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The patient with lupus and Degos' disease showed significant improvement with treatment.

A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.

A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.

A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.

A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.

Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.

Minoxidil treatment improves heart defects in a DiGeorge syndrome model.

Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.

DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.

Polycystic ovary syndrome is a common hormonal disorder in women that affects health and fertility.

A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

High levels of ODC and a mutant Ha-ras gene cause tumors in mice.

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.

A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.

Cats with abnormal hair had DSG4 gene changes causing hair problems.

Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.

If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.