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A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

A 14-year-old girl with a condition that makes her hair easy to pull out also has a hair-pulling disorder, and treatment helped but she relapsed after a year.

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.

A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.

Anti-phospholipid antibodies in SLE can cause thrombosis and bone necrosis.

Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.

An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.

Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.

Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.

Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

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 rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.

Minoxidil use can cause trichostasis spinulosa in long-term hair loss patients.

Neuromyotonia and morphoea can occur together in the same body areas.

Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.

A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.

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

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

A rare genetic mutation causes severe immune issues, hair loss, and nail problems.

Temporal triangular alopecia is a non-scarring hair loss seen in some Asian children.

Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.

A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.

Antituberculous drugs improved symptoms in a woman with lupus and myositis.

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.

Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.