research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
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840-870 / 1000+ resultsresearch Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
research Monilethrix: the use of tricoscopy in clinical diagnosis
Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
research Follicular mucinosis in association with Sezary syndrome
A patient with Sézary syndrome showed improvement after treatment and the study suggested follicular mucinosis might indicate future lymphoma risk.
research Alopecia areata. How not to miss S atoyoshi syndrome?
Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research GWASs Identify Genetic Loci Associated with Human Scalp Hair Whorl Direction
Certain genes influence the direction of hair whorls on the scalp.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research A case of eruptive lichen spinulosus after toxic epidermal necrolysis
A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
research Skin Manifestations in Primary Immunodeficient Children
Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.
research Nonsynchronized segmented heterochromia in black scalp hair
A 14-year-old girl's black hair showed unique color changes, suggesting early greying.
research [Sodium valproate-induced kinky hair].
A medication called sodium valproate likely caused a girl's hair to become kinky and dry.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Overlooked non-motor symptoms in myasthenia gravis
Non-motor symptoms in myasthenia gravis are common and need early diagnosis for better management.
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 Comparison of clinical characteristics among different time of disease onset in patients with systemic lupus erythematosus patients
Juvenile-onset lupus patients have more severe symptoms and need stronger treatment.
research 489 Seborrhea-like dermatitis phenotype in the Mpzl3 knockout mice
MPZL3 is crucial for seborrheic dermatitis development.
research SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
research Severe lupus vasculitic neuropathy
Correct diagnosis and treatment of lupus vasculitis improved the woman's severe symptoms.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research The Rapunzel syndrome: is it an Asian problem? (case report and review of literature)
Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.
research Systemic lupus erythematosus presenting with homonymous hemianopia
Lupus can cause unusual vision problems, so it's important to consider it in such cases.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Epidermolysis Bullosa Acquisita Occuring In A Patient With Systemic Lupus Erythematosus
A woman with lupus also developed a severe skin condition linked to a genetic factor.
research LOOSE ANAGEN SYNDROME AND LOOSE ANAGEN HAIR
Loose Anagen Syndrome causes easy-to-pull, thin hair, mainly in young girls, and improves with age.
research Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings
Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.