research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
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870-900 / 1000+ resultsresearch Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient
Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
research Erosive Pustular Dermatosis of the Scalp
Erosive pustular dermatosis of the scalp is a rare condition that causes scarring hair loss, mainly in older women, and requires ongoing treatment.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Hair Loss Profiles and Ritlecitinib Efficacy in Patients with Alopecia Areata: Post Hoc Analysis of the ALLEGRO Phase 2b/3 Study
Ritlecitinib effectively improves hair growth in alopecia areata patients, regardless of hair loss pattern.
research Naevus Comedonicus Syndrome Complicated by Hidradenitis Suppurativa-like Lesions Responding to Acitretin Treatment
Acitretin significantly reduced inflammatory attacks in a woman with Naevus Comedonicus Syndrome but caused side effects.
research Retinoid-mediated stimulation of steroid sulfatase activity in myeloid leukemic cell lines requires RARα and RXR and involves the phosphoinositide 3-kinase and ERK-MAP kinase pathways
Retinoids increase steroid sulfatase activity in leukemia cells through RARα/RXR and involves certain pathways like phosphoinositide 3-kinase and ERK-MAP kinase.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research P44 An acutely unwell and rare presentation of systemic lupus erythematosus; a case report
Early recognition and treatment of SLE can improve outcomes in patients with complex symptoms.
research Renbök Phenomenon in a Patient With Alopecia Areata Universalis
Psoriasis can cause hair growth in areas affected by alopecia areata.
research Painted Butterfly Rash: The Red Queen Effect in a Rembrandt Portrait
The painting may show signs of lupus, like a butterfly-shaped rash.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Generalized Congenital Hypotrichosis in a Female Rottweiler
A female Rottweiler had a rare genetic condition causing mostly hairless skin.
research Case of Cronkhite Canada Syndrome - A Non-Inherited Gastrointestinal Polyposis Syndrome
A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
research Correspondence
RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
research Granulation Tissue that Developed after a Minor Trauma in a Psoriatic Patient on Long-term Etretinate Therapy
Long-term etretinate use may cause delayed wound healing and extra tissue growth after injury.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Adrenal and Gonadal Activity, Androgen Concentrations, and Adult Height Outcomes in Boys With Silver-Russell Syndrome
Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.
research Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
research Eruptive vellus hair cyst syndrome or exuberant atypical keratosis pilaris?
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Multiomics Analysis of the Response to Ritlecitinib in Alopecia Areata Subtypes and Correlation With Efficacy
Ritlecitinib helps reduce inflammation and promote hair regrowth in alopecia areata, especially in patchy-type cases.
research Expression of retinoid-X receptors (-Æ,-a,-a) and retinoic acid receptors (-Æ,-a,-a) in normal human skin: an immunohistological evaluation
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
research Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.