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The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.

The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.

A rare scalp condition causing hair loss and cysts in young men can be treated effectively with a specific steroid injection.

MESTSV is a rare tumor that is mostly benign but needs long-term monitoring due to potential recurrence.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

Nevus comedonicus is a rare skin condition causing dark bumps, treatable with retinoic acid or surgery.

A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.

A man with KID syndrome developed a rare cancer in a long-term skin infection.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

The Cyp11a1 gene variation has a weak link to PCOS, but higher di-hydro-testosterone levels are found in PCOS patients.

CXXC5 can both suppress and promote cancer, making it a complex target for treatment.

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.

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

A new gene variant causes glucocorticoid resistance in a mother and son.

A 21-year-old male has a rare scalp condition with excessive skin folds.

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

Most women with polycystic ovary syndrome (PCOS) have menstrual issues, infertility, acne, and excessive body hair, with the most common type being the non-androgenic phenotype.

Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.

A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.

A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.

Cystic panfolliculoma resembles hair follicle tumors due to specific cell interactions.

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

Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.

The study found clear differences in lesion distribution and microscopic features among trichostasis spinulosa, keratosis pilaris, and eruptive vellus hair cysts.

Retinoic acid is effective for treating eruptive vellus hair cysts.

Mutations in the CYP21A2 gene are not a major factor in causing PCOS.

A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.