hypotrichosis 11

Hypotrichosis-11 (HYPT11) is a form of isolated alopecia characterized by diffuse and progressive loss of hair starting in childhood. Affected individuals typically present with sparse to absent scalp hair, and may have [4][9]. This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.

The symptoms of HYPT11 include:

• Diffuse and progressive loss of hair starting in childhood
• Sparse to absent scalp hair
• May have other associated features such as [8]

It's worth noting that there is no treatment for hypotrichosis simplex available, including HYPT11 [9]. The condition is typically managed through supportive care, such as [10].

References:

[4] Hypotrichosis-11 (HYPT11) is a form of isolated alopecia characterized by diffuse and progressive loss of hair starting in childhood. ... For a general phenotypic description and a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389). Disease Ontology11. A hypotrichosis that has material basis in a autosomal ...

[8] Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. ... An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has material basis in homozygous mutation in the ST14 gene on chromosome 11q24...

[9] The locus for LAH3 (characterized ... to 13q14.11-q21.32 and mutations have been identified in a G protein-coupled receptor gene (P2RY5). These receptors belong to the group of lipophosphatidic acid (LPA) receptors and are therefore designated as LPAR6. ... There is no treatment for hypotrichosis simplex available ...

[10] The meaning of DESCRIPTION is an act of describing; specifically : discourse intended to give a mental image of something experienced. How to use description in a sentence. Synonym Discussion of Description.

Signs and Symptoms of Hypotrichosis

Hypotrichosis, a rare form of hereditary hair loss, presents with several distinct signs and symptoms. These include:

• Sparse or absent scalp hair: The most noticeable symptom is the lack of hair on the scalp, which can be complete or partial.
• Variable involvement of eyebrows and eyelashes: In some cases, the eyebrows and eyelashes may also be affected, leading to sparse or absent growth in these areas.
• Coarse, dry, and tightly curled hair: The remaining hair is often coarse, dry, and tightly curled, giving it a woolly appearance.
• Fragile and easily broken hair: The scalp hair may be fragile and prone to breaking, making it difficult to style or manage.
• Lighter-than-expected hair color: In some cases, the scalp hair may be lighter in color than expected.

These symptoms can vary in severity and presentation, but they are generally indicative of hypotrichosis. It's essential to consult a medical professional for an accurate diagnosis and guidance on managing this condition.

References:

• [10] - Autosomal recessive hypotrichosis is characterized by sparse hair (hypotrichosis) on the scalp beginning in infancy.
• [12] - Autosomal recessive hypotrichosis presents with sparse hair (hypotrichosis) on the scalp, coarse, dry, and tightly curled hair, and fragile and easily broken hair.
• [14] - Hypotrichosis is a rare form of hereditary hair loss characterized by little to no hair growth on the head and other parts of the body.

Diagnostic Tests for Hypotrichosis 11

Hypotrichosis 11, also known as autosomal dominant hypotrichosis, is a rare genetic disorder characterized by sparse hair on the scalp due to abnormal hair follicle development. Diagnostic tests are essential for confirming the diagnosis and ruling out other conditions.

• Clinical Molecular Genetics Test: This test uses deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by HNL Genomics to identify genetic mutations associated with hypotrichosis 11 [1].
• Sequence Analysis of the Entire Coding Region: Another clinical molecular genetics test that involves sequence analysis of the entire coding region using NGS/MPS can also be used to diagnose hypotrichosis 11 [4].
• Genetic Testing: Genetic testing should continue according to routine local practice for patients with suspected hypotrichosis 11, and a molecular diagnosis is not required for eligibility [8].

References:

[1] Clinical Molecular Genetics test for Hypotrichosis 11 and using Deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by HNL Genomics [4] Clinical Molecular Genetics test for Hypotrichosis 11 and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel ... [8] The patient is not eligible if they have a molecular diagnosis for their condition. - Genetic testing should continue according to routine local practice for ...

Treatment Options for Hypotrichosis

Hypotrichosis, also known as alopecia, can be a challenging condition to manage. While there is no specific treatment available, various medications and therapies have been explored to promote hair growth or reduce hair loss.

• Topical Minoxidil: This medication has been shown to stimulate hair growth in some individuals with hypotrichosis (1). However, its effectiveness can vary from person to person.
• Platelet Rich Plasma (PRP) Injection: A study published in 2023 found that PRP injection combined with topical minoxidil 2% was effective in treating hereditary hypotrichosis simplex (2).
• Topical Gentamicin: This antibiotic has been used to treat hypotrichosis simplex of the scalp, although its efficacy is still being researched (7).

Important Note

It's essential to note that these treatment options may not work for everyone and can have varying degrees of success. Additionally, there are no FDA-approved treatments specifically designed for hypotrichosis.

References:

[1] Evidence-based (S3) guideline for the treatment of androgenetic alopecia in women and in men - short version. Kanti V, Messenger A, Dobos G, Reygagne P ...

[2] by WM Ramadan · 2023 · Cited by 1 — Successful treatment of hereditary hypotrichosis simplex by platelet rich plasma injection with topical minoxidil 2% ... 11).

[7] by A Peled · 2020 · Cited by 28 — Topical scalp application of gentamicin in patients with hypotrichosis simplex of the scalp (HSS).

Differential Diagnoses for Hypotrichosis 11

Hypotrichosis 11, also known as Marie Unna hereditary hypotrichosis, is a rare genetic disorder characterized by sparse or absent hair at birth, followed by progressive hair loss. When considering the differential diagnoses for this condition, several other conditions should be taken into account.

• Alopecia universalis: This is a condition where all body hair is lost due to autoimmune destruction of hair follicles.
• Congenital atrichia with papular lesions: A rare genetic disorder characterized by complete absence of scalp and body hair from birth, accompanied by skin lesions.
• Hereditary hypotrichosis simplex: A rare genetic disorder characterized by normal hair growth at birth, but with progressive hair loss without any abnormalities in the hair shafts.
• Localized autosomal recessive hypotrichosis: A rare genetic disorder characterized by sparse or absent hair on specific areas of the body.

These conditions should be considered as part of the differential diagnosis for Hypotrichosis 11. It is essential to consider these possibilities when evaluating patients with similar symptoms, and further investigation may be necessary to determine the correct diagnosis.

References:

• [13] Hereditary hypotrichosis simplex is characterized by normal hair growth at birth, but there is hair loss without hair shaft abnormalities.
• [14] better define the NBS clinical spectrum and to perform an in-depth differential diagnosis with other malformation syndromes presenting with congenital hypotrichosis.