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A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.

Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.

A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.

Finasteride shows promise for treating hair loss and excessive hair growth, but more research is needed to confirm its effectiveness and safety.

Some skin diseases and their treatments can negatively affect male fertility.

The document concludes that more multidisciplinary research is needed to understand and treat PCOS, a condition that significantly affects women's health and quality of life.

A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.

The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.

Hair microscopy is useful for diagnosing certain hair loss conditions but has limitations and must be interpreted carefully.

The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.

A gene mutation in mice causes permanent hair loss and skin issues.

A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.

Scientists found a gene in mice that causes early hearing loss.

ALA-PDT is effective and safe for chronic X-ray dermatitis, providing complete or partial remission.

Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.

The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.

Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.

A gene called Gk5 controls lipid production in the skin and affects hair growth.

Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.

Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.

Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.

The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."

The document concludes that PCOS is a complex disorder caused by both genetic and environmental factors, affecting women's health in various ways, and requires personalized treatment.

The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.

Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.

Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.