research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
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930-960 / 1000+ results research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research Dual Tumors — Trichoadenoma of Nikolowski and Melanocytic Naevi
A person had two different benign skin tumors, a trichoadenoma and melanocytic naevi, at the same time but in different places on the face.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders
Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Severe cardiac conduction abnormalities associated with atypical toxic shock syndrome
A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.
research 851 The role of astrotactin2 in regulating mammalian skin polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Monilethrix treated with oral retinoids
Oral etretinate improved hair length and reduced beading in monilethrix.
research Naevus trichilemmocysticus – the first paediatric case of a newly delineated organoid naevus
The first pediatric case of naevus trichilemmocysticus was documented.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Hair thread tourniquet syndrome in a male infant: a rare surgical emergency
A baby boy's toe was saved from damage caused by hair strangulation by quick surgical treatment.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Becker's Melanosis and Hypertrichosis*
Becker's Melanosis and Hypertrichosis mainly affects young males, causing brown skin patches and extra hair on one side of the upper body.
research Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
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 Carotid Body Tumor: Review of the Literature and Report of a Case With a Rare Sensorineural Symptomatology
A man's rare tumor caused unusual nerve-related symptoms that improved after surgery.
research Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research Cavitating Osmotic Demyelination Syndrome Following Correction of Chronic Hyponatremia in Sheehan’s Syndrome: A Novel Case Report
Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
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.