research Navigating Rhupus Complexity
Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
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450-480 / 1000+ results research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: a hair curling case report.
Early detection and treatment are crucial to prevent irreversible hair loss in Lichen Planopilaris.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Hidradenitis Suppurativa: update and review of therapeutic modalities
Various treatments can help manage hidradenitis suppurativa based on its severity.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Diagnosis of Trichothiodystrophy in 2 Siblings
Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
research Keratosis Follicularis Squamosa in Unilateral Buttock: A Case Report and Review of Literature in China
Unilateral keratosis follicularis squamosa may be a new subtype, successfully treated with asiaticoside ointment.
research Hidradenitis secondary to nirogacestat, a recently approved desmoid tumor medication
Nirogacestat can cause severe skin issues like hidradenitis suppurativa.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research Sterile matrix grafting for onycholysis in the setting of valproic acid use
Surgical grafting may fix nail issues caused by valproic acid.
research Treatment of localized scleroderma and lichen sclerosus with etretinate
Etretinate has only moderate effects on localized scleroderma and lichen sclerosus.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Characterizing Disease Features and Other Medical Diagnoses in Patients With Pityriasis Rubra Pilaris
PRP patients show varied symptoms and need more research to understand related conditions.
research The successful treatment of nephrogenic fibrosing dermopathy (NFD) with mycophenolate mofetil (MMF)
Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome
A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research Nail changes in patients with graft-versus-host disease
Patients with graft-versus-host disease often have nail changes related to the nail matrix, with severity not linked to skin condition.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Hidradenitis suppurativa: an-androgen-dependent disorder
Hidradenitis suppurativa improves with antiandrogen therapy.
research Ultraviolet-Enhanced Trichoscopy—A New Tool to Assess Pili Annulati
UV-enhanced trichoscopy helps diagnose hair shaft disorders like pili annulati.
research Traumatic Anserine Folliculosis: A Case Report
Avoiding friction and using topical treatments can significantly improve rough skin caused by repeated rubbing.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Lichen myxedematosus in a patient with hepatocellular carcinoma
Removing the liver tumor improved the patient's skin condition and hair growth.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Clouston syndrome associated with eccrine syringofibroadenoma
Clouston Syndrome can be linked to rare sweat gland tumors.
research Primary High‐Grade Ovarian Sertoli–Leydig Cell Tumor With Bilateral Adnexal Involvement in a Patient Diagnosed With Peutz–Jeghers Syndrome
Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.