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Macrophage activation syndrome can be a deadly first sign of systemic lupus erythematosus.

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.

A rare scalp condition can occur due to leukemia affecting the skin.

Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.

Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

A woman with anorexia improved significantly after being treated for scurvy with vitamin C, despite not showing typical scurvy symptoms.

Skin can produce blood cells, often due to disease, which might lead to new treatments for skin and blood conditions.

NXC736 significantly reduced hair loss in mice with alopecia areata.

Androgenetic alopecia is a long-term, immune-related disorder that starts during puberty due to androgen secretion, and it might be improved with iron tablets, platelet transfusion, and anti-inflammation therapy.

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

A specific gene mutation causes severe skin and nail issues and hair loss.

Systemic lupus erythematosus is an autoimmune disease causing diverse symptoms and major organ involvement.

CCCA causes progressive hair loss in Black women, starting from a central scalp patch.

Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.

Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.

Early diagnosis and treatment of systemic-onset juvenile idiopathic arthritis are crucial for improvement.

A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

CD19-CAR T cell therapy may help regenerate skin in systemic sclerosis.

Selenium deficiency caused symptoms in a child, which improved with selenium supplements.

Iron-deficiency anemia in pregnancy can cause serious health issues for both mother and baby.

Children need early diagnosis and treatment for iron-deficiency anemia to prevent learning problems and promote health.

Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.