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Trans-esophageal echocardiography is crucial for accurately diagnosing heart issues in lupus patients.

Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.

A girl had two rare hair conditions that helped understand their overlap.

A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.

An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.

Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.

A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.

Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.

Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.

Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.

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

The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.

A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.

Clq deficiency is linked to systemic lupus erythematosus symptoms.

Lupus erythematosus panniculitis on the scalp can cause unique geometric hair loss patterns.

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.

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

The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.

The patient has a rare skin condition that shows features of two known disorders.

Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

The twins' condition is unique and doesn't match any known syndromes.

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

The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.

Clouston syndrome can lead to skin cancer, so monitoring is crucial.

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.