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A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.

Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.

The infant with a urea cycle disorder improved with treatment and a liver transplant.

A rare genetic mutation causes severe immune issues, hair loss, and nail problems.

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

The 2012 criteria are better for diagnosing atypical lupus cases.

Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

Vitamin C supplementation can resolve pulmonary arterial hypertension caused by vitamin C deficiency.

The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.

The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.

A 38-year-old African American woman has a rare condition that prevents her from growing long hair.

High-dose IV iron is safe and effective for treating anaemia in IBD patients.

Two siblings had a rare hair condition with banded hair, which doesn't need treatment.

Leukemia can sometimes appear as unusual skin issues in children.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Early detection and treatment of iron deficiency in pregnancy are crucial for maternal and infant health.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A 16-year-old girl with lupus symptoms improved with treatment despite negative ANA tests.

Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

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

A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.

The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.

Iron deficiency can cause hair abnormalities, but taking iron can fix them and stop hair loss.

Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.

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

A dog in France died from an African parasite infection after traveling from Senegal.