65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
April 2024 in “Current Rheumatology Reviews” MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
37 citations
,
September 2005 in “Australasian Journal of Dermatology” A man with scalp and neck skin issues improved after a year of oral isotretinoin.
2 citations
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November 2019 in “Cancer reports” The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.
May 2024 in “Australasian journal of dermatology” A man with a type of skin lymphoma had unusual yellowish skin growths despite normal blood lipid levels, and treatment reduced some symptoms but not the growths.
129 citations
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May 2015 in “Cell Stem Cell” Different types of stem cells exist within individual skin layers, and they can adapt to damage, transplantation, or tumor growth. These cells are regulated by their environment and genetic factors. Tumor growth is driven by expanding, genetically altered cells, not long-lived mutant stem cells. There's evidence of cancer stem cells in skin tumors. Other cells, bacteria, and genetic factors help maintain balance and contribute to disease progression. A method for growing mini organs from single cells has been developed.
January 2022 in “Indian dermatology online journal” Pigmented papules on the ear can be a rare skin condition called cutaneous amyloidosis, treatable with topical tretinoin.
February 2026 in “International Journal of Homoeopathic Sciences” Plica Polonica is a rare hair disorder causing severe matting, managed by detangling or cutting, and prevented with regular hair care.
5 citations
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May 2021 in “BMC surgery” A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
October 2025 in “Indian Journal of Dermatology” Dermoscopy can help diagnose tuberous sclerosis by identifying unique skin patterns.
4 citations
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January 2019 in “Obstetrics & gynecology science” A PET-CT scan successfully located a hard-to-find Leydig cell tumor in a woman with hormonal symptoms.
1 citations
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March 2022 in “Frontiers in Medicine” Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.
18 citations
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January 2013 in “Veterinary Dermatology” K15 is a reliable marker for studying stem cells in dog hair follicle tumors.
16 citations
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August 2007 in “Histopathology” A woman's rare adrenal tumor caused high testosterone and cortisol levels, which normalized after the tumor was removed.
April 2023 in “Journal of Investigative Dermatology” The research shows that skin cancer likely originates from hair follicles and that certain cell populations expand to promote skin cancer growth.
January 2015 in “Scientific Works. Series C, Veterinary Medicine” Canine demodicosis diagnosis is complex due to varied symptoms and atypical presentations.
13 citations
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February 1980 in “Journal of Cutaneous Pathology” Rubbing seborrheic keratoses causes specific skin changes and may link them to hair follicles.
April 1977 in “Pediatric Research” January 2020 in “Revista Dermatológica Centro Uraga” Recognizing trichoscopic features is crucial for diagnosing various hair loss conditions.
April 2017 in “Journal of Investigative Dermatology” Reduced Stx17 expression may contribute to Alopecia Areata.
January 2025 in “BMJ Case Reports” Precocious puberty can signal familial adenomatous polyposis.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
September 2022 in “Anais Brasileiros de Dermatologia” Dermoscopy helped diagnose a rare skin disease which slightly improved with treatment.
14 citations
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February 2003 in “Journal of the American Academy of Dermatology” Folliculotropic mycosis fungoides can affect the central nervous system in advanced stages.
23 citations
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June 2016 in “Journal of Veterinary Internal Medicine” Cats can have hypersomatotropism without diabetes, suggesting current diagnosis methods may miss cases.
1 citations
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June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
5 citations
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August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
2 citations
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.