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A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

Popliteal Artery Entrapment Syndrome (PAES) is a rare but possible cause of leg pain during walking, even in untrained women.

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

Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.

A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.

Clouston syndrome can lead to skin cancer, so monitoring is crucial.

Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.

Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.

A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.

A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.

Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.

A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.

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

Lichen planopilaris can occur with multiple autoimmune diseases.

The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

Loss of Msx2 function causes eye development issues similar to Peters anomaly.

Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.

The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.

Mutations in the KLHL24 gene cause a skin disorder in some Russian families.

A rare skin condition in a boy is likely due to a specific genetic mutation pattern.

Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.

A specific gene mutation causes Olmsted syndrome.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.