May 2020 in “International Journal of Dermatology and Venereology” Calcified epidermal cysts are rare, hard skin nodules that are best treated with surgical removal.
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
5 citations
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January 2009 in “International Journal of Trichology” Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
33 citations
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November 2006 in “Survey of Ophthalmology” Madarosis is the loss of eyelashes and eyebrows due to various health issues and requires thorough examination to diagnose and treat the underlying cause.
14 citations
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January 2018 in “Skin Appendage Disorders” Upper eyelid hyperpigmentation can help diagnose facial lichen planus pigmentosus in patients with frontal fibrosing alopecia.
July 2025 in “Dermatology Practical & Conceptual” Topical eyedrops may cause eyelash whitening and skin lightening around the eyes.
1 citations
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January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
3 citations
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February 2018 in “Aesthetic plastic surgery” The Locked Cheek Lift is a simple, effective method for cheek and lower eyelid rejuvenation with a high success rate and minimal complications.
113 citations
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June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
40 citations
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July 2019 in “Journal of Investigative Dermatology” Lack of a key enzyme causes severe skin issues and death in mice.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
160 citations
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January 2014 in “Seminars in cell & developmental biology” Early development of hair, teeth, and glands involves specific signaling pathways and cellular interactions.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
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 2013 in “Journal of the American Academy of Dermatology” Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
15 citations
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September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
June 2025 in “Veterinary Sciences” Oclacitinib effectively treated a diabetic cat's severe skin issues without raising glucose levels, and surgery fixed eyelid fusion.
2 citations
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January 2022 in “International journal of trichology” Eruptive vellus hair cysts are often missed in diagnoses.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
7 citations
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March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
September 2007 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
December 2025 in “Journal of Clinical Medicine” Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.