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Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.

A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.

Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.

The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.

Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.

Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.

Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.

Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.

Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.

Dermoscopy helps diagnose and monitor treatment for hair loss from scarring conditions like discoid lupus and lichen planopilaris.

A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

A rare skin condition causes red and dark patches on the face and limbs.

A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

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

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

A patient with a rare hair condition and skin disorder showed hair improvement after treatment.

A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.

A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.

Vitiligo often runs in families and is linked to genetics and autoimmune factors.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

A specific gene mutation causes complete hair loss without other health issues.

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

Mutations in the KRT16 gene can cause skin and nail disorders.