research Recurrent pruritic polymorphic lesions associated with weight loss
A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.
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research Relationship between Illness Behavior and Hair Loss Pattern According to the Basic and Specific (BASP) Classification
The BASP classification helps predict patient behavior and improve treatment for hair loss.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
research Mucinosis folicular. Reporte de un caso pediátrico
Follicular mucinosis in a 15-year-old is usually harmless but needs monitoring for possible lymphoma.
research Dermatitis cruris pustulosa et atrophicans revisited: our experience with 37 patients in south India
DCPA is a chronic leg infection often related to Staphylococcus aureus, affecting mostly young men in India.
research TRICHOSTASIS SPINULOSA OR PINSELHAAR
Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Skin morphology of the mutant hairless USP mouse
Hairless USP mice have enlarged skin cysts as they age.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Alopecia Universalis Occurring after Alemtuzumab Treatment for Multiple Sclerosis. A Two-Year Follow-Up of Two Patients
Two patients developed complete hair loss after Alemtuzumab treatment for MS, with no regrowth after two years.
research Overnight loss of pigmented hair in autoimmune autonomic neuropathy treated with IVIg
IVIg treatment improved symptoms but caused permanent dark hair loss.
research Generating mouse models of degenerative diseases using Cre/lox-mediated in vivo mosaic cell ablation
The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Adult Onset Still Disease
High-dose corticosteroid treatment helped improve symptoms in a patient with Adult Onset Still Disease.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Comparative transcriptomic analysis of dermal wound healing reveals de novo skeletal muscle regeneration in Acomys cahirinus
The African spiny mouse can fully regenerate its muscle without scarring, unlike the common house mouse.
research The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients
Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.
research Alopecia areata with lymphocytic mural folliculitis affecting the isthmus in a thoroughbred mare
The horse had a rare type of hair loss caused by immune cells attacking hair follicles.
research [Expressions and effects of autophagy-related genes in bleomycin-induced skin fibrosis of mice].
Activating autophagy might reverse skin fibrosis.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research CLINICAL NUTRITION PROGRAM IMPROVES SENSORY LOSS IN A 60 YEAR OLD TRUCK DRIVER WITH ANTI-MAG NEUROPATHY
A clinical nutrition program improved sensory and motor function in a 60-year-old with anti-MAG neuropathy.
research Clinical Manifestations of Dermatomyositis
Most patients with dermatomyositis had skin rash, itching, and muscle weakness, treated mainly with prednisolone and hydroxychloroquine.
research Facial Papules Are Early Sign of Frontal Fibrosing Alopecia: A Cross-Sectional Study
Bumps on the face may be an early sign of a type of hair loss called frontal fibrosing alopecia.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Acquired pili torti--a structural hair shaft defect in anorexia nervosa.
Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.