research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
Search
for
Sort by
Research
750-780 / 1000+ resultsresearch Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Absence of Heart Failure in Severe Cardiac and Autonomic Amyloidosis: The Essential Role of Sympathetic Activation and Venous Tone in the Development of the Congestive Heart Failure Syndrome
Sympathetic activation and venous tone are crucial for heart failure symptoms.
research Heart Failure Due to Cardiac Transthyretin Amyloidosis
A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
research The role of vitamin D receptor mutations in the development of alopecia
Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
research 766 H3K9me3 methyltransferase SETDB1 controls retrotransposon silencing, DNA methylation, constitutive heterochromatin maintenance and 3D-chromatin structure in epidermal keratinocytes
SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Zinc deficiency during total parenteral nutrition in childhood
Long-term TPN in children can cause zinc deficiency, leading to health issues.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research Lead, Copper, Zinc, and Magnesium Content in Hair of Children and Young People with Some Neurological Diseases
research Chicken scratches.
Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research ELEVATION OF DIASTOLIC BLOOD PRESSURE AND REDUCTION OF VASCULAR CONTRACTION IN MAGNESIUM DEFICIENT RAT MODEL
Magnesium deficiency raises diastolic blood pressure and reduces vascular contraction.
research A Syndrome of Acute Zinc Deficiency During Total Parenteral Alimentation in Man
Zinc is crucial in nutrition, and its deficiency can cause health issues like diarrhea and hair loss, which improve with zinc therapy.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
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 Systemic Lupus Erythematous and Vitamin D Deficiency in an Adult Sudanese Patient with Sickle Cell Trait
A patient with sickle cell trait and low vitamin D might have lupus, a rare combination that needs more attention.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Use of dermatoscopy and videodermatoscopy in therapeutic follow-up: a review
Dermatoscopy and videodermatoscopy are useful and reliable for tracking treatment progress in various skin conditions.
research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Viral-associated trichodysplasia spinulosa: a case with electron microscopic and molecular detection of the trichodysplasia spinulosa-associated human polyomavirus
A rare skin condition was confirmed to be associated with a specific virus in a young girl.
research Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children
Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.