hypotrichosis 8

Hypotrichosis Description

Hypotrichosis refers to a sparsity of hair that is present right at or soon after birth. This condition results in a lack of normal amount of hair, leading to alopecia that is apparent at birth or develops during the neonatal period.

This condition can be caused by various factors, including genetic anomalies, abnormal embryonic development, and congenital conditions. In some cases, hypotrichosis may be inherited as an autosomal dominant or autosomal recessive trait.

The symptoms of hypotrichosis can vary depending on the underlying cause, but they often include:

• Sparse hair growth on the scalp
• Absence or scarcity of scalp hair, eyebrows, and eyelashes at birth
• Hair loss that starts during early childhood and progresses with age

It's essential to note that hypotrichosis is not the same as androgenetic alopecia, which is a type of hair loss caused by hormonal changes.

References:

[7] Hypotrichosis refers to a sparsity of hair that is present right at or soon after birth. This is not the same thing as androgenetic alopecia. [11] Congenital Hypotrichosis is usually caused by a genetic anomaly, or from an abnormality that occurs during embryonic development. [13] Hypotrichosis is a term dermatologists use to describe a condition of no hair growth. Unlike alopecia, which describes hair loss where there was formerly hair growth, hypotrichosis describes a situation where there wasn’t any hair growth in the first place.

Early Signs and Symptoms of Hypotrichosis

Hypotrichosis, a condition characterized by sparse or absent hair growth, can manifest in various ways. According to medical research [8], affected individuals may experience the following early signs and symptoms:

• Hyperammonemia: Elevated levels of ammonia in the blood
• Encephalopathy: Brain dysfunction or damage
• Respiratory alkalosis: Abnormal increase in pH level due to excessive loss of carbon dioxide from the body
• Convulsions: Seizures or muscle spasms
• Liver enlargement: Swelling of the liver

These symptoms can occur early after birth, indicating a severe form of hypotrichosis. As the condition progresses, other symptoms may develop, including hair loss and thinning of the hair shaft.

References:

[8] - Affected individuals become symptomatic early after birth and show hyperammonemia, encephalopathy, respiratory alkalosis, convulsions, liver enlargement, dry skin, and other systemic abnormalities.

Diagnostic Tests for Hypotrichosis

Hypotrichosis, also known as hereditary hair loss, can be diagnosed through a combination of physical examination and medical history. The following diagnostic tests may be performed to rule out any underlying medical conditions:

• Physical Examination: A thorough physical exam is essential to assess the extent and distribution of hair loss.
• Medical History: A detailed medical history helps identify any potential underlying causes, such as genetic disorders or hormonal imbalances.
• Blood Tests: Blood tests may be ordered to rule out any underlying medical conditions that could be contributing to the hair loss. These tests can include:
  • Complete Blood Count (CBC) to check for anemia or other blood-related issues
  • Thyroid function tests to rule out hypothyroidism or hyperthyroidism
  • Hormone level tests to assess hormonal imbalances
• Genetic Testing: Genetic testing may be recommended to identify any genetic mutations that could be contributing to the hair loss. This can include:
  • DNA analysis to identify specific gene variants associated with hypotrichosis
  • Chromosomal analysis to rule out any chromosomal abnormalities

References:

• [9] Blood tests may also be performed to rule out any underlying medical conditions.
• [10] Establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis. A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team.
• [11] Diagnostic tests for hypotrichosis include physical examination, medical history, blood tests, and genetic testing.
• [13] Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. Diagnostic tests include physical examination, medical history, blood tests, and genetic testing.
• [14] IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading.NIH makes no endorsements of tests or laboratories listed in the GTR.

Treatment Options for Hypotrichosis

Hypotrichosis, also known as hair loss or thinning, can be treated with various medications and treatments. Here are some prescription treatment options available:

• Bimatoprost: A synthetic prostamide analog used topically to treat eyelash hypotrichosis. It was FDA-approved in December 2008 for this condition.
• Minoxidil: A medication applied directly to the affected area to stimulate hair growth and slow down hair loss.

These medications can be effective in treating hypotrichosis, but it's essential to consult a doctor or dermatologist to determine the best course of treatment for your specific condition. They will help you weigh the benefits and risks of these treatments and recommend the most suitable option for you.

References:

• [8] Drugs used to treat Eyelash Hypotrichosis
• [3] by RR Riahi · 2018 · Cited by 15 — Available options include bimatoprost, hair transplantation, and minoxidil [Table 2] [2-12].
• [7] There are several treatment options available for hypotrichosis, including medications, hair replacement systems, and surgery. Medications such as minoxidil and ...

Differential Diagnoses for Hypotrichosis

Hypotrichosis, a condition characterized by sparse or absent hair growth, has several differential diagnoses that should be considered in the diagnostic process.

• EEM syndrome: Also caused by CDH3 mutations, EEM syndrome is another condition that can present with hypotrichosis. DNA-based prenatal diagnosis and genetic counseling are available for this condition.
• Other conditions: Other conditions such as alopecia universalis, congenital atrichia with papular lesions, hereditary hypotrichosis simplex, localized autosomal recessive hypotrichosis, demodicosis, dermatophytosis, and superficial pyoderma should also be considered in the differential diagnosis of hypotrichosis.

Genetic Considerations

It's worth noting that some forms of hypotrichosis are inherited in an autosomal dominant or autosomal recessive pattern. Genetic counseling may be necessary to determine the inheritance pattern and provide guidance on family planning.

References:

• [8] Differential diagnosis includes EEM syndrome, also caused by CDH3 mutations.
• [1] Differential diagnoses to be considered are alopecia universalis, congenital atrichia with papular lesions, hereditary hypotrichosis simplex and localized autosomal recessive hypotrichosis.