research A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy
Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
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research Decades of progressive red and yellow nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
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 IMAGING INSIGHTS INTO JC VIRUS-ASSOCIATED PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY IN NEUROPSYCHIATRIC LUPUS: A CASE REPORT
Careful monitoring is crucial to prevent JC virus reactivation in lupus patients treated with rituximab.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
research Reticular Erythematous Mucinosis Syndrome
Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
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 Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research At the Root: Cutaneous Langerhans Cell Histiocytosis
A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
research 85 Primary cutaneous follicle center lymphoma spans yet unrecognised subtypes including polyclonal reactions
PCFCL may have unrecognized subtypes and needs more research.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
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 A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research Steroid Responsive Mononeuritis Multiplex in the Cronkhite–Canada Syndrome
Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research Myeloproliferative disorder associated with alopecia universalis
Ruxolitinib helped regrow hair in a woman with a blood disorder and complete hair loss.
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.