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A woman with lymphoma had a rare skin rash on her scalp and forehead, which was hard to diagnose but responded well to treatment.

Pseudopelade of Brocq is a unique hair loss condition, but its cause and development are still not fully understood.

Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.

Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.

Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.

Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.

Basaloid follicular hamartoma is a rare, benign skin growth often misdiagnosed.

An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.

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

An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.

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

Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.

A patient with Sézary syndrome showed improvement after treatment and the study suggested follicular mucinosis might indicate future lymphoma risk.

Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.

A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.

Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

Recognizing bamboo hair helps diagnose Netherton’s syndrome.

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

A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.