research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
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research Diffuse congenital hypotrichosis simplex with associated hair shaft fragility
The document's conclusion cannot be provided because the document is not available or cannot be understood.
research P28 Traumatic anserine folliculosis: a cause of facial follicular papules
Rubbing or pressing on the face can cause small bumps, and changing posture along with certain creams can improve them.
research Inducible ß-Catenin Activation and PTEN Inactivation Elicit Follicular Tumours, Not Papillomas: A Potential Paradigm for Trichilemmomas in Cowden’s Disease
Activating β-catenin and inactivating PTEN cause follicular tumors, not papillomas, similar to those in Cowden’s Disease.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
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 A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Trichoscopy in genetic hair shaft abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Trichoscopic Signs in Dermatomyositis, Systemic Lupus Erythematosus, and Systemic Sclerosis: A Comparative Study of 150 Patients
Trichoscopy can help diagnose and assess disease activity in connective tissue diseases by identifying specific hair and scalp signs.
research オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
research Lymphocytic Mural Folliculitis Resembling Epitheliotropic Lymphoma in Tigers (Panthera tigris)
Tigers had a skin condition causing hair loss and inflammation, but the cause is unknown and treatment didn't work.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Patterned Trichoteiromania in Androgenetic Alopecia
Self-induced hair loss should be considered in patients with androgenetic alopecia.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Early leonine facies with alopecia in a young man
A young man was diagnosed with trichoepitheliomas, causing thick skin and hair loss.
research Effectiveness of Anastrozole and Cyproterone Acetate in Two Brothers with Familial Male Precocious Puberty
Anastrozole and cyproterone acetate treatment can help increase adult height in boys with testotoxicosis.
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research A 3-Year-Old Girl with Thin Hair
The girl's thin hair was due to loose anagen syndrome, not other hair loss types.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Genetics of thyroid lesions updated
RET mutation is important in familial medullary thyroid carcinoma, and BRAF mutation in papillary thyroid carcinoma is linked to more aggressive cancer and higher death rates.
research Turner's syndrome associated with psoriasis and alopecia areata
Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Office Diagnosis of Hair Shaft Defects
The document explains how to identify different hair problems using a microscope.
research Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Type 3 autoimmune polyendocrine syndrome (APS) diagnosed in an 87-year-old patient with a concomitant chronic autoimmune urticaria
An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
research Clouston syndrome associated with eccrine syringofibroadenoma
Clouston Syndrome can be linked to rare sweat gland tumors.