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A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.

The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.

Most skin conditions in Down syndrome are benign and involve dry or thickened skin.

A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

Triangular temporal alopecia can occur in adults and should be correctly identified to prevent misdiagnosis.

Ossification in trichilemmal cysts is more common than previously believed.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.

Early detection and removal of hair can prevent damage in hair-thread tourniquet syndrome.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.

A severe medication reaction required long treatment and led to hair loss and thyroid issues.

A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.

Borderline newborn screening results should be carefully evaluated to prevent delayed diagnosis of thyroid issues.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

Inflammation may cause nail issues in Cronkhite–Canada Syndrome.

The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.

The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.

A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.

Narrowband UVB therapy significantly improved a child's rare skin condition.

A specific gene mutation causes woolly hair and hair loss.

A rare skin condition causes red and dark patches on the face and limbs.

A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

A child's toe was saved from a rare condition where hair tightly wrapped around it by performing surgery.