April 2018 in “Veterinary Pathology” This study describes a form of lymphocytic mural folliculitis in tigers causing hair loss, concluding it may represent a nonspecific hypersensitivity reaction distinct from T-cell lymphoma.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
6 citations
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May 2012 in “Pediatric Dermatology” This article shares a case of Satoyoshi syndrome that was misdiagnosed as vitamin D-dependent rickets for several years.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
1 citations
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January 2018 in “Indian dermatology online journal” This case report describes a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses.
19 citations
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February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
3 citations
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January 2020 in “JAAD Case Reports” This report describes a patient with symptoms suggestive of both loose anagen hair syndrome and uncombable hair syndrome, adding to previous instances of overlapping features between these conditions.
19 citations
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October 1996 in “International Journal of Dermatology” This study concluded that pseudopelade is an autosomal dominant condition, distinct from other forms of alopecia, characterized by atrophic hair follicle loss and notable familial association.
February 2022 in “Authorea (Authorea)” This report presents a case of a seven-year-old girl with porokeratotic adnexal ostial nevus manifesting as hyperkeratotic verrucous papules on her left foot.
17 citations
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January 2011 in “Indian journal of dermatology, venereology, and leprology” This paper describes a rare case of keratosis follicularis spinulosa decalvans in a nine-year-old girl, a condition typically more severe in males due to its X-linked inheritance.
September 2012 in “Turkish Journal of Dermatology” In this case report, a 17-year-old with systemic lupus erythematosus showed improvement in erythema multiforme-like lesions after treatment with methylprednisolone.
2 citations
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January 2008 in “International Journal of Neuroscience” This article presents a case of delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old man and reviews clinical and laboratory findings associated with the disorder, reporting no new results.
This case report describes a 40-year-old man with four autoimmune diseases leading to MAS, and suggests an additional classification category for MAS including autoimmune hypothyroidism, alopecia universalis, celiac disease, and immune thrombocytopenic purpura.
67 citations
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May 2019 in “British Journal of Dermatology” In this study, newly diagnosed women with mycosis fungoides or Sézary syndrome and those with alopecia experienced significantly poorer health-related quality of life.
September 2025 in “Cureus” In this case study, a 24-year-old female with Parry-Romberg syndrome showed significant craniofacial asymmetry, delayed dental development, and other symptoms without neurological deficits; orthodontic treatment is used to improve occlusion and facial balance.
1 citations
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May 2022 in “Frontiers in Psychiatry” In this case study, a 33-year-old female with neuropsychiatric systemic lupus erythematosus experienced hair regrowth with no further loss after receiving a combination of systemic and local treatments.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
February 2021 in “PubMed” This case report presents a 2-year-old girl with type B loose anagen syndrome diagnosed through a painless hair pull test, avoiding unnecessary further tests or referrals.
1 citations
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November 2022 in “Journal of the Academy of Consultation-Liaison Psychiatry” This case study reports on a 44-year-old male exhibiting persistent neuropsychiatric symptoms described as Post-Finasteride Syndrome after discontinuing long-term finasteride use, highlighting the ongoing debate regarding its classification as a true disease process.
June 2023 in “International Journal of Dermatology” This study reviewed 41 cases of lichen planus pigmentosus in patients from southeastern Tunisia, highlighting its prevalence among older individuals and notable differences compared to patterns observed in an Indian cohort.
3 citations
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May 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This report highlights the diagnostic challenge of distinguishing autoimmune hepatitis from visceral leishmaniasis in children, revealing the importance of excluding infectious causes closely mimicking autoimmune features before initiating immunosuppressive therapy.
April 2024 in “Anais Brasileiros de Dermatologia” 15 citations
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April 2016 in “Medicine” This study reports that systemic lupus erythematosus patients with Evans syndrome often exhibited photosensitivity, hypocomplementemia, and elevated serum IgG, while lupus nephritis was less common, suggesting distinct clinical features.
12 citations
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October 2001 in “Pediatric Dermatology” This case report describes a 9-year-old Thai girl with Satoyoshi syndrome, where oral corticosteroid therapy significantly improved her painful muscle spasms and alopecia.
24 citations
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June 1999 in “The Pediatric Infectious Disease Journal” In this case report, a 2-year-old boy initially diagnosed with Sweet syndrome was later found to have chronic granulomatous disease, highlighting the importance of considering CGD in unusual cases of Sweet syndrome.
6 citations
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April 2015 in “Infection” This case study describes a patient with secondary syphilis, including alopecia syphilitica diffusa, whose symptoms resolved completely after treatment with benzylpenicillin following prednisolone prophylaxis.
May 2025 in “Frontiers in Genetics” This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.
1 citations
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January 2015 in “Annals of Dermatology” This case report describes a 52-year-old woman who developed retiform purpura after using cocaine likely adulterated with levamisole, highlighting the need for levamisole detection in such cases.
February 2023 in “Journal of dermatology” This letter reports the first known Japanese case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene.
10 citations
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January 1994 in “Annals of Internal Medicine” This case report presents a young woman with systemic lupus erythematosus who was found to have CD4+ lymphocytopenia.