research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
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research Characteristics associated with significantly worse quality of life in mycosis fungoides/Sézary syndrome from the Prospective Cutaneous Lymphoma International Prognostic Index ( PROCLIPI ) study
People with mycosis fungoides/Sézary syndrome have a much lower quality of life.
research A polymorphism in the matrix metalloproteinase-1 gene promoter is associated with the presence of polycystic ovary syndrome in Caucasian women
A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
research Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research KC DUBE AWARD
Precision neuromodulation may improve schizophrenia symptoms.
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 Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Malabsorptive Disorders of Childhood
Early diagnosis of malabsorptive disorders in children is crucial to prevent long-term malnutrition.
research Acquired and inheritedhair disorders
Hair disorders can be genetic or acquired, affecting hair growth and loss differently.
research Evidence of a Causal Relationship Between Body Mass Index and Immune-Mediated and Inflammatory Skin Diseases and Biomarkers: A Mendelian Randomization Study
Higher BMI may increase the risk of psoriasis and some other skin diseases.
research Dermatological concerns for women and girls with turner syndrome
Early dermatological referrals are important for women and girls with Turner syndrome to improve life quality.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research PREVALENCE AND PREDICTORS OF METABOLIC SYNDROME IN WOMEN WITH POLYCYSTIC OVARIAN SYNDROME- A STUDY FROM SOUTHERN INDIA
More than half of the women with PCOS in Southern India had Metabolic Syndrome, with large waist circumference being the most common feature.
research Cutaneous Focal Mucinosis: A Case Report
A rare skin condition in children can look like other diseases.
research 376 Tsc2 disruption in mesenchymal progenitors regulates hair follicles and TGF beta signaling
Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
research Coda
Vitamin C deficiency harms both the body and brain, affecting behavior.
research Gynecologic and andrologic dermatology and the metabolic syndrome
Skin diseases linked to insulin resistance should be managed to prevent diabetes and reduce heart disease risk.
research NEW CHALLENGE TO CANCER AND LONGEVITY
A group has developed therapies that show promise for treating cancer and various other conditions.
research Cutaneous Signs of Malnutrition Secondary to Eating Disorders
Eating disorders can cause skin problems, which may help with early diagnosis and treatment.
research LBODP010 A Case of Glucocorticoid Resistance Syndrome
The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
research Trichoscopic Signs in Dermatomyositis, Systemic Lupus Erythematosus, and Systemic Sclerosis: A Comparative Study of 150 Patients
Trichoscopy can help diagnose and assess disease activity in connective tissue diseases by identifying specific hair and scalp signs.
research 51012 Clinical and pathophysiological study of seborrheic capitis: focus on brain-skin connection
Seborrheic dermatitis affects quality of life and sleep, linked to stress and nervous system changes.
research Cushing's syndrome in the elderly: data from the European Registry on Cushing's syndrome
Older patients with Cushing's syndrome often have different symptoms and treatment outcomes compared to younger patients.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research A 14-Year-Old Boy with Lower Extremity Swelling and Petechial Rash
The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
research THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research 3D spheroid culture synchronizes heterogeneous MSCs into an immunomodulatory phenotype with enhanced anti-inflammatory effects
3D spheroid culture makes stem cells better at reducing inflammation.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.