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

A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.

Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.

The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.

Cantú syndrome is caused by mutations in the ABCC9 gene.

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

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

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

A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.

Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.

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

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.

A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.

A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.

Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.

A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.

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

Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.

The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.

Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.

Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.

Four children had unmanageable pale blond hair due to uncombable-hair syndrome.

Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.

Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.

Two siblings have a rare hair condition caused by a new genetic variant.

A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.

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

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

Steroids, infection management, and nutritional support can significantly improve symptoms of Cronkhite-Canada Syndrome.