October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
55 citations
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
September 2016 in “European Journal of Pediatric Dermatology/PD. European journal of pediatric dermatology” Ulerythema ophryogenes causes hair thinning and inflammation, with limited treatment options.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
January 2023 in “Springer eBooks” Epidermolysis bullosa is an inherited condition causing fragile skin with no cure, managed by wound care and experimental treatments show promise.
16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
5 citations
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January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” Congenital atrichia with papular lesions causes permanent hair loss in children.
3 citations
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January 2004 in “Journal of Wildlife Diseases” A deer fawn in South Dakota was the first cervid found with congenital hypotrichosis, a condition causing sparse or missing hair.
18 citations
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January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
13 citations
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July 2012 in “International Journal of Trichology” TTD symptoms vary widely, requiring thorough evaluations.
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.
2 citations
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January 2016 in “Journal of clinical & experimental dermatology research” Acrodermatitis Enteropathica is a rare skin condition treated effectively with zinc supplements, and early diagnosis is key.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
January 2011 in “Yearbook of Dermatology and Dermatologic Surgery” 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.
40 citations
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February 1946 in “Canadian Journal of Research/Canadian journal of research” Hereditary factors cause hair loss in mice by affecting skin and hair follicle structure.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
4 citations
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January 2010 in “Journal of Veterinary Medical Science” The analyses helped identify different skin diseases in the two dogs.
5 citations
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June 2014 in “Der Hautarzt” Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
63 citations
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April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
December 2025 in “IP Indian Journal of Clinical and Experimental Dermatology”
53 citations
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February 2017 in “Journal of The American Academy of Dermatology” The conclusion is that high-potency steroids or tacrolimus are effective treatments for erosive pustular dermatosis of the scalp.