research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
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research Congenital hair loss disorders: Rare, but not too rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Epidemiological and investigative study of premature graying of hair in higher secondary and pre-university school children
Kids with early graying hair often have low levels of calcium, ferritin, and vitamin D3.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research Micronutrient Deficiencies and Digital Computerized Phototrichogram Analysis in Telogen Effluvium: A Retrospective Correlation Study in a Tertiary Medical Center
Low hemoglobin levels are significantly correlated with hair loss in women with Telogen Effluvium.
research Graded levels of pyridoxine in the rat diet during gestation and the physical and neuromotor development of offspring
Not enough vitamin B6 in pregnant rats' diets caused poor development and health in their babies.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Neurosarcoidosis Occurring 6 Years after Onset of Vogt-Koyanagi-Harada Disease
VKHD and sarcoidosis may share a common cause.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Unusual symptoms of iron deficiency anemia (2 clinical observations)
Early iron deficiency can lead to anemia during puberty, so it's important to address it early.
research Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
research Office Diagnosis of Hair Shaft Defects
The document explains how to identify different hair problems using a microscope.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research DHT deficiency perturbs the integrity of the rat seminiferous epithelium by disrupting tight and adherens junctions
DHT deficiency can disrupt cell connections in rat testes, possibly affecting fertility.
research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Increased risk of vitamin D deficiency and insufficiency in Black patients with central centrifugal cicatricial alopecia
Black patients with a specific type of hair loss have a much higher chance of lacking enough vitamin D.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Current and future perspectives on clinical management of classic 21-hydroxylase deficiency
Treating classic 21-hydroxylase deficiency requires precise glucocorticoid dosing and attention to individual patient needs, with new treatments showing promise.
research THE EFFECT OF ZINC AND COPPER DEFICIENCY ON HEMATOLOGICAL PARAMETERS, OXIDATIVE STRESS AND ANTIOXIDANTS LEVELS IN THE SHEEP.
Zinc and copper deficiency harms sheep health and normal body functions.
research Incidence of Vitamin D Deficiency in Patients with Female Pattern Hair Loss (FPHL)
Most women with female pattern hair loss have low vitamin D levels.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Changes in cuticle of scalp hair in mild acquired zinc deficiency: A study using scanning electron microscopy
Zinc deficiency causes early scalp hair damage that recovers slower than skin symptoms.