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Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

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

Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.

A woman with anorexia nervosa improved after treatment for pellagra, reminding doctors to check for this deficiency in patients with eating disorders.

Allergens might contribute to CCCA, so avoiding them could help manage the condition.

A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.

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

A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.

Clq deficiency is linked to systemic lupus erythematosus symptoms.

Skin problems can be a sign of hormone-related diseases.

A leukemia patient showed skin peeling similar to kwashiorkor, a severe protein deficiency.

A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.

CCCA may involve the PD1/PDL1 pathway and increased caspase 3, leading to permanent hair loss.

The patient had a severe allergic reaction to gold treatment.

Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.

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

Zinc supplements effectively treat acrodermatitis enteropathica.

Telitacicept effectively improved hair regrowth in a woman with lupus and alopecia.

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.

Trichothiodystrophy can be linked to urologic issues and high calcium in urine.

Thiopurines help treat IBD but require genetic testing to avoid side effects.

Cyclophosphamide has serious side effects, but long-term follow-up can help manage risks.

Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.

Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.

Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.

Semaglutide may worsen eating disorders in vulnerable individuals.

Dacomitinib can cause nail and skin issues, but these can be managed without stopping the drug.