research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
Search
for
Sort by
Research
810-840 / 1000+ results 
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Immunologic and Autoimmune-Related Sequelae of Severe Acute Respiratory Syndrome Coronavirus 2 Infection
research Evaluating purified exosome product and its role in neurologic and functional recovery following spinal cord injury in female rats
IT PEP may help recovery after spinal cord injury, but more research is needed.
research Chronological clinicopathological characterization of rapidly progressive alopecia areata resistant to multiple i.v. corticosteroid pulse therapies: An implication for improving the efficacy
Current corticosteroid pulse therapy is not very effective for severe rapidly progressive alopecia areata.
research Rapid hair depigmentation in patient treated with pazopanib
Pazopanib treatment caused rapid hair color loss, possibly indicating its effectiveness.
research Prevalence of cervical insufficiency in polycystic ovarian syndrome
Women with polycystic ovarian syndrome are more likely to have cervical insufficiency, especially South Asian and Black women.
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 Coexistence of alopecia areata and fixed drug eruption: An uncommon isotopic phenomenon?
A rare skin reaction occurred when a man took paracetamol, causing a new rash in an area already affected by hair loss.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Comment on “The post-finasteride syndrome: possible etiological mechanisms and symptoms”
Some men experience persistent sexual, neurological, and psychological symptoms after stopping finasteride, but evidence of permanent damage is inconclusive.
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 A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study
Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
research The Role of Heat Shock Proteins in the Pathogenesis of Polycystic Ovarian Syndrome: A Review of the Literature
Heat Shock Proteins are important in the development of Polycystic Ovarian Syndrome and could be targets for new treatments.
research 567 Acute generalized exanthematous pustulosis (AGEP) induced by plaquenil
Plaquenil can cause a severe skin reaction called AGEP, requiring prompt diagnosis and treatment.
research Polycystic ovary syndrome and mental health: a call to action
PCOS significantly affects women's mental health, and more research is needed to develop effective treatments for these issues.
research Etoricoxib
A man had a rare skin reaction from a hair loss medication, which improved after stopping the drug.
research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat
A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Acute parenchymal lung involvement in a 68-year-old woman with systemic lupus erythematosus, anemia, and thrombocytopenia
A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
research Pendekatan Diagnosis Ensefalomielitis Diseminata Akut
ADEM is a sudden brain disorder often following infection or vaccination, diagnosed by ruling out other conditions.
research SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor
A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
research Hair Tourniquet Syndrome, A missed diagnosis: Review of Literature
Doctors often miss Hair Tourniquet Syndrome, which can lead to serious damage if not treated quickly.
research Dermatological burden in polycystic ovary syndrome: Correlation of cutaneous manifestations with hormonal profile and quality of life in a hospital based cohort
Skin issues in PCOS worsen quality of life and are linked to hormonal imbalances.
research The Case Files
Thyroid storm is hard to diagnose due to vague symptoms but needs urgent attention.
research Renbök Phenomenon and Contact Sensitization in a Patient With Alopecia Universalis
Psoriasis or contact dermatitis can override alopecia areata, allowing hair growth.
research Can we identify a post‐Serenoa syndrome (PSS)? A case series on sexual and psychiatric side effects of Serenoa repens
Serenoa repens may cause long-lasting sexual and psychiatric side effects.