16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
April 2020 in “Journal of the Endocrine Society” Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
November 2025 in “Cureus” A young man had a rare skin condition causing hair loss and forehead lesions.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
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.
March 2018 in “Dermatologic Surgery” 15 citations
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January 2018 in “Journal of Cutaneous Medicine and Surgery” It's important to understand the differences between FMF and PFM in children.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
October 2024 in “Journal of the Endocrine Society” Sheehan syndrome can cause hormone deficiencies after childbirth, but treatment can improve symptoms.
7 citations
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June 2018 in “Archives of Rheumatology” A woman with lupus developed rare skin growths that went away on their own.
9 citations
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February 2002 in “International Journal of Dermatology” The patient's symptoms improved with treatment but recurred when the steroid dose was reduced, requiring ongoing therapy.
1 citations
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January 2013 in “The Journal of Dermatology” A skin condition called pyodermatitis vegetans was found in a patient with multiple myeloma for the first time.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
5 citations
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January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
5 citations
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August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
7 citations
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January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.
19 citations
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January 2011 in “International journal of trichology” A 3-year-old boy had a rare hairball condition usually seen in teenage girls.
1 citations
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January 2014 SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
13 citations
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March 2018 in “Pediatric Dermatology” Children with short anagen syndrome usually see their hair condition improve as they get older.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
January 2024 in “JAAD case reports” MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
62 citations
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
January 2026 in “British Journal of Clinical Pharmacology” Serenoa repens may cause long-lasting sexual and psychiatric side effects.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
29 citations
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July 2008 in “British Journal of Dermatology” The patient had paraneoplastic pemphigus without mucosal involvement.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.