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.
November 2005 in “NEJM Journal Watch” Hair count is important to distinguish between genetic hair thinning (Androgenetic Alopecia) and hair thinning caused by disrupted hair growth (Chronic Telogen Effluvium).
32 citations
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February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
4 citations
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May 2021 in “Dermatologic Clinics” The conclusion is that hair loss in women is caused by a mix of hormonal, environmental, and genetic factors, and treatments should target these various causes.
4 citations
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May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
4 citations
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January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
3 citations
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August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
3 citations
,
January 2014 in “Indian dermatology online journal” A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
1 citations
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November 2022 in “Journal of pharmaceutical negative results” Alopecia areata is an autoimmune condition causing patchy hair loss, with treatments focusing on immune system regulation and hair regrowth.
1 citations
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November 2022 in “International journal of trichology” A girl with a rare skin condition improved after one month of treatment with acitretin.
1 citations
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June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
1 citations
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September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
1 citations
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January 2004 in “Elsevier eBooks” Polycystic Ovarian Syndrome (PCOS) is a common condition causing fertility issues and other symptoms, with unclear causes and treatments focused on improving insulin sensitivity.
May 2026 in “Journal of Skin and Sexually Transmitted Diseases” Upadacitinib effectively treats skin conditions like eczema and psoriasis and is becoming more widely used and affordable.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
June 2023 in “World Journal of Biology Pharmacy and Health Sciences” Acne is a common skin condition treated with creams, antibiotics, and emerging therapies, and it can significantly affect mental well-being.
January 2019 in “Clinical neuropharmacology” A girl's hair-pulling condition improved greatly after she started vitamin D treatment.
February 2018 in “InTech eBooks” PCOD is a complex condition with unclear causes and varied treatments.
138 citations
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June 2023 in “Molecules” Skin pigmentation varies due to genetics, UV exposure, and drugs, with treatments available but requiring medical advice.
56 citations
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October 2018 in “Journal of The American Academy of Dermatology” Androgens play a complex role in skin conditions like acne and hair loss in women, and normal blood levels don't always show true androgen status.
52 citations
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June 1981 in “International Journal of Dermatology” Oral retinoids are effective for severe skin conditions but require careful use due to side effects.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
23 citations
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February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
19 citations
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March 1988 in “International Journal of Dermatology” Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
15 citations
,
April 2008 in “Headache” People with migraines often have mental health conditions, and treatment should be personalized to address both issues safely.
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.
3 citations
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January 2020 in “JAAD Case Reports” A girl had two rare hair conditions that helped understand their overlap.