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

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

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

Two patients with Cronkhite-Canada syndrome achieved remission after treatment.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.

Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.

A potential genetic link between Werner syndrome and kidney disease was suggested.

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

Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.

Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.

Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.

Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.

A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

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

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

An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.

The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.

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

A man with KID syndrome developed a rare cancer in a long-term skin infection.

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.