research S1‐Guideline Cutaneous Angiosarcomas – Update 2021
Cutaneous angiosarcomas require a combined treatment approach, but prognosis is generally poor.
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research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Bilateral Xen is Used as Minimally Invasive Glaucoma Surgery for Glaucoma in GAPO Syndrome: Case Report
Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Successful management of Netherton syndrome using IVIG and dupilumab: A case report
A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
The patient's hair improved after treatment, but the genetic link is unclear.
research Recurrent pruritic polymorphic lesions associated with weight loss
A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.
research ACE2 Inhibits Dermal Regeneration Through Ang II in Tissue Expansion
Inhibiting ACE2 improves skin regeneration during tissue expansion.
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 Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.
research Clinical Features of Systemic Lupus Erythematosus Patients Complicated With Evans Syndrome
SLE patients with Evans syndrome often show blood issues and need careful monitoring and treatment.
research 81 Juvenile RHUPUS syndrome: a case reports
RHUPUS should be considered in children with deforming arthritis.
research Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Impaired Notch‐MKP ‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
research Incomplete Sjögren-Larsson Syndrome in Two Japanese Siblings?
research Anterior neck fat deposition in lipodystrophy syndrome; a new variant on a theme?
A new form of lipodystrophy in HIV patients causes neck fat buildup.
research Alopecia universalis with IL-12-RB1 and STAT4 mutations effectively treated with upadacitinib
Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
research Increased expression of Ectodysplasin A2 Receptor EDA2R is the most remarkable and ubiquitous aging-related transcriptional hallmark
The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
research A Rare Case of Antinuclear Antibody-Negative Systemic Lupus Erythematosus Presenting With Generalized Lymphadenopathy as the Initial Manifestation
A 16-year-old girl with lupus symptoms improved with treatment despite negative ANA tests.
research Urticaria, Drug Hypersensitivity Rashes, Nodules and Tumors, and Atrophic Diseases
The document concludes that various skin conditions have specific treatments, ranging from antihistamines for urticaria to surgery and medication for tumors and chronic skin diseases.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Multiple Retinal Emboli and Medial Canthal Swelling Following Injection of Acellular Porcine Urinary Bladder Matrix for Hair Restoration
A woman had eye pain and vision loss after a hair growth treatment, but her symptoms improved after a month.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research First‐degree relatives of patients with systemic lupus erythematosus: Autoreactivity but not autoimmunity?
Relatives of lupus patients show signs of immune system activity but not full-blown lupus.