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Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.

Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

Accurate diagnosis of APL is crucial to avoid unnecessary treatments.

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

5% topical minoxidil improves hair density and quality in monilethrix patients.

No effective treatment exists to stimulate hair growth in atrichia with papular lesions.

A child with a rare vitamin D-resistant condition improved with treatment.

Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.

The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.

21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.

A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.

The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.

Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.

Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.

This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.

A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.

An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.