research Cronkhite-Canada syndrome associated with colon cancer metastatic to liver
A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.
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research Recent advances in congenital ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Molecular and Functional Characterization of Clonogenic Human Thymic Epithelial Cells
Human thymus has stem cells that can self-renew and maintain their identity.
research Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis
Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
research Folliculosebaceous cystic hamartoma with hair shaft fragments.
A rare ear cyst contained hair fragments.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Effect of X-Irradiation on Differentiating Hair Follicles
X-ray exposure affects developing hair follicles.
research Evaluation of cardiovascular disease risk factors in patients with mycosis fungoides
Patients with mycosis fungoides have a higher risk of heart disease.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research sm“FISH”ing for Hedgehog
Hedgehog signaling controls hair follicle development and can affect skin cancer growth.
research IKZF1 and Ikaros Overexpression Results in Alopecia Areata‐Like Phenotype in Mice
Overexpression of IKZF1 and Ikaros causes hair loss in mice similar to alopecia areata.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Protoporphyrin IX: the Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Investigation of Insulin-Like Growth Factor 1 Receptor Expression in Cases of Sacrococcygeal Pilonidal Sinus
Decreased IGF-1R expression may contribute to sacrococcygeal pilonidal sinus development.
research Isolated episcleral plasmacytoma mimicking episcleritis in a patient with benign monoclonal gammopathy
An isolated episcleral plasmacytoma can mimic episcleritis, making diagnosis challenging.
research Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Excessive body hair can signal complex health issues.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Diagnosis Of Satoyoshi Syndrome Using A Neuroblastoma Cell (SH-SY5Y) Lysate As Substrate For Western Blot
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
research Cycle pilaire et alopécie X chez le chien
Alopecia X in dogs is a cosmetic issue, not a hormonal disorder, and harmful treatments should be avoided.
research ODP342 Panhypopituitarism Induced by CTLA-4 and PD-1/PD-L1 Inhibitor Immunotherapy
Immunotherapy for cancer caused a patient to develop a condition affecting hormone production, requiring ongoing hormone replacement therapy.
research A previously undescribed cutaneous paraneoplastic syndrome in a cat with thymoma
Thymoma in cats can cause hair loss without inflammation.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Skin tumors with matrical differentiation: lessons from hair keratins, beta‐catenin and PHLDA ‐1 expression
Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.
research Demethylation of ITGAV accelerates osteogenic differentiation in a blast-induced heterotopic ossification in vitro cell culture model
Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.