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A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.

The document reports a rare case of ECCL with a new association with optic disc colobomas.

Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.

The woman likely has secondary syphilis, treatable with penicillin.

KLHL24-mutant stem cells help understand skin and heart disease.

One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.

Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.

A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.

The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.

A child had a rare case of scarring hair loss with skin disease, which is hard to treat and stressful.

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

Skin pigmentation increases in CRPS-affected areas and improves with symptom relief.

Inflammation may cause nail issues in Cronkhite–Canada Syndrome.

Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.

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

A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.

A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.

A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.

CARASIL can cause different symptoms even with the same genetic mutation.

Managing myasthenia gravis is crucial and does not worsen primary Sjögren's syndrome.

A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.

A rare scalp condition with hair loss was correctly diagnosed and treated, leading to hair regrowth.

Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.

Two sisters with lipoedematous scalp suggest a genetic influence in the condition.

Mutations in the DSG4 gene cause specific hair and scalp issues.

A rare skin condition with cysts was found on a 5-year-old boy's scalp.

Short anagen syndrome causes short hair that may grow longer after puberty.

Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.