research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
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810-840 / 1000+ results research Aplasia cutis congenita on lumbosacral area
A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
research Skin features in myotonic dystrophy type 1: An observational study
People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
research 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 Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Latent polyglandular autoimmune syndrome type 2 case diagnosed during a shock manifestation
A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
research Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research Dominant dystrophic epidermolysis bullosa: Seven familial cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
research Kinky Hair Disease. Biochemical, Histochemical, and Ultrastructural Studies
research Pathological Studies of Cross‐Related Congenital Hypotrichosis in Cattle
Crossbreeding certain European cattle breeds may cause hair and physical issues in cattle.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research 876 Imaging nanoscale changes in desmosome protein organization
Desmoglein 3 organization in cell connections changes without calcium, affecting cell adhesion.
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 Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.
research Synaptic processes and immune-related pathways implicated in Tourette Syndrome
The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
research Sequence analyses of Type I and Type II chains in human hair and epithelial keratin intermediate filaments: Promiscuous obligate heterodimers, Type II template for molecule formation and a rationale for heterodimer formation
Type I and Type II keratin chains can form heterodimers despite sequence differences.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental 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 Congenital hypotrichosis due to short anagen
Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
research 851 The role of astrotactin2 in regulating mammalian skin polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Partial Penile Amputation due to Penile Tourniquet Syndrome in a Child Troubled With Primary Nocturnal Enuresis - A Rare Emergency
An 8-year-old boy with bed-wetting issues suffered a severe penile injury from tying a thread around his penis, requiring urgent medical treatment to avoid worse outcomes.
research Nail Whispers Revealing Dermatological and Systemic Secrets: An Analysis of Nail Disorders Associated With Diverse Dermatological and Systemic Conditions
Nails can reveal important health information about skin and body conditions.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research Hypertrichosis in Childhood
Childhood hypertrichosis is excessive hair growth not linked to hormones, with types based on location and origin.
research Madarosis: A dermatological marker
research Spontaneous Super-Contraction of Animal Hair
Animal hair can curl tightly on its own, especially in foxes, due to changes in keratin.
research Tricorrexis nodosa localizada
Avoiding damage and using specific shampoo and supplements improved the hair condition.