research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
Search
for
Sort by
Research
660-690 / 1000+ resultsresearch Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
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.
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research P44 An acutely unwell and rare presentation of systemic lupus erythematosus; a case report
Early recognition and treatment of SLE can improve outcomes in patients with complex symptoms.
research Hair Loss and Polyposis in Cronkhite-Canada Syndrome
Prednisone treatment helped a woman with Cronkhite-Canada syndrome recover from hair loss and digestive issues.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research SAT-148 Late Diagnosis of Klinefelter Syndrome: Overcoming Phenotypic Variability and Diagnostic Oversights
Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Polycystic Ovarian Syndrome- Revisited
PCOS is a complex condition that affects women's hormonal balance and metabolism, requiring lifestyle changes and medical management.
research Polycystic Ovarian Syndrome - A Pain for Young Women? An Autobiographical Case Studies
Early diagnosis and treatment of PCOS can prevent complications and improve symptoms.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research miR-761-hepcidin/Gpx4 pathway contribute to unexplained liver dysfunction in polycystic ovary syndrome by regulating liver iron overload and ferroptosis
Liver damage in PCOS is linked to iron overload and cell death due to the miR-761-hepcidin/GPX4 pathway.
research Steroid Responsive Mononeuritis Multiplex in the Cronkhite–Canada Syndrome
Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD
A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
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 DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Toxic shock syndrome: Recent developments in pathogenesis
Toxic shock syndrome is caused by a complex interaction of bacterial toxins and the immune system, and understanding this can help improve diagnosis and treatment.
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 Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research G588(P) Transient renal and hepatic dysfunction in severe profound hypothyroidism
Severe hypothyroidism can cause temporary liver and kidney issues, which improve with thyroxine treatment.