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Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.

Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.

Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.

Colchicine causes hair loss by damaging hair follicles.

Thallium poisoning can cause worsening nerve damage and vision loss without typical symptoms.

Half of the patients treated with a specific drug for skin cancer experienced hair loss not related to the drug's dosage.

Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.

Ovarian thecomas can cause virilization in postmenopausal women and are treated with surgery.

A 7-year-old girl experienced temporary hair loss due to radiation, with signs of possible hair regrowth.

A woman's shingles infection triggered her first episode of a rare neurological disorder and blood vessel inflammation.

Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.

A young woman with kidney failure had hair loss due to a common hormonal disorder, which improved with hormone therapy.

A 17-year-old developed woolly hair nevus in adolescence, which is unusual, and over time the hair darkened and straightened slightly, but microscopic changes persisted.

Treatment improved some symptoms but not all.

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.

Patients with chronic graft-versus-host disease often have skin problems like vitiligo and alopecia areata.

A Japanese bone marrow transplant patient developed a rare skin cancer possibly linked to long-term use of the medication voriconazole.

Uveodermatological syndrome in dogs is hard to manage and can lead to blindness despite treatment.

Surgical removal of a rare ovarian tumor improved symptoms and hormone levels in a postmenopausal woman.

An 80-year-old woman's severe hair loss was caused by a hormone-secreting ovarian tumor.

The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.

Idiopathic chronic telogen effluvium in women causes sudden hair loss without a known cause, often linked to emotional distress.

An 82-year-old woman's hair turned white suddenly, likely due to a rare form of alopecia that targets pigmented hair.

A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.

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

Premature graying of hair is common and stressful, but not well understood or treated.

Mice without collagen VI have slower hair growth normally but faster regrowth after injury.

Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.

A specific gene mutation causes congenital hair loss.

A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.