April 2024 in “Rheumatology” A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
January 2025 in “Dermatologic Therapy” CO₂ laser therapy improves skin and hair growth in localized scleroderma without severe side effects.
7 citations
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April 2021 in “Journal of Lower Genital Tract Disease” Erosive lichen sclerosus is a distinct subtype with specific skin features, and treatment led to complete resolution in half of the cases.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
42 citations
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January 2003 in “International Journal of Gynecological Pathology” PEH in vulvar LS is common and needs careful diagnosis to avoid confusion with cancer.
40 citations
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October 2012 in “Journal of the American Academy of Dermatology” CLASI is a valid tool for assessing skin activity and damage in lupus patients.
September 2024 in “Journal of the American Academy of Dermatology” 32 citations
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October 2005 in “PubMed” Scurvy, caused by lack of vitamin C, can be mistaken for other conditions but improves with vitamin C supplements.
40 citations
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August 2010 in “Archives of dermatology” A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.
Lhx2 helps retinal cells respond to signals for eye development.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
25 citations
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May 1994 in “Journal of Investigative Dermatology” Researchers found a new gene, hacl-1, that is active in mouse hair follicles during hair growth and may be important for hair biology.
1 citations
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August 1983 in “PubMed” CVP therapy showed moderate success in treating advanced non-Hodgkin's lymphoma, but more intensive treatment is needed for better outcomes.
7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
April 2024 in “Jurnal Ilmu Kesehatan Hewan” The cat fully recovered after treatment and showed no further symptoms.
9 citations
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May 2013 in “European Journal of Dermatology” Dermoscopy can non-invasively detect eruptive vellus hair cysts on the labia majora.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
99 citations
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May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
VDAC2 promotes cell death in cashmere goat hair follicles through the P53 pathway.
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.
Understanding genetics is crucial for treating heart and skin diseases.
11 citations
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October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
4 citations
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August 2002 in “British Journal of Ophthalmology” Surgical excision is the best treatment for SCC.
4 citations
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January 2020 12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
35 citations
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October 2014 in “Wound Repair and Regeneration” The model helps understand scar contraction and develop new treatments.