research Swiss Practice Recommendations for the Management of Hidradenitis Suppurativa/Acne Inversa
Swiss experts recommend specific guidelines for diagnosing and treating hidradenitis suppurativa to improve patient care.
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780-810 / 1000+ resultsresearch The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Targeting the Complexity of In Vitro Skin Models: A Review of Cutting-Edge Developments
In vitro skin models are improving but still need more innovation to fully replicate human skin.
research Erythromelanosis follicularis faciei in women
Erythromelanosis follicularis faciei can also affect women, though it's rare.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Association of epidemiological and biochemical factors with premature graying of hair: A case–control study
Genetics and nutritional deficiencies are key factors in premature graying of hair.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Polycystic ovary syndrome
PCOS is a condition causing irregular periods, excess male hormones, and infertility, often managed by targeting insulin resistance and specific symptoms.
research Renal tubular dysfunction presenting as recurrent hypokalemic periodic quadriparesis in systemic lupus erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease
A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Trichilemmal cyst of the neck: case report and review of the literature
A young girl had a rare neck cyst removed and needs careful monitoring for related health issues.
research Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia
A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Sebaceous gland diseases: clinical picture risk factors and treatment
Different sebaceous gland diseases can be treated with medications, hormone therapy, or surgical methods.
research Lichen Planopilaris
Lichen planopilaris causes permanent hair loss and scarring due to damage to hair follicles and can be mistaken for other hair loss conditions.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Comparative Study of Some Potential Paracrine Factors Produced by Normal and Androgenetic Alopecia Hair Follicles
Balding hair follicles have less growth-promoting factors and more inhibitory factors, leading to hair loss.
research Biology of hair pigmentation and its role in premature canities
Early hair graying is often inherited and influenced by genetics, environment, and lifestyle, but treatment options are limited.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Demographic Characteristics and Association of Serum Vitamin B12, Ferritin and Thyroid Function with Premature Canities in Indian Patients from an Urban Skin Clinic of North India: A Retrospective Analysis of 71 Cases.
Low levels of vitamin B12 and ferritin are linked to early hair graying.