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.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
1 citations
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February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
May 2025 in “The Journal of Rheumatology” Early recognition and management of gastrointestinal tuberculosis in lupus patients are crucial to prevent complications.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
10 citations
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May 1974 in “American journal of diseases of children” The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
December 2025 in “Cureus” Early diagnosis and treatment of calcinosis cutis in lupus patients is crucial due to its rarity and potential complications.
21 citations
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September 2018 in “International journal of women’s dermatology” People with Lichen planopilaris are more likely to have certain autoimmune and endocrine disorders but less likely to have conditions like allergies and diabetes.
1 citations
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July 2021 in “Journal of Skin and Sexually Transmitted Diseases” Lipedema is a painful fat disorder in women that's hard to treat, often worsens with hormonal changes, and requires symptom-focused therapies.
March 2023 in “European journal of internal medicine” The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
12 citations
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January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
October 2021 in “European journal of cancer” Repeated biopsies are crucial for managing lupus panniculitis when initial treatments fail.
November 2022 in “JAAD case reports” The text talks about a rare skin condition causing hair loss and suggests that people with this should also check their lung and heart health.
34 citations
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December 2011 in “The Journal of Dermatology” A unique type of lupus panniculitis causes reversible hair loss on the scalp in East Asians.
18 citations
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June 2014 in “Anais Brasileiros de Dermatologia” Clouston Syndrome can be linked to rare sweat gland tumors.
January 2022 in “Exclusive Real World Evidence Journal” A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
January 2022 in “Indian Journal of Paediatric Dermatology” A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
February 2025 in “Indian Dermatology Online Journal” Pincer nails are rare in lupus patients and may be managed conservatively.
June 2025 in “Judi Clinical Journal” Multiple pilonidal sinuses can be successfully treated with a mix of surgery and conservative care.
September 2024 in “Journal of the American Academy of Dermatology” Seborrheic dermatitis affects quality of life and sleep, linked to stress and nervous system changes.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
37 citations
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October 2015 in “Anais Brasileiros de Dermatologia” Lichen planopilaris mostly affects women with fair skin and can look different on each person, needing early treatment to prevent hair loss.
3 citations
,
March 2019 in “American Journal of Dermatopathology” Recognizing rare tumor combinations is crucial for accurate diagnosis and treatment.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
February 2021 in “Pakistan Armed Forces Medical Journal” A rare skin condition usually found near the eyes was found on a farmer's scalp.
September 2025 in “Indian Journal of Child Health” Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.