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"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 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.

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.

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.

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 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.

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 Hairless gene causes hair loss in two Pakistani families.

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.

A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.

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

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.