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A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

Clouston Syndrome can be linked to rare sweat gland tumors.

Trichotillomania is a chronic hair-pulling disorder, more common in females, treated with therapy and sometimes medication.

An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.

Two siblings have a rare genetic condition causing curly, coarse hair.

Uncombable hair syndrome is linked to Zellweger syndrome.

A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.

Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.

The study concludes that Traction Alopecia is often overlooked in women and children of color, and better recognition and follow-up care are needed.

Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

A specific gene mutation causes varying hair loss severity in a Pakistani family.

Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.

A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.

A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.

Tofacitinib significantly improved symptoms in a patient with overlapping autoimmune disorders.

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

TAF4 is important for skin cell growth and helps prevent skin cancer in mice.

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

The boy's symptoms suggest a possible new medical condition.

Trichoscopy can diagnose Netherton syndrome without pulling hairs.

A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.

GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.

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

Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.

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

Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.