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The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.

Some men with early hair loss may have similar hormonal changes to women with Polycystic ovary syndrome, and could be at risk for developing type 2 diabetes.

A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.

A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.

A rare form of lupus caused hair loss and skin bumps, diagnosed through biopsy, improved partially with treatment.

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.

The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.

Discoid lupus erythematosus involves immune activation and fibrosis around hair follicles, with shared pathways across humans, dogs, and mice, suggesting potential treatments for both humans and animals.

Low androgen levels can still cause female pattern hair loss.

A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.

Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.

HtrA2 activity is crucial for normal hair growth by regulating fat cell development.

The patient had a severe itchy rash and hair loss in the armpits.

The document explains the genetic causes and characteristics of inherited hair disorders.

Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.

Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.

A hair growth ointment improved hair length in a family with a genetic hair growth condition.

A woman's hair loss, resembling an autoimmune condition, improved after treatment, but requires ongoing checks due to potential serious associations.

Most patients with frontal fibrosing alopecia had facial bumps, with Hispanic/Latino and premenopausal women being more affected, suggesting a more severe condition.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.

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

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