research Viral-associated trichodysplasia in patients who are immunocompromised
Immunocompromised patients can develop skin and hair issues due to a virus.
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690-720 / 1000+ resultsresearch Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Pseudallescheria boydii infection associated with IgG4-related disease
Gene sequencing is crucial for diagnosing Junctional epidermolysis bullosa.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Association between testicular microlithiasis and primary malignancy of the testis: our experience and review of the literature
Testicular microlithiasis may increase the risk of testicular cancer and patients with it should be closely monitored.
research Clinical Snippets
Some cells may slow melanoma growth, a protein could affect skin pigmentation, a gene-silencing method might treat hair defects, skin bacteria changes likely result from eczema, and a defensin protein could help treat multiple sclerosis.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research Cell Membrane-Camouflaged Nanoparticles Mediated Nucleic Acids Delivery
Cell membrane-coated nanoparticles could improve gene therapy by enhancing delivery and targeting of nucleic acids.
research Aberrant DNA methylation in inflammatory skin diseases
DNA methylation changes are linked to skin diseases with inflammation.
research Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
research Mechanisms of skin vascular maturation and maintenance captured by longitudinal imaging of live mice
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research The extracellular matrix dictates regional competence for tumour initiation
The extracellular matrix affects where tumors can start in the body.
research Sperm aneuploidy in infertile male patients: a systematic review of the literature
Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.
research An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
A Turkish woman has a hair condition caused by a LIPH gene mutation.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Trichostasis Spinulosa Confirmed by Standard Skin Surface Biopsy
Trichostasis spinulosa can be diagnosed with a simple skin biopsy and treated with specific gels, but lesions may return after stopping treatment.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Secondary Syphilis in Cali, Colombia: New Concepts in Disease Pathogenesis
Secondary syphilis in Cali, Colombia, shows high Treponema pallidum presence and challenges in early diagnosis, needing better public health strategies.
research The molecular puzzle of autoinflammatory skin diseases—a review of chosen conditions
Autoinflammatory skin diseases are complex, increasingly common, and significantly affect quality of life.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Proliferating Trichilemmal Tumor Presenting as a Scrotal Mass in a Middle-Aged Male: An Uncommon Location
A rare benign tumor was found in a man's scrotum, highlighting the need for accurate diagnosis.
research Controversial Concepts
The author now believes tricholemmal carcinoma is a rare type of infundibular squamous cell carcinoma and more research is needed on these tumors.
research Exploring extracellular vesicles as novel therapeutic agents for intervertebral disc degeneration: delivery, applications, and mechanisms
Extracellular vesicles may help prevent and repair spine disc degeneration.
research Faculty Opinions recommendation of Keratin 79 identifies a novel population of migratory epithelial cells that initiates hair canal morphogenesis and regeneration.
Keratin 79 cells help form and regenerate hair canals.
research 578 Addressing the missing components for appropriate surveillance of Merkel cell carcinoma patients: Detailed recurrence data and an integrated risk analysis approach
Merkel cell carcinoma is most likely to recur within two years of diagnosis, and factors like immune suppression, being over 75, and male sex increase this risk.
research Mechanisms of vascular maturation and maintenance captured by longitudinal imaging of live mouse skin
Neonatal blood vessels rearrange and stabilize as adults, with adult vessels better at self-repair after injury.
research Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
research Trichodysplasia of immunosuppression treated with oral valganciclovir
Oral valganciclovir improved a patient's skin condition caused by immunosuppression.