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Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.

The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.

DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.

A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.

Msx2 deficiency in mice leads to bone growth and organ development problems.

Masculinization in affected individuals occurs gradually after puberty due to hormone changes.

A man had rare skin tumors with bone formation and cholesterol deposits.

Ossification in trichilemmal cysts is more common than previously believed.

A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.

The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.

Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.

Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.

Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.

A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.

Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.

Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.

Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.

21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.

Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.

Gene mutations can cause problems in male genital development.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.

Hairy elbows may be linked to short stature, but the exact cause is unclear.

Dexamethasone effectively normalizes elevated steroid levels in girls with premature adrenarche.