1 citations
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January 2025 in “Pediatria i Medycyna Rodzinna” Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
4 citations
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May 2006 in “médecine/sciences” The hairless gene is crucial for hair health, and its mutations cause hair loss.
October 2025 in “EMJ Dermatology” Histopathology is crucial for accurately diagnosing eruptive vellus hair cysts.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
June 2025 in “V F Snegirev Archives of Obstetrics and Gynecology” A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.
99 citations
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October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
1 citations
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April 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
100 citations
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May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
3 citations
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February 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” A 6-year-old boy developed excessive hair growth after taking diazoxide for low blood sugar.
5 citations
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
January 2023 in “Surgical & Cosmetic Dermatology” The patient quickly recovered from hair loss caused by DRESS syndrome using topical minoxidil.
98 citations
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July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
September 2023 in “Cutis” A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
3 citations
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January 2007 in “Korean Journal of Pediatrics” Zinc supplements can help skin issues even if blood zinc levels are normal.
10 citations
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February 2022 in “JMIR Dermatology” People with Down syndrome often have skin issues and need regular check-ups for early treatment.
4 citations
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January 2025 in “Clinical Cosmetic and Investigational Dermatology” Papular acantholytic dyskeratosis of the vulva is a rare, benign skin condition that can be managed conservatively.
July 2021 in “Scholars Journal of Medical Case Reports” Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
2 citations
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April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
32 citations
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April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
2 citations
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October 2013 in “Journal of Veterinary Internal Medicine” Sweat hypersensitivity can cause severe skin issues in horses.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
26 citations
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December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
4 citations
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June 2021 in “Wounds-a Compendium of Clinical Research and Practice” Chronic scalp lesions with crusts and pus that heal with strong topical steroids suggest Erosive Pustular Dermatosis, confirmed by biopsy showing specific immune cells.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
4 citations
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July 2019 in “Clinical and experimental dermatology” Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
10 citations
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July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.