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

Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.

A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.

The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.

The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.

PAON shows skin patterns due to genetic mosaicism.

The boy's hair and skin color differences are due to a pigmentation disorder.

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.

A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.

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

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

Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.

Uncombable hair syndrome is linked to Zellweger syndrome.

IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.

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

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

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

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

A new syndrome may link skin, growth, mental, and hair issues.

The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

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

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

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

A young man was diagnosed with a rare hair loss condition usually seen in older women.