Search

everythinglearnresearchcommunity

for

Search:↓

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

The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.

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

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

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

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

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

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.

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

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

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

Three new types of a skin blistering disease were found, caused by specific gene mutations.

CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.

A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.

Three siblings with a genetic form of rickets showed different symptoms of the disease.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.

Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.

The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.

An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.

A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.

The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.

Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.

Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.

Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

Antifungal treatment can improve severe skin infections with cutaneous horns.

A rare skin condition causes red and dark patches on the face and limbs.