2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
23 citations
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February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
20 citations
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January 2005 in “Australasian Journal of Dermatology” A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
9 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
2 citations
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December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
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.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
16 citations
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January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
48 citations
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May 2013 in “Canadian Medical Association Journal” Primary cicatricial alopecia, a rare disorder causing permanent hair loss, is hard to diagnose and treat, with treatments like anti-inflammatory drugs and steroids offering varied results and no guaranteed cure. Psychological support for patients is important, and future research should aim to identify causes of the condition.
34 citations
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July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
November 2025 in “Journal of Saidu Medical College Swat” Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
12 citations
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June 2018 in “Journal of Cosmetic Dermatology” PRP is effective for hair loss and might work better with other treatments, but more research is needed.
6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
5 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.
July 2025 in “Journal of Dermatology Research Reviews & Reports” A 10-year-old girl with hair and eyelash loss showed significant regrowth after treatment.
532 citations
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August 2011 in “Journal of the American Academy of Dermatology” Vitiligo is a skin condition causing white spots, more common in women, often starts before age 20, and can affect mental health.
147 citations
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January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
39 citations
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July 2008 in “Dermatologic Therapy” Pseudopelade of Brocq is a unique hair loss condition, but its cause and development are still not fully understood.
2 citations
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January 2014 in “Springer eBooks” The book details skin conditions in older adults, their link to mental health, cancer treatment importance, hair loss remedies, and managing autoimmune and itchy skin.
1415 citations
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October 2007 in “European Journal of Epidemiology” The Rotterdam Study investigates diseases in older adults and has produced many research findings.
19 citations
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April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
3 citations
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September 2022 in “Frontiers in psychiatry” University students in Egypt experienced high stress during COVID-19's third wave, with negative coping mechanisms being more common.