research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
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810-840 / 1000+ resultsresearch SAT-213 Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
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 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 Classic Sweet sydrome: A case report
A 54-year-old man with painful skin blisters and fever was diagnosed with Sweet syndrome and successfully treated with corticosteroids.
research A Silvery Hair Revolution: Case Report of Marie Antoinette Syndrome in a Child
Stress may cause sudden hair whitening in children.
research Telogen Effluvium
Telogen effluvium is a type of hair loss that happens when stress or illness causes many hairs to enter the resting phase and fall out.
research Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr's syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Toward a Diagnostic Score in Cushing's Syndrome
The document suggests creating a validated score to diagnose Cushing's Syndrome and considers plasma steroid profiling as a simpler diagnostic method.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research POLYCYSTIC OVARY SYNDROME: DIVERSE CLINICAL PRESENTATIONS ACROSS ADOLESCENCE, REPRODUCTIVE AGE, AND MENOPAUSE
PCOS symptoms vary by age, affecting diagnosis and treatment.
research Clinical and endocrine characteristics of the main polycystic ovary syndrome phenotypes
Different types of polycystic ovary syndrome (PCOS) have varying severity, with Type I being the most severe and common.
research Brandt Syndrome
Brandt syndrome, with symptoms like skin rash, hair loss, and diarrhea, improves quickly with zinc supplements.
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 On the characterization of the effluvium following COVID ‐19 infection
Many people experience hair loss after COVID-19 infection.
research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
research 54767 Involvement of Calcinosis Cutis in Autoimmune Connective Tissue Diseases
Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
research Uncombable hair syndrome: A case presentation
Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
research Paradoxical Effect After IPL Photoepilation
IPL can cause unexpected hair growth in nearby untreated areas.
research Advances in the Study of Small Cell Lung Cancer and Metabolic Syndrome
Metabolic syndrome may increase the risk of small cell lung cancer.
research PSS20 MEDIATION MODELING AND MEASUREMENT CHARACTERISTICS OF THE ITCH SEVERITY SCORE FROM A PHASE 2B TRIAL OF ORAL CP-690-550 IN PATIENTS WITH MODERATE TO-SEVERE PLAQUE PSORIASIS
CP-690,550 significantly reduced itching in patients with moderate-to-severe plaque psoriasis.
research Bilateral Xen is Used as Minimally Invasive Glaucoma Surgery for Glaucoma in GAPO Syndrome: Case Report
Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
research Efluvio telógeno
Telogen effluvium causes sudden hair loss, often due to stress or changes, and is treated by addressing the cause and offering support.
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 The SAHA Syndrome
SAHA syndrome is a condition in women involving skin and hair issues, often related to hormonal imbalances, and is treated based on the underlying cause.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia
People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
research Post-SSRI sexual dysfunction & other enduring sexual dysfunctions
SSRI antidepressants can cause long-lasting sexual problems.