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The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

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 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.

Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.

Clouston Syndrome can be linked to rare sweat gland tumors.

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

Improved nutrition quickly healed the patient's skin lesions.

Björnstad syndrome causes twisted hair from birth.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.

Rapid virilization should be checked for possible ovarian or adrenal cancer.

A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.

A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.

The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.

Brandt syndrome, with symptoms like skin rash, hair loss, and diarrhea, improves quickly with zinc supplements.

NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.

Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.

An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.

A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.

A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.

Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.