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A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

A 2-year-old girl had a hair disorder not shared by her identical twin.

A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.

Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.

Monilethrix causes short, fragile hair with no specific treatment available.

Nail abnormalities in children can indicate deeper health issues.

A specific gene mutation causes congenital hair loss.

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

A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.

Mutations in the LIPH gene cause woolly hair in a child.

Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.

A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.

Nephronectin is linked to worse outcomes in breast cancer and helps cancer spread.

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

A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.

An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.

Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.

Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.

A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.

Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

Defective protein folding due to a mutation is key in ANE syndrome.

The LMNA mutation affects skin structure even in asymptomatic carriers.