hypotrichosis 6

Hypotrichosis-6 (HYPT6) is a rare genetic disorder characterized by fragile and easily breakable hairs on the scalp, trunk, and extremities. The condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

The symptoms of HYPT6 typically begin in infancy and are characterized by:

• Fragile and easily breakable hairs on the scalp, trunk, and extremities
• Short, sparse hair on the scalp
• Affected eyebrows and eyelashes may also be involved
• Beard, pubic, and axillary hairs are largely spared

In addition to these physical symptoms, people with HYPT6 may also experience hyperkeratotic papules (thickened skin patches) and marked pruritus (itching).

It's worth noting that the condition is caused by a mutation in the DSG4 gene, which plays a crucial role in the development and maintenance of hair follicles. The exact prevalence of HYPT6 is unknown, but it is considered to be a rare disorder.

References:

• [1] Hypotrichosis-6 (HYPT6) is a localized autosomal recessive hypotrichosis characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. (Source: [1])
• [4] Hypotrichosis 6 or localized autosomal recessive hypotrichosis is an autosomal recessive condition caused by a mutation in DSG4 (Table 1) [6]. It is characterized by fragile, short, sparse hairs on the scalp, trunk, and extremities. (Source: [4])
• [15] HYPOTRICHOSIS 6; HYPT6 INHERITANCE - Autosomal recessive [SNOMEDCT: 258211005] [UMLS: C0441748 HPO: HP:0000007] [HPO: HP:0000007] SKIN, NAILS, & HAIR . Skin - Follicular hyperkeratosis of occipital scalp, nape of neck, and extensor surfaces of upper limbs [UMLS: C3277022] - Erythema in affected areas. (Source: [15])

Hypotrichosis Signs and Symptoms

Hypotrichosis, also known as sparse hair syndrome, is characterized by fragile, short, and sparse hairs on the scalp, trunk, and extremities. The condition can also manifest with follicular hyperkeratotic papules and marked pruritus (itchiness) [1].

Some of the common signs and symptoms of hypotrichosis include:

• Sparse hair growth: Hypotrichosis is characterized by sparse hair growth on the scalp due to abnormal hair follicle development [6].
• Fragile, short hairs: The hairs in individuals with hypotrichosis are fragile, short, and sparse, affecting areas such as the scalp, trunk, and extremities.
• Follicular hyperkeratotic papules: These are small, raised bumps on the skin that can be itchy and tender to touch.
• Marked pruritus: Individuals with hypotrichosis often experience intense itchiness, particularly in areas with sparse hair growth.

It's essential to note that hypotrichosis can be a symptom of various underlying conditions, including genetic disorders. If you suspect you or someone else has hypotrichosis, it's crucial to consult a healthcare professional for proper diagnosis and treatment [1].

References: [1] - Context 1 [6] - Context 6

Based on the provided context, diagnostic tests for Hypotrichosis 6 (HYPT6) include:

• Clinical Molecular Genetics test for Hypotrichosis 6 using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) [12]
• Genetic testing using a technique called next-generation sequencing (NGS) to diagnose DSG4 gene hypotrichosis type 6 [8]

These tests are used to confirm the diagnosis of Hypotrichosis 6 and can be ordered through various laboratories, such as Asper Biogene [12].

It's worth noting that establishing care with an engaged primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis [14]. However, this is not a specific diagnostic test for Hypotrichosis 6.

References:

[8] Genetic testing using next-generation sequencing (NGS) to diagnose DSG4 gene hypotrichosis type 6. [12] Clinical Molecular Genetics test for Hypotrichosis 6 and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by Asper Biogene.

Treatment Options for Hypotrichosis

Hypotrichosis, also known as hair loss, can be treated with various medications and other options. Some of the drugs used to treat hypotrichosis include:

• Minoxidil: This medication is applied topically to the affected area and has been shown to promote hair growth in some individuals [6].
• Bimatoprost: A synthetic prostamide analog, bimatoprost has been approved by the FDA for the treatment of eyelash hypotrichosis and may also be effective for eyebrow hypotrichosis [3][4].

Other options for treating hypotrichosis include:

• Hair replacement systems
• Surgery

It's essential to consult a healthcare professional to determine the best course of treatment for individual cases of hypotrichosis.

References: [6] - There are several treatment options available for hypotrichosis, including medications, hair replacement systems, and surgery. Medications such as minoxidil and bimatoprost have been shown to be effective in promoting hair growth. [3] - Available options include bimatoprost, hair transplantation, and minoxidil [Table 2] [2-12]. [4] - Topical bimatoprost was FDA-approved for eyelash hypotrichosis in December 2008. In previous studies bimatoprost, a synthetic prostamide analog used topically, ...

Differential Diagnoses for Hypotrichosis

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

• Monilethrix: A rare genetic disorder that affects hair growth, causing it to become brittle and break easily [6].
• EEM syndrome: A condition caused by mutations in the CDH3 gene, which can lead to sparse or absent hair growth [8].
• Marie-Unna hereditary hypotrichosis: A rare genetic disorder characterized by near-complete absence of scalp hair at birth, development of wiry twisted hair in childhood, and progressive alopecia [14].
• Loose anagen syndrome: A condition where the hair follicles are loose and prone to falling out, leading to sparse or absent hair growth.
• Trichothiodystrophy: A rare genetic disorder that affects hair growth, causing it to become brittle and break easily.

These conditions should be considered in the differential diagnosis of hypotrichosis, as they can all cause similar symptoms. It's essential to consult with a dermatologist or clinical geneticist for an accurate diagnosis and treatment plan.

References:

• [6] Trichoscopy performed with a handheld dermoscope or a videodermoscope may be useful in distinguishing monilethrix from other scalp disorders.
• [8] Differential diagnosis includes EEM syndrome, also caused by CDH3 mutations. DNA-based prenatal diagnosis and genetic counseling are available provided the family history is known.
• [14] The differential diagnosis of HHS includes Marie-Unna hereditary hypotrichosis, loose anagen hair syndrome, trichothiodystrophy, and androgenetic alopecia.