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A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.

Accurate diagnosis of granular parakeratosis is crucial for effective treatment and improvement.

The infant with a urea cycle disorder improved with treatment and a liver transplant.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

Recognizing bamboo hair helps diagnose Netherton’s syndrome.

A rare benign tumor was found in a man's scrotum, highlighting the need for accurate diagnosis.

The document found differences in lesion distribution and microscopic features among trichostasis spinulosa and similar skin conditions.

GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.

Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.

A 2-year-old girl had a hair disorder not shared by her identical twin.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

The study found that sweat glands normally suppress immune responses, but this is disrupted in certain skin diseases, possibly contributing to their development.

Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.

Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.

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

Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.

Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.

NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.

Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.

An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.

A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.

A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

Two cases showed skin abnormalities without bone or neural defects.

Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.

A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.

Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.

A woman with lupus also developed a severe skin condition linked to a genetic factor.

Acquired perforating dermatosis often affects skin in people with kidney issues and diabetes.