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A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.

CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.

Lichen planopilaris can occur with multiple autoimmune diseases.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

The LMNA mutation affects skin structure even in asymptomatic carriers.

An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.

A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.

ECCL should be considered in patients with specific skin and eye lesions.

Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.

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

Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.

A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.

Suppressing the HGPS mutation may improve symptoms and suggest reversibility.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.

The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.

The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.

A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.

Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.

The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.