research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
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research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research Hypersomatotropism in 3 Cats without Concurrent Diabetes Mellitus
Cats can have hypersomatotropism without diabetes, suggesting current diagnosis methods may miss cases.
research Multi-omics analysis unveils the role of cancer-associated fibroblasts in cutaneous squamous cell carcinoma
Cancer-associated fibroblasts promote tumor growth in skin cancer.
research Acquired ichthyosis, alopecia and loss of hair pigment associated with leiomyosarcoma.
A woman's skin and hair conditions improved after her cancerous tumor was removed.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research Primary Cutaneous Rhabdoid Squamous Cell Carcinoma: A Case Report and Review of Molecular Features
Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research CUTANEOUS T-CELL LYMPHOMA
The document concludes that DAB389-IL2 is promising for treating refractory cutaneous T-cell lymphoma, but more research is needed on its effectiveness and side effect management.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management
A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
research Absence of Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis?
Men with X-linked recessive ichthyosis may not experience typical male-pattern baldness.
research Activation of liver X receptors inhibits experimental fibrosis by interfering with interleukin-6 release from macrophages
Activating liver X receptors can reduce fibrosis by stopping certain immune cells from releasing harmful proteins.
research An Erythematous Plaque With Overlying Alopecia on the Scalp of a Child —Diagnosis
The child was diagnosed with cutaneous leishmaniasis.
research Proliferative, lymphocytic, infundibular mural folliculitis and dermatitis with prominent follicular apoptosis and parakeratotic casts in four L abrador retrievers: preliminary description and response to therapy
A new skin disease in four Labrador retrievers responded well to immunosuppressive treatment.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
Intralesional cidofovir may be a viable alternative treatment for SCC.
research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
research Cystitis Due to Cytoxan: Case Report
A woman developed severe bladder inflammation after cancer treatment with Cytoxan.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research The ultrastructure of the interfollicular epidermis of the hairless (hr/hr) mouse
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.