October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.
18 citations
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February 2007 in “Journal of Investigative Dermatology” Deleting Rac1 in the skin depletes stem cells and damages hair follicles.
16 citations
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April 2007 in “Journal of Medical Primatology” The monkey's hair loss was due to an autoimmune disease, not genetics.
13 citations
,
January 2012 in “Case reports in dermatological medicine” An 84-year-old man got a rare scalp condition from using imiquimod cream, which was cured with systemic steroids.
25 citations
,
May 2016 in “Progress in Biophysics & Molecular Biology” R-spondins and their receptors help increase bone growth and may be used to treat bone loss diseases.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
July 2025 in “Journal of Investigative Dermatology” Upadacitinib effectively treats pyoderma gangrenosum.
September 2017 in “Griffith Research Online (Griffith University, Queensland, Australia)” Blocking IL-17 can reduce joint inflammation in Ross River Virus infections.
9 citations
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August 2002 in “Current Opinion in Pediatrics” An 18-year-old girl with pemphigus vulgaris needed strong medication and careful treatment due to ineffective initial therapies and side effects.
82 citations
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April 1981 in “Clinical endocrinology” A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
September 2025 in “BMJ Case Reports” Platelet-rich plasma therapy may rarely trigger herpes zoster ophthalmicus.
July 2024 in “Journal of Investigative Dermatology” Spontaneous keloids may be linked to nephrogenic systemic fibrosis in dialysis patients.
4-(Ethoxycarbophenyl) retinamide is much less toxic than other retinoids.
14 citations
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July 2007 in “Lupus” Multiple pregnancies prevent skin disease but worsen kidney disease in certain mice.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
August 2018 in “Journal of Investigative Dermatology” A woman with dermatomyositis improved after treatment for neck panniculitis, suggesting similar treatment for related conditions.
February 2010 in “Emergency Medicine News” The woman has Discoid Lupus Erythematosus and needs specialist care.
January 2026 in “Clinical and Experimental Dermatology” Ruxolitinib helped a patient with alopecia areata regrow hair.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
23 citations
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June 1992 in “PubMed” RAR-gamma 1 is important for normal skin maintenance and differentiation.
170 citations
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May 1979 in “The journal of pediatrics/The Journal of pediatrics” Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
2 citations
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August 2023 in “Die Dermatologie” Genetic mutations affecting DNA repair cause early aging symptoms in progeroid syndromes.
26 citations
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September 2012 in “Journal of The American Academy of Dermatology” Patients with rapidly progressive alopecia areata often have a better outlook and shorter disease duration, with regrown fine hairs and no past alopecia being positive signs.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
14 citations
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November 1979 in “Pediatric Research”
20 citations
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March 1985 in “Journal of The American Academy of Dermatology” Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
January 2022 in “Menoufia Medical Journal /Menoufia Medical Journal” Higher levels of retinol-binding protein 4 are found in people with alopecia areata, but these levels don't relate to how severe the condition is.
CRPS I is complex, linked to immune and nerve issues, and needs comprehensive treatment.