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A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

Improving access to hidradenitis suppurativa care can reduce social disparities.

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

SLHA can be hard to diagnose and needs teamwork between specialists.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

Pembrolizumab can cause serious liver issues, requiring close monitoring and early treatment.

The study suggests smoking is common in HS patients but its role is unclear, and more research is needed to understand HS causes.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

A cluster of sulfur-rich hair protein genes was found on chromosome 17.

Hirsutism is excessive hair growth in women often caused by polycystic ovarian syndrome, and identifying the cause is important for managing associated health risks.

The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.

Hidradenitis suppurativa tunnels have different microenvironments, suggesting targeted treatments could be more effective.

Hormonal imbalances and genetics are key in familial hirsutism.

Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.

Mutations in the LIPH gene cause woolly hair in a child.

A vitamin D receptor mutation causes rickets and affects immune responses.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

The document suggests finding a simpler, cheaper way to diagnose Uncombable Hair Syndrome.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.

Truncated hHb1 keratin may play a role in breast cancer cell transformation.

Acne and hidradenitis suppurativa have different causes and risk factors, but both are driven by inflammation and may benefit from treatments targeting interleukin-1.

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

CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.

HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.

A new one-step test can quickly identify skin cancer during surgery.