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An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.

Trichoscopy can diagnose Netherton syndrome without pulling hairs.

Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.

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.

Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.

The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.

Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.

A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.

An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.

Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.

A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.

5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.

New genetic mutations causing hair loss were found in a Chinese family.

A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.

The patient's hair improved after treatment, but the genetic link is unclear.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.

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

A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

The boy likely has a fungal infection causing hair loss.

The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.

The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.