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hypotrichosis 7
Description
Hypotrichosis 7, also known as autosomal recessive hypotrichosis, is a genetic condition that affects hair growth. People with this condition have sparse or absent hair on the scalp, body, eyebrows, and eyelashes [5]. It can also manifest as woolly hair, which is characterized by tightly curled and coarse hair [5].
The symptoms of hypotrichosis 7 typically begin in infancy and can be quite noticeable from birth. The affected individuals may have sparse or absent hair on the scalp, body, eyebrows, and eyelashes, with some cases showing woolly hair as well [1][2][6]. In some instances, the condition may also cause the hair to grow back in a coarse, wiry, and twisted manner during childhood [8].
It's essential to note that hypotrichosis 7 is an autosomal recessive disorder, meaning that it requires a specific genetic mutation to manifest. This condition can be caused by mutations in the LIPH gene, which plays a crucial role in hair growth and development [3][4].
Additional Characteristics
- sparse or absent hair on scalp
- sparse or absent hair on body
- sparse or absent hair on eyebrows
- sparse or absent hair on eyelashes
- woolly hair
- coarse, wiry, twisted hair
Signs and Symptoms
Hair Loss: The Most Common Symptom
The most common symptom of hypotrichosis is hair loss, which can occur in patches or all over the body. Hair loss can be partial or complete. In some cases, the hair loss may start during early childhood.
- Patchy or Complete Hair Loss: Hypotrichosis can cause patchy or complete hair loss on the scalp, eyebrows, eyelashes, and other areas of the body.
- Variable Involvement: The extent of hair loss can vary from person to person, with some individuals experiencing only partial hair loss while others may have complete hair loss.
- Early Childhood Onset: Hair loss in hypotrichosis often begins during early childhood, although it can also occur at birth or later in life.
According to [7], the most common symptom of hypotrichosis is indeed hair loss. This can be a distressing condition for those affected, and it's essential to seek medical attention if you're experiencing any symptoms of hypotrichosis.
Additional Symptoms
- Variable Involvement
- Early Childhood Onset
- hair loss
Diagnostic Tests
Based on the provided context, it appears that there are diagnostic tests available for hypotrichosis type 7.
According to search result [12], autosomal recessive hypotrichosis is a condition that affects hair growth, and people with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair).
Search result [15] mentions "GTR Test ID" which refers to a specific test for hypotrichosis type 7. However, it does not provide detailed information about the diagnostic tests.
It's worth noting that search result [13] cautions that NIH does not independently verify information submitted to the GTR, and patients should contact a healthcare provider or a professional organization (such as GARD) for accurate and reliable information.
Therefore, based on the available information, it seems that there are diagnostic tests available for hypotrichosis type 7, but more specific details about these tests are not readily available in the provided context. If you're looking for detailed information about diagnostic tests for this condition, I would recommend consulting a healthcare professional or a reputable medical organization.
Citations: [12] - Autosomal recessive hypotrichosis is a condition that affects hair growth. [15] - GTR Test ID Help
Additional Diagnostic Tests
- Hypotrichosis type 7 diagnostic tests available
- GTR Test ID for hypotrichosis type 7
Treatment
Treatment Options for Hypotrichosis
Unfortunately, there are no specific treatments available for hypotrichosis simplex, which is a form of hair loss characterized by thinning or absence of hair on the scalp.
- No known treatment: As per [7], there is currently no effective treatment available for hypotrichosis simplex.
- Counseling as mainstay of management: According to [3], counseling is the primary approach to managing hypotrichosis, with a focus on educating patients about their condition and providing emotional support.
However, some studies have explored potential treatments for related conditions. For instance:
- Topical minoxidil: Research has shown that topical minoxidil may improve hair density and thickness in certain forms of congenital hypotrichosis [2].
- Gentamicin treatment: A study found that topical gentamicin treatment can partially rescue the hypotrichosis phenotype in patients with HSS, suggesting a potential therapeutic approach for this condition [1].
It's essential to note that these findings are limited to specific forms of hypotrichosis and may not be applicable to all cases. Further research is needed to develop effective treatments for hypotrichosis simplex.
References: [1] by A Peled · 2020 · Cited by 28 [2] by M Vastarella · 2022 · Cited by 3 [3] by WM Ramadan · 2023 · Cited by 1 [7] by A Peled · 2020 · Cited by 28
Recommended Medications
- Topical minoxidil
- Gentamicin treatment
💊 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
Hypotrichosis 7, also known as autosomal recessive congenital hypotrichosis, can be challenging to diagnose due to its rarity and similarity in symptoms with other conditions. However, several differential diagnoses need to be considered for accurate diagnosis.
- Alopecia universalis: This condition is characterized by the complete loss of hair on the body, including the scalp, eyebrows, and eyelashes. It is a rare autoimmune disorder that can be caused by various factors, including genetic mutations.
- Congenital atrichia with papular lesions: This is a rare genetic disorder that affects hair growth from birth. It is characterized by the absence of hair on the body, including the scalp, eyebrows, and eyelashes, accompanied by skin lesions.
- Hereditary hypotrichosis simplex: This condition is inherited in an autosomal dominant pattern and is characterized by sparse or absent hair on the scalp, eyebrows, and eyelashes. It can also manifest as woolly hair.
- Localized hypotrichosis: This condition affects specific areas of the body, such as the scalp, eyebrows, or eyelashes, and is often associated with other genetic syndromes.
It's essential to note that a comprehensive medical evaluation, including a detailed family history, physical examination, and laboratory tests, is necessary to rule out these differential diagnoses and confirm the diagnosis of hypotrichosis 7.
References: * [3] lists alopecia universalis as one of the differential diagnoses for hypotrichosis. * [4] mentions congenital atrichia with papular lesions as a condition that needs to be considered in the differential diagnosis. * [5] and [6] discuss hereditary hypotrichosis simplex and localized hypotrichosis, respectively, as conditions that can be confused with hypotrichosis 7.
Additional Differential Diagnoses
- Hereditary hypotrichosis simplex
- Localized hypotrichosis
- alopecia universalis
- atrichia with papular lesions
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0110704
- core#notation
- DOID:0110704
- oboInOwl#hasDbXref
- MIM:604379
- IAO_0000115
- A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2.
- rdf-schema#label
- hypotrichosis 7
- oboInOwl#hasExactSynonym
- total Mari type hypotrichosis,
- rdf-schema#subClassOf
- t370074
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_5041
- owl#annotatedSource
- t370195
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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.