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Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.

A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.

Early diagnosis of trachyonychia improves treatment and reduces psychological and cosmetic issues.

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

Myotonic dystrophy may be classified as a segmental progeroid disorder.

A specific gene mutation causes severe skin and nail issues and hair loss.

Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.

Four children had unmanageable pale blond hair due to uncombable-hair syndrome.

A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

Frontal fibrosing alopecia can affect African men and may be underdiagnosed.

Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.

Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.

Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.

A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.

The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.

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

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.

The conclusion is that Darier-White disease was accurately described by White but he missed the key feature of dyskeratotic cells which Darier identified.

Frontal fibrosing alopecia is a scarring hair loss condition mainly affecting postmenopausal women, with unclear causes.

A CCS patient with severe complications was successfully treated using combined therapies.

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

People with Down syndrome often have skin issues and need regular check-ups for early treatment.