research JAAD Grand Rounds quiz∗
The document explains the diagnosis and characteristics of woolly hair nevus and alopecia neoplastica.
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research In vivohair growth promotion effects of cosmetic preparations containing hinokitiol-loaded poly(ε-caprolacton) nanocapsules
Cosmetics with hinokitiol-loaded nanocapsules were found to effectively promote hair growth.
research Protein disulphide isomerase-mediated grafting of cysteine-containing peptides onto over-bleached hair
PDI helps restore over-bleached hair's strength and structure by attaching special peptides.
research External lipid function in ethnic hairs
African hair has the most lipids, while Caucasian hair is more hydrated and stronger.
research Ethnic hair and skin: what is the state of the science?
Ethnic differences in hair and skin are significant and under-researched, requiring tailored dermatologic treatments and more study.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
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 Familial frontal fibrosing alopecia in two male families
Frontal fibrosing alopecia has occurred in two related male families.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research Ultra‐structural hair alterations in F riedreich's ataxia: A scanning electron microscopic investigation
Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
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 Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Keratosis follicularis spinulosa decalvans in a family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Familial Frontal Fibrosing Alopecia
Familial frontal fibrosing alopecia is rare, mostly affects women, and often occurs between sisters or mother-daughter pairs.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPH mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research A Silvery Hair Revolution: Case Report of Marie Antoinette Syndrome in a Child
Stress may cause sudden hair whitening in children.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Queratose folicular espinulosa decalvante: relato de caso
A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.