research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
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960-990 / 1000+ resultsresearch Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
Deleting the CDSN gene causes severe skin and hair problems, leading to death.
research The Influence of Portocaval Shunting on Inner Ear Structures
PCS rats show significant inner ear damage and zinc deficiency, similar to liver cirrhosis patients.
research The Association of Hispanic Ethnicity with Nonalcoholic Fatty Liver Disease in Polycystic Ovary Syndrome
Hispanic women with PCOS are more likely to have liver diseases like NAFLD and NASH.
research Acquired pili torti--a structural hair shaft defect in anorexia nervosa.
Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research Porokeratotic adnexal ostial naevus: review on the entity and therapeutic approach
Laser treatments are the most effective for porokeratotic adnexal ostial nevus.
research The Nude Mutant Gene Foxn1 Is a HOXC13 Regulatory Target during Hair Follicle and Nail Differentiation
HOXC13 is essential for hair and nail development by regulating Foxn1.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
research Calcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice
Calcium blockers may help prevent hearing loss by protecting hair cells.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Tangled
A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
research The Coexistence of Trachyonychia and Mucocutaneous Lichen Planus: A Case Report
Early diagnosis and treatment of nail and skin conditions can improve health and appearance.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae
A man with scalp and neck skin issues improved after a year of oral isotretinoin.
research Edematous striae distensae
The girl's swelling and skin issues improved with fluid restriction and diuretics.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research Data_Sheet_1_Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.docx
Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Clinical study on 88 cases of Korean 20-nail dystrophy
The study concludes that Twenty-nail dystrophy is more common in boys among children and in women among adults, with varying response to treatment.
research Comorbidities and Treatment Options for Acne Keloidalis Nuchae
AKN is a chronic scalp condition in African-descended males, treated with topicals, antibiotics, steroids, and sometimes surgery or laser.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Constipation With AMA and ANA Positivity as an Atypical Manifestation of Celiac Disease: A Case Report
A strict gluten-free diet can improve liver issues in celiac disease.
research [A case of "syndrome of progressive muscle spasm, alopecia, and diarrhea (Satoyoshi)" treated with steroid pulse therapy].
Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
research Antioxidants and Long Covid
Antioxidants might help manage Long Covid by addressing oxidative stress and nutrient imbalances.
research Pellagrous dermatitis: a forgotten entity
Pellagrous dermatitis, caused by niacin deficiency, can be cured with vitamin supplements.