research Merkel cell differentiation in trichoblastoma
Trichoblastomas may mimic fetal skin development by having many Merkel cells, unlike adult skin.
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300-330 / 1000+ resultsresearch Follicular dystrophy of immunosuppression
Follicular dystrophy in immunocompromised patients may be linked to medication or viral factors and can improve with treatment changes.
research Functional lacrimal gland regeneration by transplantation of a bioengineered organ germ
Bioengineered lacrimal glands can restore tear production and protect eyes.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research In Vivo Confocal Microscopy for Automated Detection of Meibomian Gland Dysfunction: A Study Based on Deep Convolutional Neural Networks
research Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
research Cutaneous Neoplasms in Myotonic Dystrophy Type 1
People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research Coronavirus is not the only corona we know in dermatology
The document lists various skin conditions and structures named "corona" that are not related to the coronavirus.
research Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Diagnostic Role of Anterior Segment Optical Coherence Tomography in an Atypical Presentation of Varicella Zoster Virus Interstitial Keratitis: A Case Report
AS-OCT is crucial for diagnosing VZV interstitial keratitis and avoiding unnecessary treatments.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research 3D printing sequentially strengthening high-strength natural polymer hydrogel bilayer scaffold for cornea regeneration
A new 3D-printed hydrogel scaffold helps regenerate corneas and prevent scarring.
research Nevus comedonicus syndrome: a case associated with multiple basal cell carcinomas and a rudimentary toe
A man with nevus comedonicus syndrome had multiple skin issues, including basal cell carcinomas, which improved with treatment.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Primary cicatricial alopecia associated with systemic indolent mastocytosis
Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Minoxidil and bilateral central serous chorioretinopathy in an adolescent girl: relationship or causality?
Minoxidil might cause eye issues, so early detection is important.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.