Search

everythinglearnresearchcommunity

for

Search:↓

Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.

A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

Infants with scalp injuries developed a skin condition that improved with steroid creams.

A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.

Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.

Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.

Some patients who had a severe drug reaction developed long-term hair loss.

A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.

Neonatal lupus symptoms usually resolve, but some children may develop other autoimmune diseases later.

Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.

Selumetinib effectively reduces tumor size in many children with neurofibromatosis type 1, but can cause skin and hair issues.

Generalized trichoepitheliomas with hair loss may indicate myasthenia gravis.

People with TED often have low B12 levels and might benefit from B12 supplements.

Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.

A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

Newborn skin conditions like Epstein pearls and Mongolian spots are common and influenced by race, environment, and hormones.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

People with ectodermal dysplasias often have reduced saliva production and should get saliva tests.

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

VKHD and sarcoidosis may share a common cause.

Hair loss was the first sign of a brain-related complication in a woman with lupus, and early treatment helped her hair grow back.

Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

A rare EGFR mutation in newborns leads to severe health issues and early death.

Hair loss may be a delayed side effect of Multisystem Inflammatory Syndrome in children after COVID-19.

A man with KID syndrome developed a rare cancer in a long-term skin infection.

Children with different rheumatologic diseases have specific skin symptoms that can help with diagnosis.

Eating disorders often cause skin issues, which can help in early diagnosis and treatment.