research Rapidly progressive diffuse fibrosing alopecia
These hair loss conditions might be part of a spectrum, not separate issues.
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research A case of primary cutaneous natural killer/T-cell lymphoma, nasal type, with indolent clinical course: monoclonal expansion of Epstein-Barr virus genome correlating with the terminal aggressive behaviour
The growth of the Epstein-Barr virus in the patient's cells was linked to the worsening of her lymphoma.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)
A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
research Fatal Case of Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Induced by Doxycycline or Flucloxacillin in a 77-Year-Old Woman: A Rare but Serious Adverse Drug Reaction
Doxycycline or flucloxacillin can cause a rare, severe skin reaction that can be fatal, especially in the elderly.
research Folliculotropic mycosis fungoides following renal transplantation
A man developed a skin cancer called folliculotropic mycosis fungoides after a kidney transplant.
research ALZHEIMER DISEASE: WHAT’S NEW, WHAT’S TRUE?
Alzheimer's may be treated by targeting gut bacteria and inflammation.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Clinical Case Notes. Tamoxifen optic neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research Primary High‐Grade Ovarian Sertoli–Leydig Cell Tumor With Bilateral Adnexal Involvement in a Patient Diagnosed With Peutz–Jeghers Syndrome
Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
research A Case of Cronkhite-Canada Syndrome with Telogen Effluvium and Onycholysis
Prednisolone treatment improved symptoms and hair regrowth in a patient with Cronkhite-Canada Syndrome.
research A new familial presentation of dissecting cellulitis: The genetic implications on scarring alopecias
Dissecting cellulitis may have genetic links and can cause permanent hair loss.
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 Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Translational Positioning of Janus Kinase (JAK) Inhibitors in Alopecia Areata
JAK inhibitors may help treat Alopecia Areata but need careful monitoring due to side effects.
research Skin fragility, diffuse ecchymosis and blisters on a yellowish waxy base
A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research Dizziness and rash in an HIV positive man
The man likely has secondary syphilis affecting his nervous system.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research PINK1 deficiency rewires early immune responses in a mouse model of Parkinson’s disease triggered by intestinal infection
PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Acquired epidermodysplasia verruciformis in a heart transplant patient
A heart transplant patient developed a skin condition called epidermodysplasia verruciformis after taking immune-suppressing drugs.
research Recurrent inverse necrotizing infundibular crystalline folliculitis
Recurrent NICF is a rare skin condition with unclear causes, involving follicle inflammation and crystal deposits.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Acquired Localized Hypertrichosis Induced by Rivastigmine
An 80-year-old man grew extra hair on his forearms after starting Alzheimer's medication rivastigmine.
research Dilated tonic pupils with tabes dorsalis in neurosyphilis as first manifestation of HIV/AIDS: a video report
Dilated pupils can be an early sign of HIV/AIDS.