September 2024 in “Annals of Dermatology” A new diagnostic model can help better diagnose and understand Alopecia Areata.
November 2020 in “Acta Medica Bulgarica/Acta medica Bulgarica” The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
6 citations
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November 1980 in “Clinical Endocrinology” Measuring plasma testosterone glucosiduronate is a reliable way to detect high male hormone levels in women.
October 2013 in “International Journal of Pediatric Endocrinology/International journal of pediatric endocrinology” A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
1 citations
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November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
3 citations
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May 2008 in “Journal of Clinical Oncology” Panitumumab treatment can cause unusual hair growth in some colorectal cancer patients.
March 2009 in “European Urology Supplements”
5 citations
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March 2009 in “Pediatric Dermatology” The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
11 citations
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December 2011 in “The Journal of Dermatology” 7 citations
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April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
1 citations
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September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
September 2024 in “Dermatology Reports” Sonidegib often causes hair loss, and LC-OCT helps identify early signs.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
June 2012 in “Springer eBooks” Skin changes can indicate starvation and nutritional deficiencies in anorexia nervosa.
1 citations
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July 1991 in “PubMed” MRI can show unusual brain changes in adrenomyeloneuropathy.
2 citations
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June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
13 citations
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March 1997 in “Research in Veterinary Science/Research in veterinary science” Epithelial proliferation and hyperkeratosis are linked to gastric ulcers in pigs.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
24 citations
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February 1986 in “Cancer” A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.
March 2024 in “Journal of clinical medicine” Trichoscopy shows hair diameter variability, vellus hairs, and the peripilar sign are key indicators for diagnosing Androgenetic Alopecia.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Sebaceous gland atrophy and abnormal function may contribute to hair loss in psoriasis.
66 citations
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April 1995 in “The journal of cell biology/The Journal of cell biology” A new protein was made to detect specific skin cell growth receptors and worked in normal skin but not in skin cancer cells.
April 2025 in “Revista Digital de Postgrado” Severe malnutrition in young children causes various skin and nail issues, mainly pigmentation changes and extreme thinness.
1 citations
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March 2013 in “British Journal of Dermatology” Recognizing eyebrow hair loss linked to a rare skin condition is crucial for proper treatment.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.