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hypotrichosis 5

Description

Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair [1][4][8]. This condition affects the growth and structure of hair, leading to its characteristic twisted appearance.

It's worth noting that there are different types of hypotrichosis, including autosomal recessive hypotrichosis [5], which is a separate condition from HYPT5. However, both conditions share some similarities in terms of their impact on hair growth.

In the case of HYPT5, the twisting hair is a distinctive feature of this condition. This can lead to difficulties with hair care and management, as well as potential emotional and psychological impacts for those affected [1][4].

It's also important to note that hypotrichosis simplex is a separate condition from HYPT5, characterized by a group of rare autosomal dominant and autosomal recessive nonscarring alopecias in which patients are usually born with normal hair [3].

Additional Characteristics

  • Twisting hair
  • Difficulties with hair care and management
  • Potential emotional and psychological impacts

Signs and Symptoms

Signs and Symptoms of Hypotrichosis

Hypotrichosis, also known as sparse hair growth, is a condition characterized by thinning or absence of hair on the scalp and other parts of the body. The signs and symptoms of hypotrichosis can vary depending on the type and severity of the condition.

Common Signs and Symptoms:

  • Sparse Hair Growth: Hypotrichosis is marked by sparse or absent hair growth on the scalp, trunk, and extremities.
  • Fragile and Short Hairs: The hairs that do grow are often fragile, short, and brittle.
  • Redness and Itchiness: Rarely, people with autosomal recessive hypotrichosis may experience skin problems affecting areas with sparse hair, such as redness (erythema) and itchiness.
  • Follicular Hyperkeratotic Papules: Some individuals may develop follicular hyperkeratotic papules, which are small, raised bumps on the skin.
  • Nail Dystrophy: In some cases, hypotrichosis can be accompanied by nail dystrophy, where the nails become brittle or deformed.

Additional Symptoms:

  • Slow Growth: Hypotrichosis may also be associated with slow growth in children and adolescents.
  • Severe Infections: In rare cases, hypotrichosis can lead to severe infections due to T-cell immunodeficiency.
  • Loss of Eyelash Growth: Some individuals may experience a substantial loss of eyelash growth or thinning of the lashes.

References:

  1. [4] Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness ...
  2. [3] Hair loss is diffuse and progressive and usually begins during early childhood.
  3. [5] Patients present with congenital alopecia, nail dystrophy, and severe infections due to T-cell immunodeficiency.
  4. [6] Hypotrichosis is accompanied by symptoms of slow growth, brittle, thin lashes, or a substantial loss of, or no, eyelash growth in particular areas.

Note: The above information is based on the search results provided in the context block.

Additional Symptoms

  • Redness and Itchiness
  • Slow Growth
  • Nail Dystrophy
  • Sparse Hair Growth
  • Fragile and Short Hairs
  • Follicular Hyperkeratotic Papules
  • Severe Infections
  • Loss of Eyelash Growth

Diagnostic Tests

Based on the provided context, it appears that diagnostic tests for Hypotrichosis 5 (HYPT5) are not explicitly mentioned. However, I can provide some general information about diagnostic tests related to hypotrichosis.

  • Clinical examination: A thorough clinical examination by a dermatologist or healthcare provider is essential in diagnosing hypotrichosis. This includes assessing the extent and pattern of hair loss, as well as any associated symptoms (e.g., skin changes, visual acuity issues) [1].
  • Genetic testing: Genetic analysis can confirm the diagnosis of certain types of hypotrichosis, including autosomal dominant and recessive forms. However, it's essential to note that genetic testing is not always necessary for a diagnosis [2].
  • Histopathologic examination: Histopathological examination of skin or hair samples may be performed in some cases to rule out other conditions that may cause similar symptoms [3].

Regarding Hypotrichosis 5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), it is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty [11].

It's essential to consult with a healthcare provider or dermatologist for an accurate diagnosis and guidance on the most suitable diagnostic tests.

References: [1] - Context #8 [2] - Context #7 [3] - Context #4

Treatment

Treatment Options for Hypotrichosis

Hypotrichosis, also known as thinning hair or eyelash loss, can be treated with various medications and therapies. Here are some common treatment options:

  • Topical Minoxidil: This is a popular over-the-counter medication that has been shown to promote hair growth and slow down hair loss [4]. It's available in 2% and 5% strengths.
  • Bimatoprost: This prescription medication was FDA-approved in 2008 for the treatment of eyelash hypotrichosis. It works by increasing the length, thickness, and number of eyelashes [5].
  • Fluorometholone Ophthalmic: This is an ophthalmic steroid that can be used to treat eyelash hypotrichosis [6].

Other Treatment Options

While these medications are effective for some people, they may not work for everyone. In such cases, other treatment options like platelet-rich plasma (PRP) therapy or hair transplantation may be considered.

  • Platelet-Rich Plasma (PRP) Therapy: This is a non-surgical procedure that involves injecting PRP into the scalp to stimulate hair growth [2].
  • Hair Transplantation: This surgical procedure involves transplanting healthy hair follicles from one part of the body to another, usually the scalp [3].

Important Considerations

It's essential to consult with a healthcare professional before starting any treatment for hypotrichosis. They can help determine the best course of action based on individual factors like age, overall health, and medical history.

References: [2] A 14-year-old patient with hypotrichosis simplex was treated with combined platelet-rich plasma injection and topical minoxidil 2% with marked improvement [1]. [3] Both surgical options (follicular unit extraction and direct hair transplantation) can be effective for treating hypotrichosis, but they may not work for everyone [5]. [4] To our knowledge, there have been no effective treatments for ARWH, although some reports have found topical minoxidil to improve hypotrichosis [4]. [5] Topical bimatoprost was FDA-approved in December of 2008 for the treatment of eyelash hypotrichosis [5]. [6] Drugs used to treat Eyelash Hypotrichosis; Generic name: fluorometholone ophthalmic; Drug class: ophthalmic steroids [6].

Recommended Medications

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnoses for Hypotrichosis

Hypotrichosis, a condition characterized by sparse or absent hair growth, can be caused by various factors. When considering differential diagnoses, the following conditions should be taken into account:

  • Ectodermal dysplasias: These are a group of disorders that affect the development of ectodermal tissues, including skin, hair, nails, and teeth. Anomalies in the hair shaft can be caused by these conditions.
  • Hyperadrenocorticism: This is a condition where there is an overproduction of cortisol, leading to thinning or loss of hair on the scalp.
  • Follicular dysplasia: A rare genetic disorder that affects the development of hair follicles, resulting in sparse or absent hair growth.
  • Demodicosis: An infestation by Demodex mites, which can cause hair loss and other skin symptoms.
  • Dermatophytosis: A fungal infection that can affect the scalp and lead to hair loss.

According to [8], anomalies of the hair shaft caused by ectodermal dysplasia should be ruled out. Additionally, mutations in the CDH3 gene can also appear in EEM syndrome, which is another condition that affects hair growth [5].

It's essential to consider these differential diagnoses when evaluating patients with hypotrichosis to ensure accurate diagnosis and treatment.

References:

[1] - Congenital atrichia with papular lesions [2] - Marie Unna hypotrichosis [3] - Autosomal recessive hypotrichosis simplex with woolly hair [4] - Autosomal recessive hypotrichosis [5] - Hypotrichosis with juvenile macular degeneration [8] - Differential diagnosis of hypotrichosis

Additional Differential Diagnoses

  • Ectodermal dysplasias
  • Hyperadrenocorticism
  • Follicular dysplasia
  • Demodicosis
  • dermatophytosis

Additional Information

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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.