research The Case Files
A 65-year-old man with sudden abdominal pain and seizures was diagnosed with a rare, non-traumatic splenic rupture and treated without surgery.
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630-660 / 1000+ results research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Resolution of pseudoainhum with acitretin therapy in a patient with palmoplantar keratoderma and congenital alopecia
Acitretin helped improve hand mobility and skin condition in a patient.
research Circumferential acute limited exanthematous pustulosis
A 16-year-old girl's skin rash was likely caused by an infection and improved with topical steroids.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research An Unusual Presentation of Mucous Membrane Pemphigoid
Treatment with prednisolone and dapsone stopped new blisters and partially healed previous ones.
research The clinical spectrum of parathyroid disease
The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.
research PPAR-γ Agonists and Their Role in Primary Cicatricial Alopecia
PPAR-γ helps control skin oil glands and inflammation, and its disruption can cause hair loss diseases.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Post-Finasteride Syndrome: An Induced Delusional Disorder with the Potential of a Mass Psychogenic Illness?
PFS might be a delusional disorder with potential to become mass psychogenic illness.
research Facial Psoriasis Log-based Area and Severity Index: A valid and reliable severity measurement method detecting improvement of facial psoriasis in clinical practice settings
The Facial Psoriasis Log-based Area and Severity Index is a more effective way to measure improvements in facial psoriasis than the traditional method.
research Erosive pustular dermatosis of the scalp: A case report
Timely treatment of EPDS can reduce scarring.
research Effectiveness and safety of finasteride in male chronic pelvic pain syndrome
Finasteride effectively reduces symptoms of male chronic pelvic pain syndrome with few side effects.
research Parietal scalp is another affected area in female pattern hair loss: an analysis of hair density and hair diameter
Parietal scalp area has lower hair density and smaller hair diameter in women with hair loss.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Acquired progressive kinking of the hair following COVID‐19 disease
COVID-19 can cause hair to become progressively kinked.
research Lupus Pneumonitis Masquerading as Pulmonary Tuberculosis–A Case Study
Lupus pneumonitis can mimic tuberculosis and should be considered in diagnoses.
research Supplementary material from "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair"
Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
research Regenerative Capacity of Adipose Derived Stem Cells (ADSCs), Comparison with Mesenchymal Stem Cells (MSCs)
Adipose-derived stem cells are promising for regenerative medicine due to their accessibility, versatility, and low risk of immune rejection.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research Pollen Allergies in Humans and their Dogs, Cats and Horses: Differences and Similarities
Humans and pets share similar allergy mechanisms, and studying pet allergies can help treat both human and animal allergies.
research Epidermal mammalian target of rapamycin complex 2 controls lipid synthesis and filaggrin processing in epidermal barrier formation
mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
research Association Between Interleukin 18 Polymorphisms and Alopecia Areata in Koreans
Certain genetic variations in IL18 may increase the risk of alopecia areata in Koreans.
research Evidence-based consensus on the clinical application of photobiomodulation
Photobiomodulation is safe and effective for treating certain conditions like nerve pain and hair loss.
research Synaptic‐like vesicles and candidate transduction channels in mechanosensory terminals
SLVs help maintain muscle stretch sensitivity and could aid in treating hypertension and muscle spasticity.