Hypotrichosis with juvenile macular dystrophy: Difference between revisions
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{{Infobox medical condition | |||
| name = Hypotrichosis with juvenile macular dystrophy | |||
| image = [[File:HJMD.jpg]] | |||
| caption = Clinical presentation of Hypotrichosis with juvenile macular dystrophy | |||
| synonyms = HJMD | |||
| field = [[Dermatology]], [[Ophthalmology]], [[Genetics]] | |||
| symptoms = [[Sparse hair]], [[vision loss]], [[macular dystrophy]] | |||
| onset = [[Childhood]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] in the [[CDH3]] gene | |||
| risks = [[Family history]] | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = [[Alopecia]], [[retinitis pigmentosa]] | |||
| treatment = [[Supportive care]], [[visual aids]] | |||
| prognosis = [[Variable]], often leads to [[vision impairment]] | |||
| frequency = [[Rare]] | |||
}} | |||
{{Short description|A rare genetic disorder affecting hair and vision}} | {{Short description|A rare genetic disorder affecting hair and vision}} | ||
'''Hypotrichosis with juvenile macular dystrophy''' (HJMD) is a rare [[genetic disorder]] characterized by sparse hair growth (hypotrichosis) and progressive vision loss due to [[macular dystrophy]]. This condition is inherited in an [[autosomal recessive]] pattern and is associated with mutations in the [[CDH3]] gene. | '''Hypotrichosis with juvenile macular dystrophy''' (HJMD) is a rare [[genetic disorder]] characterized by sparse hair growth (hypotrichosis) and progressive vision loss due to [[macular dystrophy]]. This condition is inherited in an [[autosomal recessive]] pattern and is associated with mutations in the [[CDH3]] gene. | ||
==Clinical Features== | ==Clinical Features== | ||
===Hypotrichosis=== | ===Hypotrichosis=== | ||
Individuals with HJMD typically present with sparse scalp hair from birth. The hair is often thin, brittle, and may be slow-growing. Over time, affected individuals may experience further hair thinning, but complete baldness is uncommon. | Individuals with HJMD typically present with sparse scalp hair from birth. The hair is often thin, brittle, and may be slow-growing. Over time, affected individuals may experience further hair thinning, but complete baldness is uncommon. | ||
===Juvenile Macular Dystrophy=== | ===Juvenile Macular Dystrophy=== | ||
[[File:Funduskopie_Links_5Jahre.jpg|Fundus image of the left eye showing macular changes|thumb | [[File:Funduskopie_Links_5Jahre.jpg|Fundus image of the left eye showing macular changes|left|thumb]] | ||
The macular dystrophy associated with HJMD usually manifests in childhood or early adolescence. Patients experience progressive loss of central vision, which is crucial for tasks such as reading and recognizing faces. Peripheral vision is typically preserved. The condition is characterized by atrophy of the [[retina]] and changes in the [[retinal pigment epithelium]]. | The macular dystrophy associated with HJMD usually manifests in childhood or early adolescence. Patients experience progressive loss of central vision, which is crucial for tasks such as reading and recognizing faces. Peripheral vision is typically preserved. The condition is characterized by atrophy of the [[retina]] and changes in the [[retinal pigment epithelium]]. | ||
==Genetics== | ==Genetics== | ||
HJMD is caused by mutations in the [[CDH3]] gene, which encodes the protein [[P-cadherin]]. This protein is involved in cell adhesion and is important for the normal development of hair follicles and retinal cells. The disorder follows an [[autosomal recessive]] inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. | HJMD is caused by mutations in the [[CDH3]] gene, which encodes the protein [[P-cadherin]]. This protein is involved in cell adhesion and is important for the normal development of hair follicles and retinal cells. The disorder follows an [[autosomal recessive]] inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of HJMD is based on clinical examination, family history, and genetic testing. Ophthalmological assessments, including [[optical coherence tomography]] (OCT) and [[fundus photography]], are used to evaluate the extent of macular degeneration. | Diagnosis of HJMD is based on clinical examination, family history, and genetic testing. Ophthalmological assessments, including [[optical coherence tomography]] (OCT) and [[fundus photography]], are used to evaluate the extent of macular degeneration. | ||
[[File:OCT_5Jahre.jpg|OCT image showing retinal changes|left|thumb]] | |||
[[File:OCT_5Jahre.jpg|OCT image showing retinal changes|thumb | [[File:Autofluoreszenz_5Jahre.jpg|Autofluorescence image of the retina|left|thumb]] | ||
[[File:Autofluoreszenz_5Jahre.jpg|Autofluorescence image of the retina|thumb | |||
==Management== | ==Management== | ||
