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A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.

A new gene mutation causes insulin resistance in a girl and her mother.

Inflammation may cause nail issues in Cronkhite–Canada Syndrome.

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

A woman with lupus and severe nerve damage improved with specific treatments.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

Early diagnosis, intensive therapy, and careful follow-up are crucial for managing overlapping TTP and SLE.

Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.

A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.

Imatinib can cause hair loss due to lichen planopilaris.

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

Early recognition and a multidisciplinary approach are crucial for effectively managing complex autoimmune conditions like SLE with CAPS and AHA.

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.

Ulcerative sarcoidosis in body folds is rare and improved with prednisone and hydroxychloroquine.

A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.

Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.

A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.

The hair disorder was caused by abnormal protein formation, making hair easily damaged.

Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.

Some patients with a type of skin lymphoma can experience a rare, non-scarring hair loss that looks like another hair loss condition but has distinct features.

A COVID-19 patient with severe hair loss did not improve with hair loss medication after stopping and restarting it due to the infection.

People with Behçet's disease can develop life-threatening lung artery aneurysms that may require surgery.

Digital access to medical info can help identify rare conditions.

First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.