September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
39 citations
,
April 2015 in “Regeneration” Lizards can regrow their tails, and studying this process helps understand scar-free healing and limb regeneration.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
31 citations
,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
1 citations
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January 2014 in “Rinsho Shinkeigaku” Immunological treatment improved both neuropathy and alopecia.
May 2024 in “British Journal of Community Nursing” PHMB products improve wound healing and quality of life.
July 2023 in “JCEM Case Reports” A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.
January 2022 in “Exclusive Real World Evidence Journal” A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
May 2012 in “Research and reports in neonatology” The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
55 citations
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August 2009 in “Journal of Feline Medicine and Surgery” Cats with adrenal tumors may have both hyperaldosteronism and hyperprogesteronism.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
14 citations
,
January 2020 in “Korean Journal of Family Medicine” Early diagnosis of leprosy is crucial to prevent disabilities and spread, even in non-endemic areas.
6 citations
,
January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
5 citations
,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
3 citations
,
March 2023 in “National Journal of Health Sciences” Platelet Rich Plasma (PRP) therapy may help heal diabetic foot ulcers.
3 citations
,
March 2012 in “Actas Dermo-Sifiliográficas” An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
1 citations
,
September 2024 in “Reports of Vinnytsia National Medical University” Urticaria patients have different skinfold thickness patterns compared to healthy individuals, with some variations between men and women.
1 citations
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September 2021 in “Physiology News” The authors suggest standardizing how the heart's electrical axis is calculated to improve precision and consistency in ECG analysis.
December 2025 in “Journal of Clinical Medicine” Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
August 2024 in “Journal of Small Animal Practice” A cat lost hair on its back a month after a road accident, despite no initial skin injuries.
February 2024 in “Sučasna gastroenterologìâ” The patient was diagnosed with celiac disease after a long delay, showing the need for better awareness and earlier detection.
January 2021 in “ABC Heart Failure & Cardiomyopathy” A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
201 citations
,
April 2017 in “Regeneration” Macrophages and fibroblasts help repair organs after injury, affecting whether they regenerate or scar.
144 citations
,
June 2008 in “Cell Cycle” Hair follicle stem cells can help repair spinal cord injuries and improve walking.
33 citations
,
February 2024 in “International Journal of Molecular Sciences” Understanding fibroblast issues in diabetic foot ulcers is key to creating better treatments.
32 citations
,
February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
31 citations
,
April 2010 in “British journal of dermatology/British journal of dermatology, Supplement” Frontal fibrosing alopecia can cause sudden hair loss on limbs, similar to scalp hair loss.
31 citations
,
December 1997 in “Developmental Medicine & Child Neurology” Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.