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A 16-year-old boy with lupus had a rare brain artery issue but fully recovered with treatment.

Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.

Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.

Two patients had a rare combination of red skin spots and white scaly skin lesions not on the genitals.

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.

A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.

Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.

Hair follicle stem cells can be transplanted onto the eye using a fibrin carrier to help repair eye damage.

Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.

A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.

A hairless patch on a boy's scalp from birth injury improved with minoxidil treatment.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

A child lost eyelashes on one eyelid after COVID-19, likely due to a temporary hair loss condition.

A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.

Certain eye surgery complications can be managed effectively, especially in patients who have used specific prostate medications.

Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.

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

The modified Crawford technique resulted in less lagophthalmos and better cosmetic outcomes for patients with lateral droop.

A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.

A woman lost vision in one eye after a forehead injection, but prompt treatment led to partial vision recovery.

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.

A Rathke's cleft cyst caused hormonal imbalances and symptoms in a 68-year-old woman.

Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.

A 20-year-old woman had stable Progressive Hemifacial Atrophy and Vitiligo after treatment, suggesting a possible link between the conditions.

A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.

LC-OCT can help identify lupus-related scarring hair loss by spotting unique features.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

The proteins transthyretin and megalin are more present in the growth phase of hair, suggesting they might affect hair health and growth.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.