research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
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research FAVOURE RACOUCHOT SYNDROME WITH SCALP INVOLVEMENT: A CASE REPORT
A rare skin condition usually found near the eyes was found on a farmer's scalp.
research Hypotrichosis congenita of Marie Unna
A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
research [Striatal involvement on MRI in adrenomyeloneuropathy].
MRI can show unusual brain changes in adrenomyeloneuropathy.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Pathology in Practice
A 7-year-old dog with a rare autoimmune disease was euthanized due to severe anemia and poor prognosis.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research DMBA/TPA Treatment Is Necessary for BCC Formation from Patched Deficient Epidermal Cells in Ptch flox/flox CD4Cre +/− Mice
Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
research Two females with hair loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research PRZYPADEK POLEKOWEJ MARTWICY ŻUCHWY (MRONJ)
Bisphosphonate therapy can cause jawbone necrosis, so dental care is crucial before and during treatment.
research Dominant dystrophic epidermolysis bullosa: Seven familial cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
research Refractory/relapse thrombocytopenia in a patient with Evans' syndrome successfully treated with zanubrutinib
A girl with Evans' syndrome had her low platelet count successfully treated with zanubrutinib.
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 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 Abstract 1677: Epithelial hyperplasia induced by a selective B-Raf inhibitor, WYE-130600
WYE-130600 may cause skin thickening and irritation.
research Molecular Genetics of Human Hair Diseases
research A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Pyoderma gangrenosum presented as generalized pustules in a patient with Crohn’s disease
Recognizing unusual symptoms in Crohn's disease is crucial for proper treatment.
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 Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Pyodermatitis vegetans associated with multiple myeloma
A skin condition called pyodermatitis vegetans was found in a patient with multiple myeloma for the first time.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research O19 CYLD cutaneous syndrome tumours demonstrate increased NF-κB signalling and diminished collagen organisation.
Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
research Case report: Systemic granulomatous disease with vasculitis in a bull due to hairy vetch (Vicia villosa) toxicosis
A bull got very sick and had to be put down after eating hairy vetch for months.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Epidermolysis bullosa in calves in the United Kingdom
Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.