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A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.

A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.

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

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.

Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.

A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.

Trichothiodystrophy can be linked to urologic issues and high calcium in urine.

Two patients with Cronkhite-Canada syndrome achieved remission after treatment.

CARASIL can cause different symptoms even with the same genetic mutation.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

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

A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.

A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.

Gloriosa superba poisoning can mimic severe tropical infections and cause rapid hair loss.

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

The girl has a genetic hair condition causing thin hair since childhood.

Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.

Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.

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

A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.

A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.

A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.

Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.

A rare EGFR mutation in newborns leads to severe health issues and early death.

Loss of Msx2 function causes eye development issues similar to Peters anomaly.

A young man was diagnosed with a rare hair loss condition usually seen in older women.

Diagnosing Sertoli-Leydig cell tumors is challenging due to their unusual symptoms and can occur at any age.

EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.