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A 4-year-old boy with a rare type of rickets and hair loss improved in bone health but not hair growth after vitamin D and calcium treatment.

Leptin-deficient mice, used as a model for Type 2 Diabetes, have delayed wound healing due to impaired contraction and other dysfunctional cellular responses.

Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

Laser hair removal is effective for hirsutism when combined with treatment for the underlying causes.

Sudden, unusual hair loss may indicate serious underlying health issues.

A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.

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

In India, most patients with type 1 autoimmune polyglandular failure show symptoms in a specific order, starting with parathyroid gland issues, then yeast infections, and finally adrenal gland failure.

Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.

A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.

A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.

CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.

The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.

A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.

EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

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

Topical 6% salicylic acid effectively reduced skin plaques in a patient with wooly hair and palmoplantar keratoderma.

CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.

CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.

The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.

Researchers made a mouse model with curly hair and hair loss by editing a gene.

Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.