroy hair follicles, but it can be expensive and requires multiple sessions.

2. Topical Medications

Topical medications such as creams, gels, or lotions can be used to reduce hair growth. Eflornithine is a topical cream that is commonly used to treat CHL. It works by inhibiting the activity of an enzyme called ornithine decarboxylase, which is involved in hair growth. Minoxidil is another topical medication that can be used to reduce hair growth. It works by increasing blood flow to the hair follicles, which stimulates hair growth.

3. Hormonal Therapy

Hormonal therapy is sometimes used to treat CHL, especially in females. Hormonal imbalances can cause excessive hair growth in some individuals, and correcting these imbalances can help reduce hair growth. For example, hormonal therapy can help regulate menstrual cycles and reduce the levels of androgens (male hormones) in the body. Hormonal therapy can be administered through oral medications, injections, or topical medications.

4. Surgical Procedures

Surgical procedures can be used to treat CHL in severe cases. These procedures can include hair transplantation, skin grafting, or tissue excision. Hair transplantation is a surgical procedure in which hair follicles are taken from one area of the body and transplanted to another area. This can be used to improve the appearance of hair growth in affected areas. Skin grafting is a procedure in which a piece of skin is taken from one area of the body and transplanted to another area. This can be used to cover areas of excessive hair growth. Tissue excision is a procedure in which tissue is removed from the body. This can be used to remove areas of excessive hair growth.

5. Psychological Support

Living with CHL can be difficult, especially for individuals who are self-conscious about their appearance. Psychological support can help individuals cope with the emotional and social challenges of CHL. This can include counseling, support groups, or therapy. Talking to a mental health professional can help individuals deal with feelings of anxiety, depression, or low self-esteem that can often accompany CHL.

In conclusion, there are several treatments available for CHL, including hair removal, topical medications, hormonal therapy, surgical procedures, and psychological support. The best treatment will depend on the individual’s specific needs and the severity of their condition. It is important for individuals with CHL to seek the advice of a doctor or dermatologist to determine the best course of treatment for their specific case. With the right treatment, individuals with CHL can manage their symptoms and improve their quality of life.