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A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

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

Muse cells from human bone marrow help reduce symptoms of atopic dermatitis in mice.

DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.

Hair-related body dysmorphic disorder is common in hair loss patients and needs early recognition for proper treatment.

Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.

The boy's symptoms suggest a possible new medical condition.

DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.

Panniculitis in dermatomyositis is rare, more common in women, and may persist despite treatment.

New mutations in the DSG4 gene cause a rare hair condition.

Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.

A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.

A comprehensive approach to educating patients and managing side effects is crucial for improving adherence to multiple sclerosis treatments and patient quality of life.

Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.

The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.

People with Down syndrome often have skin issues and need regular check-ups for early treatment.

Lower illness acceptance is linked to more body dysmorphic disorder symptoms in patients with body modifications.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

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

Most patients with dermatomyositis had skin rash and were treated with prednisolone and hydroxychloroquine.

The term "low-risk" in myelodysplastic syndrome is misleading and should be changed to better reflect patient experiences and needs.

Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.

Cladribine has known risks and potential new safety concerns, requiring careful monitoring.

A woman with dermatomyositis improved after treatment for neck panniculitis, suggesting similar treatment for related conditions.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.

A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.

Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.

Early treatment of mixed connective tissue disease is crucial to prevent severe autoimmune conditions.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.