1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
23 citations
,
February 2003 in “British Journal of Dermatology” A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
2 citations
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September 2017 in “Journal of Zoo and Wildlife Medicine” An addax had skin cancer that spread to lymph nodes and was euthanized.
February 2025 in “Veterinary Clinical Pathology” The ferret had a malignant apocrine gland tumor and did not survive surgery.
5 citations
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September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
7 citations
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May 1996 in “PubMed” Milia en plaque can be caused by skin damage, tumors, or external factors.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
14 citations
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June 2019 in “BMC infectious diseases” A rare fungal infection on a child's scalp was successfully treated with antifungal medication.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
January 2020 in “International Journal of PharmTech Research” A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
2 citations
,
February 1981 in “Journal of the Royal Society of Medicine” A three-year-old girl survived a rare serious infection caused by BCG vaccination, which improved after treatment with a leprosy drug.
6 citations
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April 2010 in “The American Journal of Surgical Pathology” Trichoblastoma in the breast can be mistaken for cancer, so expert review is crucial to avoid misdiagnosis.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
3 citations
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October 2001 in “British Journal of Ophthalmology” An isolated episcleral plasmacytoma can mimic episcleritis, making diagnosis challenging.
March 2023 in “Pediatrics & neonatology” A baby girl had two brain-related growths removed and is developing normally.
September 2011 in “Archives of dermatology” The child was diagnosed with cutaneous leishmaniasis.
September 2025 in “Cureus” Plica neuropathica can occur with diffuse alopecia and should be considered in diagnosis.
9 citations
,
August 2017 in “Journal of comparative pathology” Trichoblastomas in rabbits are linked to uncontrolled embryonic hair growth and have distinct histological features.
56 citations
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October 2010 in “Pediatric Clinics of North America” Epidermal nevi are skin cell clusters linked to various syndromes.
June 2025 in “Dermatologic Surgery” Surgery can effectively treat severe eyelid turning out caused by a rare skin disorder.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
34 citations
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January 1998 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Trichoblastomas may mimic fetal skin development by having many Merkel cells, unlike adult skin.
4 citations
,
January 2010 in “Journal of Veterinary Medical Science” The analyses helped identify different skin diseases in the two dogs.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
34 citations
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July 2013 in “Clinical Cosmetic and Investigational Dermatology” Erosive pustular dermatosis is a rare skin disease that's hard to treat and affects the scalp or legs.