January 2017 in “Open Journal of Endocrine and Metabolic Diseases” The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
40 citations
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November 1966 in “Archives of Dermatology” Trichorrhexis nodosa is mainly caused by hair trauma and improves with gentler hair care.
July 2025 in “Journal of Investigative Dermatology” Androgens reduce THY1 in skin cells, leading to less fat, more fibrosis, and worse healing in males.
14 citations
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January 2014 in “Annals of Dermatology” Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.
September 2016 in “Journal of dermatological science” TSC2 is crucial for proper hair follicle development and patterning.
August 2025 in “Skin Appendage Disorders” Topical minoxidil can help improve hair in trichonodosis.
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
97 citations
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December 2011 in “New England Journal of Medicine” The FDA did not approve certain drugs for prostate cancer prevention due to concerns about their effectiveness and potential risks.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
21 citations
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April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
1 citations
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July 2022 in “Вопросы современной педиатрии” Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
8 citations
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January 2008 in “European Journal of Pediatrics” Children with autoimmune gastritis showed improved intestinal health over time and should be checked for other autoimmune conditions.
2 citations
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February 2021 in “Endocrinology, diabetes & metabolism case reports” A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
4 citations
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February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
11 citations
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March 2019 in “EMBO molecular medicine” A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
15 citations
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May 2013 in “Ophthalmic Plastic and Reconstructive Surgery” Botulinum toxin injections greatly reduced pain in Parry-Romberg syndrome.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
January 2001 in “Biomedical Research” THH and PAD type III appear together early in hair growth, but deiminated THH appears later, suggesting another factor is involved.
3 citations
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March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
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.
July 2025 in “Indian Dermatology Online Journal” Trichotillomania incognita can mimic hair loss patterns and requires careful diagnosis to avoid misdiagnosis.
6 citations
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August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
264 citations
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October 1958 in “Archives of Dermatology” A 4-year-old girl has a rare hair condition causing fragile, short hair.
December 2023 in “Research Square (Research Square)” People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.