January 2013 in “Journal of dermatology” A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
12 citations
,
June 2009 in “Journal of Cosmetic Dermatology” Loose Anagen Hair syndrome occurs in dark-skinned children and often improves on its own.
32 citations
,
July 2017 in “Dermatology practical & conceptual” New hair and skin changes were found in a rare case of syphilis-related hair loss.
6 citations
,
March 2018 in “Proceedings - Baylor University. Medical Center” Sarcoidosis can cause severe high calcium levels, hair loss, and kidney failure.
May 2026 in “Journal of International Medical Research” Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
December 2025 in “Philippine Journal of Internal Medicine” Early recognition and tailored treatment are crucial for managing overlapping systemic lupus erythematosus and systemic sclerosis.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
1 citations
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January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
28 citations
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October 2013 in “Journal of The American Academy of Dermatology” Ovarian SAHA syndrome makes women with PCOS more resistant to insulin and increases their risk of blood sugar problems.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
3 citations
,
January 2019 in “Case Reports in Ophthalmology” VKHD and sarcoidosis may share a common cause.
23 citations
,
August 1983 in “PubMed” Clq deficiency is linked to systemic lupus erythematosus symptoms.
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.
37 citations
,
March 1998 in “Lupus” Aggressive SLE treatment helped hair regrowth and improved oral plaque, but scalp lesions stayed.
January 2025 in “NATIONAL BOARD OF EXAMINATIONS JOURNAL OF MEDICAL SCIENCES” Dermoscopy is useful for accurately diagnosing syphilitic alopecia.
June 2025 in “Neurology India” Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.
1 citations
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January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
59 citations
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November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
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.
7 citations
,
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.
18 citations
,
November 2018 in “Annals of the Academy of Medicine Singapore” Sulfasalazine can cause severe allergic reactions leading to long-term autoimmune issues like hair loss and skin discoloration.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
17 citations
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May 1987 in “Clinical and Experimental Dermatology” A patient with Sézary syndrome showed improvement after treatment and the study suggested follicular mucinosis might indicate future lymphoma risk.