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The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.

One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.

Early diagnosis and treatment of myositis in SLE patients lead to positive outcomes.

Infliximab may cause hair loss in Crohn's disease patients.

Using special RNA to target a mutant gene fixed hair problems in mice.

An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

The same gene mutation can cause different symptoms in family members.

The man has a genetic skin condition called pachyonychia congenita.

Enteric hyperoxaluria can cause severe kidney failure after bowel surgery.

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

AGA patients have lower serum vaspin levels, which might help detect the condition early.

Hair-straightening products with glyoxylic acid can cause kidney damage.

A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.

Azathioprine caused side effects in over half of the Korean pediatric inflammatory bowel disease patients, requiring close monitoring.

Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.

A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.

A new therapy for a skin blistering condition has not been developed yet.

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

Men with X-linked recessive ichthyosis often experience male-pattern baldness.

A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.

A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.

A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.

Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

Abrocitinib may help treat alopecia areata effectively with mild side effects.

Upadacitinib is effective and safe for treating severe Alopecia Areata in adolescents.

Increasing SSAT makes skin more prone to cancer.