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A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

Correct diagnosis is crucial for treating overlapping conditions like NMOSD and SLE effectively.

A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.

A rare scalp condition can occur due to leukemia affecting the skin.

Thalamic stroke can cause delirium without other symptoms, especially in older adults.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.

Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.

A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.

A rare case showed basal cell carcinoma and leiomyosarcoma coexisting, needing careful diagnosis and treatment.

Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.

Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A woman with lupus had unusual symptoms like blisters, skin inflammation, and throat ulcers, which improved with steroid and dapsone treatment.

The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.

Lupus enteritis is a rare but serious gut inflammation in lupus patients, often hard to diagnose without prior lupus symptoms.

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.

Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.

Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.

Cantú syndrome may be linked to pituitary adenomas.

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

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.

Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.

A rare skin condition usually on the face was found on a man's heel.

A woman with lupus and severe nerve damage improved with specific treatments.

Netherton syndrome causes specific skin and hair changes that help in early diagnosis.

Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.

The patient has a leg condition caused by vein issues, needing lifestyle changes and leg care.

A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.