research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
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research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Dermatophytosis in sheep due to Trichophyton mentagrophytes; occurrence, haemato-biochemical and pathomorphological changes*
Trichophyton mentagrophytes causes skin issues and nutrient deficiencies in young sheep, especially in winter.
research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research Sparse Brittle Hair and Bilateral Temporal Alopecia in a Child
A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
research Spontaneous hair hyperpigmentation in response to vitamin intake in pregnancy—A clue for homocystinuria
Taking vitamin B6 corrected a pregnant woman's metabolic disorder, which changed her hair color.
research Coming of Age of Melanogenesis-Related Proteins
Tyrosinase and gp100 proteins can help diagnose and treat melanoma.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research A solitary triangular alopecia
A five-year-old girl has a harmless, unchanging bald patch on her scalp.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research Hydroxytyrosol Alleviates Acute Liver Injury by Inhibiting the TNF-α/PI3K/AKT Signaling Pathway via Targeting TNF-α Signaling
Hydroxytyrosol helps reduce liver injury by blocking certain inflammation pathways.
research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research A case of loose anagen hair syndrome associated with trichotillomania in a 14-year-old girl
A 14-year-old girl with a condition that makes her hair easy to pull out also has a hair-pulling disorder, and treatment helped but she relapsed after a year.
research Temporal triangular alopecia
Temporal triangular alopecia is a lifelong condition with hairless patches on the side of the head that may be present from birth.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Monilethrix unveiled by initial androgenetic alopecia.
An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
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 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Linear trichoepithelioma on the neck of a 15-year-old girl
A 15-year-old girl has a benign skin tumor on her neck.
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 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 Alopecia Areata with Renal Dysgenesis
Alopecia areata may be linked to kidney issues, but more research is needed.
research Temporal Triangular Alopecia: Report of Five Cases in Asian Children
Temporal triangular alopecia is a non-scarring hair loss seen in some Asian children.
research Acquired Hypertrichosis Lanuginosa: A Rare Cutaneous Paraneoplastic Syndrome
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.