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

Sirolimus effectively reduces lesions and improves quality of life in Blue Rubber Bleb Nevus Syndrome with manageable side effects.

Neonatal lupus symptoms usually resolve, but some children may develop other autoimmune diseases later.

Undiagnosed lupus can cause severe complications after epidural anesthesia, leading to muscle weakness and potentially death.

A woman with both TLE and SLE improved with hydroxychloroquine 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.

An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.

The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

Two patients with Cronkhite-Canada syndrome achieved remission after treatment.

A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

Netherton's disease causes multiple hair defects.

A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.

ZNF750 and MPZL3 are important in causing seborrheic dermatitis.

A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.

Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.

Becker's Melanosis and Hypertrichosis mainly affects young males, causing brown skin patches and extra hair on one side of the upper body.

The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.

Alisertib was found to be an effective and tolerable treatment for children with recurrent brain tumors.

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

Fahr syndrome causes brain calcification and is managed by treating symptoms and underlying issues.

A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.

Recognizing rare tumor combinations is crucial for accurate diagnosis and treatment.

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

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

Doctors should consider comedonic discoid lupus erythematosus to avoid misdiagnosis.

Chinese patients with systemic lupus erythematosus commonly experience oral ulcers, arthritis, alopecia, skin rash, and nephritis.

SLE patients in eastern Saudi Arabia have a generally good prognosis despite multi-organ involvement.