26 citations
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December 2022 in “Journal of the American Academy of Dermatology” Monkeypox skin lesions show full-thickness skin death and swollen skin cells, with the virus found in affected cells.
11 citations
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January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
9 citations
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June 2016 in “The Cerebellum” 2 citations
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January 1998 in “Neurourology and Urodynamics” AMN can cause bladder problems due to nerve damage.
January 2024 in “Arquivos de Neuro-Psiquiatria” Consider THPP in patients with muscle weakness and low potassium, as it is often underdiagnosed.
31 citations
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June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
14 citations
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January 2016 in “Experimental and molecular pathology” Giving immune serum from vaccinated mice to mice without T cells prevents infection and tumor growth.
February 2026 in “Clinical Cosmetic and Investigational Dermatology” A 7-year-old girl experienced temporary hair loss due to radiation, with signs of possible hair regrowth.
6 citations
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November 2015 in “Equine Veterinary Education” A sick foal with Rhodococcus equi pneumonia was successfully treated for multiple complications with targeted therapy and careful monitoring.
6 citations
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February 2020 in “Journal of Cutaneous Pathology” Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
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.
Psychosis can be an early sign of neuropsychiatric lupus, treatable with tailored medication.
28 citations
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January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
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.
1 citations
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January 2024 in “BMJ Case Reports” A woman had meningitis caused by mixed connective tissue disease, not an infection.
52 citations
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February 2009 in “Journal of the American Academy of Dermatology” A 93-year-old woman developed a rare scalp condition after therapy, which improved with steroids, not antibiotics.
1 citations
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May 2024 in “Dermatology Online Journal” Scalp pemphigus vulgaris can be effectively treated with low-dose prednisone and triamcinolone.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
February 2012 in “World Allergy Organization Journal” Alopecia can be a symptom of Neonatal Lupus.
29 citations
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October 2009 in “Pharmacology Biochemistry and Behavior”
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
4 citations
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February 2001 in “PubMed” A medication called sodium valproate likely caused a girl's hair to become kinky and dry.
3 citations
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June 2023 in “Cureus” Pilomatricomas should be considered to avoid misdiagnosis in children with unusual skin tumors.
April 2017 in “Medicina Clínica (english Edition)” A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
February 2013 in “Journal of The American Academy of Dermatology” Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.
15 citations
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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.