There is currently no cure for HJMD, and treatment is primarily supportive. Regular ophthalmological evaluations are recommended to monitor vision changes. Low vision aids and rehabilitation can help affected individuals maximize their remaining vision. Genetic counseling is advised for affected families to understand the inheritance pattern and risks for future offspring. | There is currently no cure for HJMD, and treatment is primarily supportive. Regular ophthalmological evaluations are recommended to monitor vision changes. Low vision aids and rehabilitation can help affected individuals maximize their remaining vision. Genetic counseling is advised for affected families to understand the inheritance pattern and risks for future offspring. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with HJMD varies. While hair abnormalities are usually stable, vision loss is progressive and can lead to significant visual impairment. However, the rate of progression and degree of vision loss can vary among individuals. | The prognosis for individuals with HJMD varies. While hair abnormalities are usually stable, vision loss is progressive and can lead to significant visual impairment. However, the rate of progression and degree of vision loss can vary among individuals. | ||
==Research Directions== | ==Research Directions== | ||
Research is ongoing to better understand the pathophysiology of HJMD and to explore potential therapeutic interventions. Gene therapy and other molecular approaches are areas of active investigation. | Research is ongoing to better understand the pathophysiology of HJMD and to explore potential therapeutic interventions. Gene therapy and other molecular approaches are areas of active investigation. | ||
==See also== | |||
== | |||
* [[Macular dystrophy]] | * [[Macular dystrophy]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Autosomal recessive inheritance]] | * [[Autosomal recessive inheritance]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Ophthalmology]] | [[Category:Ophthalmology]] | ||
[[Category:Dermatology]] | [[Category:Dermatology]] | ||
Latest revision as of 04:17, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Hypotrichosis with juvenile macular dystrophy | |
|---|---|
| |
| Synonyms | HJMD |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Sparse hair, vision loss, macular dystrophy |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the CDH3 gene |
| Risks | Family history |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | Alopecia, retinitis pigmentosa |
| Prevention | N/A |
| Treatment | Supportive care, visual aids |
| Medication | N/A |
| Prognosis | Variable, often leads to vision impairment |
| Frequency | Rare |
| Deaths | N/A |
A rare genetic disorder affecting hair and vision
Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder characterized by sparse hair growth (hypotrichosis) and progressive vision loss due to macular dystrophy. This condition is inherited in an autosomal recessive pattern and is associated with mutations in the CDH3 gene.
Clinical Features[edit]
Hypotrichosis[edit]
Individuals with HJMD typically present with sparse scalp hair from birth. The hair is often thin, brittle, and may be slow-growing. Over time, affected individuals may experience further hair thinning, but complete baldness is uncommon.
Juvenile Macular Dystrophy[edit]
The macular dystrophy associated with HJMD usually manifests in childhood or early adolescence. Patients experience progressive loss of central vision, which is crucial for tasks such as reading and recognizing faces. Peripheral vision is typically preserved. The condition is characterized by atrophy of the retina and changes in the retinal pigment epithelium.
Genetics[edit]
HJMD is caused by mutations in the CDH3 gene, which encodes the protein P-cadherin. This protein is involved in cell adhesion and is important for the normal development of hair follicles and retinal cells. The disorder follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
Diagnosis[edit]
Diagnosis of HJMD is based on clinical examination, family history, and genetic testing. Ophthalmological assessments, including optical coherence tomography (OCT) and fundus photography, are used to evaluate the extent of macular degeneration.
Management[edit]
There is currently no cure for HJMD, and treatment is primarily supportive. Regular ophthalmological evaluations are recommended to monitor vision changes. Low vision aids and rehabilitation can help affected individuals maximize their remaining vision. Genetic counseling is advised for affected families to understand the inheritance pattern and risks for future offspring.
Prognosis[edit]
The prognosis for individuals with HJMD varies. While hair abnormalities are usually stable, vision loss is progressive and can lead to significant visual impairment. However, the rate of progression and degree of vision loss can vary among individuals.
Research Directions[edit]
Research is ongoing to better understand the pathophysiology of HJMD and to explore potential therapeutic interventions. Gene therapy and other molecular approaches are areas of active investigation.
