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Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.

A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.

Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.

Recognizing and treating overlap syndrome in connective tissue diseases is crucial.

Diabetes and necrotizing fasciitis together can be deadly.

SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.

Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.

The case shows skin changes can indicate deeper health issues like insulin resistance, which are challenging to manage.

Genetic variants in specific genes cause a type of hair loss.

Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.

Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.

Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

Warming hands improves blood flow in people with systemic sclerosis.

Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.

An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.

Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.

Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

SLE can occur in young males and cause knee pain.

CCCA affects adolescents too, with genetic and environmental links, requiring careful diagnosis.

A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.

Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.

TTD symptoms vary widely, requiring thorough evaluations.

The G allele of IFITM3 rs12252 is linked to more severe COVID-19.

Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.