research Three orphans one should know: red scalp, red ear and red scrotum syndrome
The document concludes that early recognition and appropriate treatment of red scalp, red ear, and red scrotum syndromes can lead to remission.
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research Management of congenital ichthyoses: European guidelines of care, part two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Clinical Manifestations of Toxic Shock Syndrome
Toxic Shock Syndrome mainly affects menstruating women, can recur, and is linked to staph bacteria, with rapid treatment being crucial.
research Large Scale Gene Expression Profiles of Regenerating Inner Ear Sensory Epithelia
Birds can regenerate inner ear cells using specific gene pathways, unlike mammals.
research Hyperandrogenism in polycystic ovary syndrome and adrenal hyperplasia: finding differences to make a specific diagnosis
Differentiating PCOS from NCAH helps improve diagnosis and treatment.
research Hair tourniquet syndrome: Successful management with a painless technique
Hair removal cream effectively and painlessly treated infants with hair tourniquet syndrome.
research Cardiometabolic and neuroimaging correlates of cognitive function in polycystic ovary syndrome
Women with PCOS have altered brain structure and reduced cognitive performance.
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Uveodermatological syndrome in dogs: A review of diagnosis, management, and ophthalmic patient needs
Uveodermatological syndrome in dogs is hard to manage and can lead to blindness despite treatment.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Polysaccharide, Conjugate, and mRNA-based Vaccines are Immunogenic in Patients with Netherton Syndrome
Vaccines work well in Netherton syndrome patients, similar to healthy people.
research Diseases of the Ear Pinna
The document discusses various diseases of the outer ear, categorized by symptoms like redness, crusts, bumps, pus-filled lesions, lumps, ulcers, and hair loss.
research Rps14 upregulation promotes inner ear progenitor proliferation and hair cell regeneration in the neonatal mouse cochlea
Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
research Neural crest cells give rise to non-myogenic mesenchymal tissue in the adult murid ear pinna
Certain cells in the adult mouse ear come from cranial neural crest cells, but muscle and hair cells do not.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Farmácia Padrão da Légua, Custóias e nos Serviços Farmacêuticos da Klinicka Bolnica Dubrava, Croácia
Pharmacists play a crucial role in safe medication use and interdisciplinary collaboration is key to reducing antimicrobial resistance.
research NEW YORK DERMATOLOGICAL SOCIETY
The document discusses various challenging skin conditions and their treatments.
research Case 18-2018: A 45-Year-Old Woman with Hypertension, Fatigue, and Altered Mental Status
A woman with Cushing's syndrome improved after surgery to remove a tumor causing the condition.
research Skin disorders in diabetes mellitus
Diabetes can cause a variety of skin disorders, some of which may signal more serious health issues.
research Severe cutaneous adverse reactions to drugs
Some drugs can cause rare but potentially deadly skin reactions, and early treatment and avoiding the drug again are key.
research A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia among Women Presenting with Hyperandrogenic Symptoms and Signs
About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
research Scalp Dermoscopy or Trichoscopy
Trichoscopy is a quick, noninvasive method to diagnose hair and scalp disorders, often reducing the need for biopsies.