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Sebaceous glands are often preserved and PPARy expression is constant in some cases of Central Centrifugal Cicatricial Alopecia.

Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.

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

A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.

Pseudopelade is a rare inherited hair loss condition with a genetic cause.

A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.

A 4-year-old girl with a rare lupus condition was successfully treated with oral corticosteroids, leading to full recovery and hair regrowth.

Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.

Loose Anagen Syndrome is more common in females and may be inherited, often confused with other hair disorders, and lacks evidence for biotin treatment effectiveness.

Danon disease can be hard to diagnose due to non-specific symptoms.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

Brunsting-Perry pemphigoid can cause scarring hair loss and may be underdiagnosed.

Genes linked to fibrosis are more active in people with central centrifugal cicatricial alopecia.

SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.

Accurate diagnosis of granular parakeratosis is crucial for effective treatment and improvement.

Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

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

A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

AGA patients have higher heart disease risk.

Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.

A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.