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A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.

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

Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.

A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.

A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.

A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.

Mutations in the RBPJ gene cause Adams-Oliver Syndrome.

A Saudi girl was diagnosed with Loose Anagen Hair Syndrome, a rare condition causing easy hair loss without scarring.

Superficial granulomatous pyoderma is a unique, mild form of skin disease that often heals without strong medication and responds well to milder treatments.

The study found that Short Anagen Syndrome results in short hair growth not due to hair fragility, and hair may grow longer after puberty.

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

Taking L-tryptophan supplements might cause a condition similar to scleroderma in some people, which can get better after stopping the supplement and starting corticosteroid therapy.

A simple test can help diagnose a rare bruising disorder after ruling out other causes.

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

Aggressive immunosuppressive treatment improved a woman's severe heart condition linked to autoimmune disease.

An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.

A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.

Cutaneous lupus erythematosus is a chronic skin disease that can progress to systemic lupus in some cases and requires treatment to prevent recurrences and scarring.

Tofacitinib successfully treated a woman's severe symptoms from a rare autoimmune condition.

The scraggly mutation causes hair loss and skin defects in mice.

Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.

Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.

A person with Werner syndrome was initially thought to just have female pattern hair loss.

The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.

Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.