Search

everythinglearnresearchcommunity

for

Search:↓

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

Plica neuropathica can occur with diffuse alopecia and should be considered in diagnosis.

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

People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

Abnormal scalp whorls can indicate brain development issues but may also be seen in neurologically normal people.

A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.

The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.

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

Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.

A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.

Two adults with unusual scalp fungus symptoms were successfully treated.

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

Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.

Rubbing or pressing on the face can cause small bumps, and changing posture along with certain creams can improve them.

Paeoniflorin protects brain cells by involving a specific protein and neurosteroids.

A rare fungal infection on a child's scalp was successfully treated with antifungal medication.

The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.

p53 protein may help protect or kill neurons under stress.

The term "porokeratotic adnexal ostial nevus" is proposed to unify overlapping skin conditions involving eccrine and hair follicles.

Post-finasteride syndrome causes lasting sexual, neurological, and physical side effects in some people after taking finasteride.

Combining microsurgery with craniofacial reconstruction improves aesthetic results and reduces harm to the area where tissue is taken from.

Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.

Uncombable hair is inherited dominantly with complete penetrance.

An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.

A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.

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