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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.

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.

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.

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.

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

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

A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.

Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.

Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.

TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.

The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.

Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.

Alopecia areata is an autoimmune disease where T cells attack hair follicles.

Common variants in the Trichohyalin gene are linked to straight hair in Europeans.