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A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.

Two patients with Cronkhite-Canada syndrome achieved remission after treatment.

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

Cantú syndrome may be linked to pituitary adenomas.

A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.

Cronkhite-Canada Syndrome often leads to death within 6-18 months.

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

Studying premature aging syndromes helps understand human aging and suggests potential treatments.

A 4-year-old girl has a rare hair condition causing fragile, short hair.

People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.

Tigason improved hair growth in a boy with monilethrix without side effects.

A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

People with Down's syndrome are more likely to have syringomas.

A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.

The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.

Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.

Pili torti hair is fragile due to loose keratin filaments and weak disulfide bonds.

Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.

A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.

Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.

Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.

Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.

A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.