Search

everythingexperts & clinicslearnresearchcommunity

for

Search:↓

Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.

A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.

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

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

A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.

A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

Woman has discoid lupus, frontal fibrosing, and androgenetic alopecia.

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

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

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

A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.

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

Satoyoshi syndrome can occur without causing premature ovarian failure.

A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.

Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.

Scalp disease in dermatomyositis causes significant symptoms and has unique features.

A 10-year-old boy's nail condition is mainly cosmetic and improves over time with treatment.

A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.

Lack of certain fatty acids causes skin, immune, and fertility issues in mice.

Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.

ODC overexpression in hair cells increases tumor growth by reducing Notch signaling.

Trichothiodystrophy hair is structurally abnormal with protein and organization issues.

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

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

A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.