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The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

Mutations in keratin genes cause cell fragility and various skin disorders.

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

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

Trichothiodystrophy causes unusual hair and developmental issues.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.

A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.

A rare gene variant causes hair and nail issues in a family.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.

KID syndrome should be reclassified as an ectodermal dysplasia.

Uncombable hair syndrome is linked to Zellweger syndrome.

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.

A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.

Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.

A new genetic mutation in the hairless gene causes a rare hair loss disorder.

The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.

A new syndrome may link skin, growth, mental, and hair issues.

Hair loss in Cronkhite-Canada syndrome may be caused by autoimmune factors, not just stress or malabsorption.

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.

Alopecia Areata Incognita causes widespread hair thinning, and treatment with systemic corticosteroids and psychiatric support can lead to remission.

The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.

Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.

Consider Werner syndrome in young patients with early aging signs and metabolic issues.

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

The Walleye dermal sarcoma virus cyclin causes excessive skin cell growth in mice.

A specific mutation in PA-PLA1α causes abnormal hair growth.