Search

everythinglearnresearchcommunity

for

Search:↓

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

Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.

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

The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.

A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.

A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.

Systemic lupus erythematosus is an autoimmune disease causing diverse symptoms and major organ involvement.

Hair examination helps diagnose rare neurological diseases in children.

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

Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.

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

A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.

Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.

Loss of a specific protein in skin cells causes symptoms similar to psoriasis.

Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.

A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.

Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.

A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.

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

Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.

A new DSG4 gene mutation causes hair defects in a young girl.

Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.

Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.

Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.

An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.

IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.