research Progeroide Syndrome
Genetic mutations affecting DNA repair cause early aging symptoms in progeroid syndromes.
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420-450 / 1000+ resultsresearch Renal Carcinoma Presenting with Adrenocortical Insufficiency Due to a Pituitary Metastasis
A man's adrenal insufficiency was caused by a pituitary tumor linked to kidney cancer.
research Prevalence of Metabolic Syndrome and Cardiovascular Risk Factors in Early Onset Male Androgenetic Alopecia - A Cross Sectional Study in a Tertiary Care Hospital
Early-onset male hair loss may be linked to higher cardiovascular risk.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report
A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
research Cutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke
Recognizing CVG can help diagnose systemic amyloidosis early.
research Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
A new syndrome may link skin, growth, mental, and hair issues.
research S3301 Abnormal Liver Enzymes in Thymoma-Associated Multiorgan Autoimmunity
Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
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 Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research A 32‐year‐old woman with arthralgias and severe hypotension
Aggressive immunosuppressive treatment improved a woman's severe heart condition linked to autoimmune disease.
research Conditions simulating androgenetic alopecia
Different hair loss types need accurate diagnosis for proper treatment.
research GASTROINTESTINAL TUBERCULOSIS PRESENTING AS INTESTINAL OBSTRUCTION IN A 16-YEAR-OLD FILIPINO WITH PEDIATRIC SYSTEMIC LUPUS ERYTHEMATOSUS
Early recognition and management of gastrointestinal tuberculosis in lupus patients are crucial to prevent complications.
research Short Anagen Syndrome
Short anagen syndrome causes short hair that may grow longer after puberty.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research Bilateral ovarian steroid cell tumor in a postmenopausal woman with progressive hyperandrogenism
Surgery removed ovarian tumors, normalizing testosterone and improving symptoms.
research Spectrum of Dermatological Disorders in Patients of Metabolic Syndrome
Patients with metabolic syndrome often have skin problems like acanthosis nigricans and skin tags, and early treatment is important to prevent serious issues.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Viral-Associated Trichodysplasia of Immunosuppression
A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
research Clinical masks of celiac disease in children: examples from practice
Early diagnosis of celiac disease in children is crucial for effective treatment.
research 130 Dermal IgA deposition targeted against Transglutaminase 3 in Dermatitis herpetiformis risk groups
Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
research Gastric Trichobezoar in a 2‐Year‐Old Girl With Severe Malnutrition and Social Risk: A Case Report
Gastric trichobezoar in young children requires surgery and comprehensive care to prevent serious complications.
research Early onset androgenic alopecia in males, a marker for metabolic syndrome? A case control study
Early hair loss in young men is linked to higher risk of metabolic syndrome.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research Hidradenitis suppurativa secondary to treatment with a gamma secretase inhibitor
A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.