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A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.

Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.

The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.

A 27-year-old with APS-1 showed improvement in symptoms after treatment.

Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.

A female Rottweiler had a rare genetic condition causing mostly hairless skin.

A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

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.

A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.

Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.

Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.

A baby with KID syndrome died from infections and organ failure at 18 months old.

Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.

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

New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.

A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.

Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.

A rare EGFR mutation in newborns leads to severe health issues and early death.

Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.

Careful diagnosis and management of MCTD are crucial due to potential severe complications.

An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.

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

Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.