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.
Search
for
Sort by
Research
240-270 / 1000+ results 
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Diffuse hypotrichosis from early childhood
The girl has a genetic hair condition causing thin hair since childhood.
research Follicular mucinosis in association with Sezary syndrome
A patient with Sézary syndrome showed improvement after treatment and the study suggested follicular mucinosis might indicate future lymphoma risk.
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.
research Uncombable hair syndrome: Observations on response to biotin and occurrence in siblings with ectodermal dysplasia
Biotin improved hair growth and combability in one child with uncombable hair syndrome.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Commentary: Darier-White Disease
The conclusion is that Darier-White disease was accurately described by White but he missed the key feature of dyskeratotic cells which Darier identified.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Cronkhite-Canada Syndrome: an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps
Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research Rapunzel syndrome: a rare form of trichobezoar in the stomach with some extension into the small intestine
An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome often have skin issues and need regular check-ups for early treatment.
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 Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Renal tubular dysfunction presenting as recurrent hypokalemic periodic quadriparesis in systemic lupus erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.