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Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.

ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.

Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

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.

PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.

A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.

Robertsonian translocation can cause recurrent miscarriages.

GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

A Korean girl developed kinky hair without known cause or effective treatment.

Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.

Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.

Type 3 acromegaly patients have more health issues and higher death risk.

A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.

A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.

Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.

Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.

Androgen levels increase with puberty and are linked to sexual hair development.

Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.

THA is a rare condition with no significant clinical consequences if thyroid function is normal.

The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.

Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.

The study concludes that Twenty-nail dystrophy is more common in boys among children and in women among adults, with varying response to treatment.

Ovarian steroid cell tumors can mimic adrenal hyperplasia, and surgery can normalize hormone levels.

A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.

A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.

CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.

Hair and nail changes can indicate health issues, including cancer and side effects from cancer treatments.