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

Hair examination helps diagnose rare neurological diseases in children.

Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.

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

A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.

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

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.

An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.

A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.

Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.

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.

The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.

The document reports a rare case of ECCL with a new association with optic disc colobomas.

A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.

Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.

Cantú syndrome may be linked to pituitary adenomas.

Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.

Ganser syndrome may result from both organic and psychogenic factors.

Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.

Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.

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.