Search

everythinglearnresearchcommunity

for

Search:↓

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.

The patient's hair improved after treatment, but the genetic link is unclear.

Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.

The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.

Cyclosporine can cause a unique skin condition called "cyclosporine-induced folliculodystrophy."

MC4R gene variants not linked to female hair loss.

Accurate diagnosis of EFFC is crucial for effective counseling and cosmetic care.

Two patients developed complete hair loss after Alemtuzumab treatment for MS, with no regrowth after two years.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

The patient has frontal fibrosing alopecia (FFA).

Patients with Type 1 diabetes should be screened for pernicious anemia.

Thymoma may link myasthenia gravis, nail dystrophy, and alopecia areata.

A woman with Sheehan syndrome improved with hormone treatment.

Frontal fibrosing alopecia can sometimes look like syphilitic hair loss.

A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

DPR can cause skin, hair, and nail issues, sometimes appearing later in life.

The study found that a key immune pathway protecting hair follicles is reduced in a mouse model of scarring hair loss.

Lower MC2R expression may contribute to alopecia areata.

The scraggly mutation causes hair loss and skin defects in mice.

A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.

A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.

Lupus and frontal fibrosing alopecia may share a common cause.

Patients with severe alopecia areata have higher levels of MIF, which decrease after successful treatment.

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

A woman with lupus experienced hair regrowth after treatment, but hair transplantation is not advised for her condition.

A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.

ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.