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.
39 citations
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July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
October 2025 in “BMC Pediatrics” Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
October 2025 in “The Sri Lanka Journal of Dermatology” SJS and TEN can cause long-term organ damage and psychological issues beyond skin and eye problems.
August 2023 in “Rheumatology” Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
3 citations
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January 2019 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Idiopathic hirsutism is the most common cause, followed by PCOS, and insulin resistance should be checked in patients with acanthosis nigricans.
January 1991 in “Linchuang pifuke zazhi” October 2025 in “Journal of the Endocrine Society” A postmenopausal woman had rare symptoms due to a possible ovarian tumor, needing thorough evaluation.
33 citations
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May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
1 citations
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January 2008 May 2021 in “Biomedical Journal of Indonesia” Lupus hepatitis can affect male SLE patients and is treatable with specific medications.
January 2026 in “Frontiers in Immunology” Timely treatment of eosinophilic asthma in rheumatic disease patients can prevent organ damage.
5 citations
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January 2020 in “Wiadomości lekarskie (Warsaw Poland)” Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
5 citations
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January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
3 citations
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January 2014 in “The Journal of Dermatology” Squaric acid dibutylester for alopecia areata can cause benign skin lymphoid growths.
66 citations
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September 2008 in “The Journal of Dermatology” Gastrointestinal issues are important risk factors for sebaceous gland diseases in Han adolescents.
4 citations
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May 2008 in “Clinics in Dermatology” Skin problems can indicate different diseases inside the body.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
February 2020 in “Open Access Macedonian Journal of Medical Sciences” The patient with severe hirsutism improved after being diagnosed with non-classic congenital adrenal hyperplasia and treated with corticosteroids.
October 2024 in “Journal of the Endocrine Society” A single steroid injection can cause serious side effects like Cushing Syndrome.
April 2026 in “Journal of Cutaneous Pathology” Alopecia can be caused by multicentric reticulohistiocytosis.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
May 2011 in “Journal of pediatric nursing” A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
15 citations
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May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
1 citations
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October 2022 in “Rheumatology” RHUPUS should be considered in children with deforming arthritis.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.