hypotrichosis 15

Characteristics of Hypotrichosis 15

Hypotrichosis 15, also known as HYP15, is a rare genetic disorder characterized by sparse or absent hair on the scalp and/or body [1]. This condition can also affect eyebrows and eyelashes, making them sparse or absent as well [2].

The symptoms of HYP15 typically present at birth, with affected individuals exhibiting little to no hair growth on their scalp and body [8]. As they grow older, coarse, wiry, and twisted hair may regrow in some cases [8].

Key Features

• Sparse or absent hair on the scalp and/or body
• Eyebrows and eyelashes may be sparse or absent
• Coarse, wiry, and twisted hair may regrow in some cases
• Autosomal dominant disorder, meaning a single copy of the mutated gene is enough to cause the condition

References

[1] Hypotrichosis-15 (HYP15) is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well [1]. [2] Hypotrichosis 15 (HYP15) is a condition characterized by sparse or absent hair on the scalp and/or body, with eyebrows and eyelashes also potentially being affected [3]. [8] Hypotrichosis is an autosomal dominant disorder characterized by sparse or absent hair at birth followed by regrowth of coarse, wiry twisted hair during childhood [8].

Based on the provided context, here are the signs and symptoms of hypotrichosis:

• Sparse or absent hair at birth: Hypotrichosis is characterized by a lack of hair growth or sparse hair at birth [1].
• Coarse, wiry, twisted hair during regrowth: As the condition progresses, coarse, wiry, and twisted hair may grow back [1].
• Abnormal hair follicle development: The disorder is linked to mutations in proteins involved in hair growth and cell development, leading to abnormal hair follicle formation [5].
• Sparse hair on the scalp: Hypotrichosis is often characterized by sparse or absent hair on the scalp [3, 6].

Additionally, hypotrichosis may be associated with other conditions such as:

• Hypohidrotic ectodermal dysplasia (HED): A genetic disorder that affects sweat glands and can lead to reduced sweating (anhidrosis or hypohidrosis) and sparse hair [4, 7, 9].
• Hair loss: Hypotrichosis may be accompanied by hair loss, which is a more general term for a loss of hair from part of the head or body [10].

Please note that these symptoms are based on the provided context and may not be an exhaustive list.

Based on the provided context, it appears that diagnostic tests for Hypotrichosis-15 (HYP15) may involve genetic testing.

• Genetic testing is mentioned in search result [3] as a possible diagnostic approach for HYP15.
• Search result [12] mentions that HYP15 is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well, suggesting that physical examination and possibly trichoscopic examination (mentioned in search result [15]) may also be used to diagnose HYP15.
• However, it's worth noting that genetic testing is specifically mentioned as a diagnostic approach for HYP15.

It's also worth mentioning that 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, as stated in search result [10].

Therefore, the diagnostic tests for Hypotrichosis-15 (HYP15) may include:

• Genetic testing
• Physical examination
• Trichoscopic examination

Please note that this information is based on the provided context and may not be a comprehensive list of all possible diagnostic tests for HYP15.

Based on the search results, it appears that there are limited treatment options available for Hypotrichosis-15 (HYP15). However, some potential treatments have been explored in research studies.

• Bimatoprost: This medication has been approved by the FDA for the treatment of eyelash hypotrichosis. It is an ophthalmic prostamide analog that can increase the length, thickness, and darkness of eyelashes [7].
• Minoxidil: Topical minoxidil has been found to be effective in improving hypotrichosis, with some patients showing drastic improvement [6]. However, it's essential to note that treatment should only be applied to the upper eyelash area to avoid unwanted hair growth or skin irritation [2].
• Gentamicin: Research suggests that topical gentamicin may be considered as a potential therapeutic modality in Hypotrichosis Simplex Syndrome (HSS) [4]. However, more studies are needed to confirm its effectiveness.
• Platelet-rich plasma injection and minoxidil: A combination of platelet-rich plasma injection and topical minoxidil 2% has been used to treat hypotrichosis simplex with marked improvement in a 14-year-old patient [9].

It's essential to consult a healthcare professional for personalized advice on treating Hypotrichosis-15, as the effectiveness of these treatments may vary from person to person.

References: [1] - Not relevant [2] - Relevant [3] - Not relevant [4] - Relevant [5] - Relevant [6] - Relevant [7] - Relevant [8] - Not relevant [9] - Relevant

Differential Diagnosis of Hypotrichosis

Hypotrichosis, a condition characterized by sparse or absent hair, can be caused by various factors and has multiple differential diagnoses. Here are some possible causes:

• Genetic disorders: Autosomal recessive hypotrichosis simplex with woolly hair (ARHSWH) is a rare genetic disorder that affects hair growth and development [1]. Marie Unna hypotrichosis is another autosomal dominant disorder that leads to sparse or absent hair at birth, followed by regrowth of coarse, wiry twisted hair [2].
• Alopecia: Alopecia present from birth includes a broad differential diagnosis and often represents a diagnostic and therapeutic challenge [3]. Hair loss in early childhood can be caused by various factors, including genetic disorders, autoimmune diseases, and nutritional deficiencies [4].
• Other conditions: Hypotrichosis can also be associated with other conditions such as keratosis follicularis spinulosa decalvans (KFSD), atrichia with papular lesions, and lentiginosis [5]. In some cases, hypotrichosis may be a symptom of an underlying systemic disease.

Possible causes of hypotrichosis:

• Genetic mutations: Mutations in proteins involved in hair growth and cell development can lead to hypotrichosis [6].
• Autoimmune diseases: Autoimmune diseases such as alopecia areata can cause hair loss and hypotrichosis [7].
• Nutritional deficiencies: Nutritional deficiencies, particularly of vitamins and minerals essential for hair growth, can contribute to hypotrichosis [8].

References:

[1] Al Aboud K. Autosomal recessive hypotrichosis simplex with woolly hair. 2011.

[2] Marie Unna hypotrichosis.

[3] Bennàssar A. Alopecia present from birth. 2011.

[4] Ahmed A. Hair loss in early childhood. 2019.

[5] Mahran AM. The differential diagnosis of hypotrichosis. 2017.

[6] Al Aboud KM. Autosomal recessive hypotrichosis simplex with woolly hair. 2011.

[7] Ahmed A. The diagnosis of this disorder is based on both hair hypotrichosis and degenerative and pigmentary abnormalities of the fovea on fundoscopy [5].

[8] Ishorst N. WSS should be included in the differential diagnosis of congenital hypotrichosis or alopecia. 2014.