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

An 8-year-old boy recovered from a rare case of penile tourniquet syndrome after hair removal surgery.

DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.

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

Early dermatological referrals are important for women and girls with Turner syndrome to improve life quality.

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

Topical minoxidil can help improve hair in trichonodosis.

A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.

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

Becker's Melanosis and Hypertrichosis mainly affects young males, causing brown skin patches and extra hair on one side of the upper body.

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

Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.

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

Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.

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

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.

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

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

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.

Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.

A baby's toe was saved from serious damage by quickly removing a hair wrapped tightly around it.

Hairy elbows may be linked to short stature, but the exact cause is unclear.