research Unusual acute lupus hemophagocytic syndrome – a test of diagnostic criteria: a case report
The 2012 criteria are better for diagnosing atypical lupus cases.
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research Suety and Spreading-Stromal Hyperplasia and Hyperthecosis Ovary
These ovarian conditions cause high testosterone levels.
research Correlation between Scalp Hair Morphology, Haematological Parameters and Glycaemic Status in Individuals with Diabetes Mellitus
Diabetes can cause hair thinning, increased hair loss, and changes in hair growth phases.
research Vitiligo-like depigmentation with perifollicular pigment retention in systemic sclerosis treated successfully with suplatast tosilate
Suplatast tosilate successfully treated a woman's systemic sclerosis symptoms.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Anagen effluvium due to thallium poisoning derived from the intake of Chinese herbal medicine and rodenticide containing thallium salts
A woman and her daughter had thallium poisoning from a herbal drink and rodenticide, causing hair loss and other symptoms.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
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 Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research Isolated Amylase Deficiency as a Cause of Failure to Thrive
Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research SAT-LB82 Myxedema as Presenting Feature of Profound Primary Hypothyroidism in a Toddler
A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.
research Atopic diseases and the risk of alopecia areata among pre-teens and teenagers in Taiwan
Children with atopic diseases have a higher risk of developing alopecia areata.
research 44179 Characterization of subclinical atherosclerosis in chronic severe alopecia areata.
Severe alopecia areata may increase the risk of hidden artery disease.
research Trichoscopic findings in alopecia areata and their relation to disease activity, severity and clinical subtype in T urkish patients
Certain scalp patterns can indicate the severity and activity of hair loss in Turkish alopecia patients.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Case Report: 8 years old boy with neurofibromatosis type one and Alopecia from KING ABDULAZIZ MEDICAL CITY OF THE NATIONAL GUARD. Saudi Arabia
An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
research Συχνότητα και μελέτη του δασυτριχισμού στον ελληνικό πληθυσμό
Hirsutism is relatively common among young Greek women.
research Unusual dermoscopic features in a patient with alopecia areata
Alopecia areata can show unusual red-dotted vessels and dithranol treatment may mask typical patterns.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Tumid Lupus Erythematosus and Systemic Lupus Erythematosus: A Report on Their Rare Coexistence
A woman with both TLE and SLE improved with hydroxychloroquine treatment.
research Association of androgenetic alopecia with metabolic syndrome: A case–control study on 100 patients in a tertiary care hospital in South India
Androgenetic alopecia is significantly linked to metabolic syndrome.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Case of thallium intoxication
Thallium poisoning can be treated successfully with the right antidote.
research Fetal Arrhythmia with a Myriad of Complications
Early diagnosis and management of congenital heart block in mothers with autoimmune conditions are crucial for improving neonatal outcomes.
research Turner's syndrome associated with psoriasis and alopecia areata
Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.