Search

everythinglearnresearchcommunity

for

Search:↓

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.

Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.

Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.

A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.

The boy's symptoms suggest a possible new medical condition.

Trichofolliculoma was found in a person with amniotic band syndrome for the first time.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

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

Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.

An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

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

The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.

An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.

Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.

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

A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

Researchers created a simple tool to predict bladder blockage from prostate enlargement using urine flow rate and prostate volume.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

Treating both bipolar disorder and hair-related BDD with psychiatric medications improved the patient's symptoms.

A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.

An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.