research Unusual Cause of Chronic Diarrhea: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
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810-840 / 1000+ resultsresearch SAT-213 Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
research Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Hair: more than just an appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
research Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin
Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
research Supplementary Material for: A Silvery Hair Revolution: Case Report of Marie Antoinette syndrome in a child
Stress can cause sudden hair whitening in children, but it may reverse on its own.
research Supplementary Material for: A Silvery Hair Revolution: Case Report of Marie Antoinette syndrome in a child
Stress can cause sudden hair whitening in children, but it may reverse on its own.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
research Female-patterned alopecia in teenage brothers with unusual histologic features
Two teenage brothers had a rare, treatment-resistant form of female-pattern hair loss with unusual scalp changes.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: A quantitative analysis by Raman microspectroscopy
TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
research Immunological Profile of Patients Presenting Down Syndrome and Alopecia Areata
Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research The comparison of metabolic syndrome parameters, trichoscopic and trichoscan characteristics in androgenetic alopecia (AGA) and early-onset androgenetic alopecia (early-onset AGA)
Androgenetic alopecia may be linked to metabolic syndrome.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research 489 Seborrhea-like dermatitis phenotype in the Mpzl3 knockout mice
MPZL3 is crucial for seborrheic dermatitis development.
research Remarks on the Hormonal Background of the Male Equivalent of Polycystic Ovary Syndrome
Men might have a version of the female disease, polycystic ovarian syndrome, shown by changes in hormone levels and early baldness, but more research is needed to fully understand it.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome
Certain gene variations are found in people with polycystic ovary syndrome.
research Frontal fibrosing alopecia in association with Sjögren's syndrome: more than a simple coincidence
Frontal Fibrosing Alopecia may be linked to autoimmune diseases like Sjögren's syndrome.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.