50 citations
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October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
21 citations
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September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
25 citations
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August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Dopaminergic neurons in the gut have distinct subtypes, some releasing both dopamine and acetylcholine.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
2 citations
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January 2018 in “PubMed” The man's symptoms improved and the tumor shrank after treatment with cabergoline.
6 citations
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January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
October 2019 in “European heart journal” Androgen-deprivation therapies increase the risk of certain heart conditions, but testosterone treatment may help.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
July 2025 in “Journal of Investigative Dermatology” 151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
1 citations
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February 2022 in “Clinical, Cosmetic and Investigational Dermatology” TDM10842, a thyroid hormone receptor activator, was found to effectively promote hair growth in mice.
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December 2008 in “Journal of The American Academy of Dermatology” Finasteride can cause a unique skin reaction on the penile shaft.
13 citations
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April 1997 in “Biochemical and Biophysical Research Communications” Insulin-dependent diabetes alters hair's molecular structure, making it useful for studying diabetes effects.
July 2024 in “Journal of Investigative Dermatology” PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
March 2025 in “The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy” Primary mitochondrial cytopathies often cause skin, endocrine, vision, and blood issues, needing careful diagnosis.
89 citations
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March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
22 citations
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November 2023 in “Molecules” Smart microneedles can deliver drugs painlessly and accurately for diseases like diabetes and tumors.
10 citations
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January 2020 in “Genes & Diseases” Circ-Smad5 slows cell growth by blocking a specific cell signaling pathway.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
April 2019 in “Journal of Investigative Dermatology” Merkel cell carcinoma is most likely to recur within two years of diagnosis, and factors like immune suppression, being over 75, and male sex increase this risk.
49 citations
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July 1994 in “British journal of dermatology/British journal of dermatology, Supplement” Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
Older Julia Creek dunnarts often have reproductive and hormonal health issues.
25 citations
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March 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Vitamin D Receptor is needed for hair growth in mice but not for skin stem cell maintenance.
2 citations
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October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
16 citations
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November 2005 in “Journal of Clinical Pathology” CD1d expression in scalp skin and hair follicles changes with the hair cycle and may help protect against microbes.