13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
46 citations
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October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
5 citations
,
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.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
February 2025 in “Cermin Dunia Kedokteran” ADEM is a sudden brain disorder often following infection or vaccination, diagnosed by ruling out other conditions.
109 citations
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October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
91 citations
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March 2011 in “Stem Cell Reviews and Reports” Human epidermal neural crest stem cells can become bone and skin pigment cells, making them useful for therapies.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
14 citations
,
May 2008 in “Journal of Visualized Experiments” Mouse epidermal neural crest stem cells can become various cell types and are easily obtained from hair follicles.
September 2009 in “Pediatric Dermatology” UVB is good for a skin condition in Asian kids, a lotion works for head lice, a drug helps with a skin blistering disorder, a foam reduces itchiness in skin inflammation, birthmarks can be more widespread, and criteria for a neurocutaneous disorder were agreed upon.
31 citations
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December 2022 in “Cold Spring Harbor Perspectives in Biology” Understanding cell transitions can lead to better wound healing treatments.
122 citations
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June 1998 in “PubMed” Neurotrophins regulate nerve growth by balancing promotion and suppression.
December 2022 in “Stem Cells and Development” Exosomes from stem cells help improve nerve repair in rats.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.
25 citations
,
November 2020 in “Proceedings of the National Academy of Sciences” HoxC genes are crucial for normal hair and nail development.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
41 citations
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December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
3 citations
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November 2018 in “Curēus” The cause and importance of misplaced oil glands in the hair follicle are not well understood.
1 citations
,
February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
34 citations
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January 1998 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Trichoblastomas may mimic fetal skin development by having many Merkel cells, unlike adult skin.
3 citations
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May 2023 in “Pediatric Dermatology” A 9-year-old boy had a rare scalp condition usually seen in young men.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
87 citations
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June 2010 in “Stem Cell Research & Therapy” Stem cells can move to brain injury sites and be tracked, showing promise for treating brain diseases.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
3 citations
,
March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.