November 2019 in “Harper's Textbook of Pediatric Dermatology” Children with metabolic syndrome often have skin problems like dark patches, skin tags, stretch marks, infections, acne, and psoriasis, which are linked to obesity and insulin resistance.
1 citations
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January 2009 in “Kidney International” The woman was diagnosed with systemic lupus erythematosus (SLE) after initial misdiagnosis and improved with proper treatment.
5 citations
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October 2003 in “PubMed” Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
January 2025 in “International Journal of Dermatology” Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
September 2024 in “Pediatrics in Review” A trichobezoar caused the girl's recurrent intussusception, and surgery plus psychiatric therapy resolved her symptoms.
SLE should be considered in unexplained fevers, even in males.
January 2025 in “Indian Journal of Dermatopathology and Diagnostic Dermatology” Dermoscopy helps diagnose rare GLPLS in males.
32 citations
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April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
27 citations
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May 2002 in “The Journal of Clinical Endocrinology & Metabolism” Brothers of women with PCOS tend to have higher levels of a hormone called DHEAS, indicating a possible genetic link.
January 2025 in “Clinical Case Reports” Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
8 citations
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December 2015 in “JAMA ophthalmology” A young man had vision loss, hair loss, and other symptoms, but tests showed mostly normal results except for slightly high protein in spinal fluid.
8 citations
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August 2009 in “Pediatric transplantation” A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.
February 2013 in “Journal of the American Academy of Dermatology” Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
February 2024 in “Rheumatology & autoimmunity” Lupus can cause unusual vision problems, so it's important to consider it in such cases.
9 citations
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December 2015 in “Journal of Dermatological Case Reports” Narrowband UVB therapy significantly improved a child's rare skin condition.
27 citations
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February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
7 citations
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January 2012 in “International Journal of Trichology” A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
45 citations
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January 2006 in “Endocrine journal” To diagnose Polycystic Ovarian Syndrome, two out of three signs—irregular periods, high male hormone levels, or cysts on the ovaries—are needed.
42 citations
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May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
16 citations
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January 2005 in “Pediatric Dermatology” A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.
1 citations
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November 2022 in “Journal of the Academy of Consultation-Liaison Psychiatry”
9 citations
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January 2005 in “Pediatric Dermatology” Fox Fordyce disease can occur in prepubertal girls and may be underdiagnosed.
10 citations
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January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
179 citations
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
January 2016 in “대한피부과학회지” Bortezomib chemotherapy can cause temporary skin rashes.
July 2021 in “British Journal of Dermatology” A woman with systemic sclerosis developed a unique scarring hair loss combining features of systemic sclerosis and frontal fibrosing alopecia.