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

A man developed a rare skin condition after a hair transplant surgery.

A new genetic mutation was found causing hair and eye issues in a boy.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

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

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.

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

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

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

A teenager had both alopecia areata and vitiligo, which are rare to occur together.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.

Consider infectious diseases like visceral leishmaniasis before diagnosing autoimmune hepatitis.

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

A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.

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

Satoyoshi syndrome is likely an autoimmune disease that mainly affects young women and improves with immune-related treatments.

Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.

A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.

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.

Follicular vitiligo causes hair to gray without skin color loss.

A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.

Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

Early treatment with immunoglobulin and aspirin reduces heart complications in children with Kawasaki disease.

Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.

CARASIL can cause different symptoms even with the same genetic mutation.