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A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

A girl had two rare hair conditions that helped understand their overlap.

Genetics, nutrition, lifestyle, and hormones affect early grey hair, but more research is needed.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.

Mutations in the SNRPE gene cause hereditary hair loss.

Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.

A 10-year-old boy had the earliest reported case of hair that became progressively kinkier but eventually returned to normal on its own.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

Endocrine diseases in children can cause various skin and hair changes.

The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.

Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.

The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.

Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.

Genes linked to fibrosis are more active in people with central centrifugal cicatricial alopecia.

Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.

PRIDE syndrome includes skin and hair issues from cancer treatment with EGFR inhibitors.

A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.

An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.

Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.

Older adults commonly experience wrinkles, itchy skin, psoriasis, fungal infections, skin growths, grey hair, hair loss, and nail ridging, but no skin cancer was found in this group.

A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.

VHL disease can cause early paragangliomas, needing lifelong monitoring.

An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.

Loose Anagen Syndrome causes easy-to-pull, thin hair, mainly in young girls, and improves with age.