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.
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30-60 / 1000+ resultsresearch Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research Assessment of metabolic syndrome in patients diagnosed with melasma in a dermatology service
Many women with melasma also have metabolic syndrome.
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 Dermal Mucinosis in the Eosinophilia-Myalgia Syndrome
A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
research Chronic sphenoid sinusitis masquerading itself as migraine - a clinical case
research Multibacillary leprosy with positive serology misdiagnosed as systemic lupus erythematosus
A woman was wrongly diagnosed with lupus but actually had leprosy.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Metabolic syndrome and metabolic risk profile according to polycystic ovary syndrome phenotype
Women with severe types of PCOS are more likely to have metabolic syndrome, and belly fat is a key predictor of this risk.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Clinico-investigative profile of patients of hirsutism in a tertiary level institution
Most hirsutism patients had idiopathic hirsutism or PCOS, with hormonal imbalances and signs like acne and irregular periods.
research Characterization of metabolic changes in the phenotypes of women with polycystic ovary syndrome in a large Mediterranean population from Sicily
Women with PCOS in Sicily show different levels of metabolic problems depending on their PCOS type, with obesity and abnormal lipid profiles being common.
research Clinical profile of 50 premenopausal women with hirsutism
Most women with hirsutism have mild symptoms and often experience acne, menstrual irregularities, and obesity.
research Defining hirsutism in Chinese women: a cross-sectional study
An mFG score of 5 or more indicates above-normal hair growth in Southern Chinese women.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research A survey study to assess prevalence rate of premature grey hair in school-going children aged between 5 to 15 years
Premature greying is common in children, especially ages 11-15, and homoeopathy might help.
research Pediatrics alopecia treated with homoeopathy: A case report
Homeopathy helped an 8-year-old girl regrow her hair in 4 months.
research Association between metabolic syndrome and prevalent skin diseases: A systematic review and meta‐analysis of case‐control studies
People with certain skin conditions, especially androgenic alopecia, are more likely to have metabolic syndrome.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Metabolic Syndrome Prevalence in Psoriasis
People with psoriasis are more likely to have Metabolic Syndrome than those without psoriasis.
research LP-161 Tjalma syndrome (Pseudo-Pseudo Meigs Syndrome): polyserositis with increased CA-125 in patients with systemic lupus erythematosus
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
research 015 Hypopigmented Mycosis Fungoides Progressing to Systemic Involvement- A Case Report and Review of Literature
A 73-year-old woman with Hypopigmented Mycosis Fungoides, a rare skin lymphoma, experienced disease progression despite treatment, emphasizing the need for ongoing monitoring.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Philological Obfuscation
The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.