124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
4 citations
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January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
26 citations
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April 2007 in “Journal of clinical oncology”
May 2014 in “Clinical and Experimental Dermatology” A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
1 citations
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July 2022 in “BMJ Case Reports” A woman was wrongly diagnosed with lupus but actually had leprosy.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
Improved nutrition quickly healed the patient's skin lesions.
4 citations
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May 2020 in “The journal of pediatrics/The Journal of pediatrics” A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
5 citations
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September 2021 in “Clinical case reports” GLPLS is a rare skin condition with specific hair loss and skin symptoms.
February 2016 in “Acta Medica Marisiensis” A woman with chronic hepatitis C had a rare skin condition linked to her illness.
October 2023 in “International Journal of Science and Research (IJSR)” Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
July 2021 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Monilethrix causes different levels of hair loss in family members.
January 2021 in “American journal of dermatological research and reviews” The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
A woman in Sri Lanka was diagnosed with lupus after presenting with protein loss from the gut and other symptoms.
27 citations
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June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
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.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
32 citations
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August 1982 in “Journal of the American Academy of Dermatology” GLPLS and LPP are variants of lichen planus.
3 citations
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August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
3 citations
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June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
12 citations
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November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
5 citations
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August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.