June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
2 citations
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July 2019 in “Indian dermatology online journal” This report documents a rare case of familial eyelash trichomegaly and synophrys in three siblings, with one sister also having loose anagen hair syndrome, an unreported association.
1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
July 2023 in “Journal of Ayub Medical College Abbottabad” This case study details a 30-year-old woman diagnosed with Lupus Vasculitis, presenting with symptoms like intermittent fever, joint pain, and respiratory issues, after tests revealed specific antibody patterns and reduced complement levels, leading to treatment with steroids, mycophenolate mofetil, and hydroxychloroquine.
January 2023 in “Revista Paulista de Pediatria” This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This study documented a case of an 11-month-old with PKU who developed acrodermatitis enteropathica-like symptoms due to severe phenylalanine deficiency, requiring dietary adjustment to restore phenylalanine levels.
3 citations
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May 2024 in “International Journal of Dermatology” In this study, pediatric pemphigus was found to have a chronic but mostly benign progression, with initial remission from corticosteroids typically requiring additional immunomodulators for long-term control, and the authors advocate for using rituximab in these cases.
May 2025 in “The Journal of Rheumatology” This case report details a 56-year-old woman's diagnosis with an overlapping syndrome of dermatomyositis, systemic lupus, and secondary antiphospholipid syndrome, highlighted by purpura fulminans, treated successfully with immunosuppressants and plasmapheresis.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
In this case report, a 59-year-old woman experienced burning sensations and developed atrophic, hypopigmented, ivory papules and plaques on her palms and soles over three years, which worsened after walking for extended periods.
13 citations
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June 2020 in “International Journal of Dermatology” This review discusses erosive pustular dermatosis of the scalp, highlighting its wide variety of causes and multiple effective treatment options beyond high-potency topical steroids, and reports no new clinical results.
13 citations
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November 2009 in “Journal of Dermatological Science” This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
September 2024 in “Dermatologica Sinica” This study reported a rare case of pityriasis rubra pilaris-like skin reaction in an 18-year-old woman after starting ponatinib treatment for relapsed Philadelphia chromosome-positive acute lymphoblastic leukemia, which resolved after treatment adjustment and did not recur over 15 months.
July 2013 in “Indian Journal of Dentistry” This report describes a rare case of Graham-Little–Piccardi–Lassueur syndrome in a 46-year-old male, highlighting its typical features such as scarring alopecia and lichenoid follicular eruptions.
May 2025 in “International Journal of Science and Research (IJSR)” In this case report, azathioprine induced sudden hair loss and pancytopenia in a 42-year-old female patient, but discontinuing the drug and providing supportive care resulted in complete recovery and hair regrowth within 2.5 months.
3 citations
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January 2015 in “Indian journal of paediatric dermatology” This case report describes an 18-month-old male with ichthyosis follicularis alopecia photophobia syndrome who experienced transient improvement in skin symptoms after oral isotretinoin treatment.
January 2025 in “Clinical Case Reports” This case study details the successful treatment of macrophage activation syndrome with dexamethasone and cyclosporine in a 36-year-old woman with adult-onset Still's disease, highlighting the critical importance of timely aggressive treatment.
January 2025 in “SAGE Open Medical Case Reports” This case report described a patient with erosive pustular dermatosis of the scalp who was resistant to multiple treatments, suggesting that combination therapy may be more effective than monotherapy for managing refractory cases of this condition.
2 citations
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March 2011 in “International Journal of Dermatology” This case report describes an 18-year-old male with IFAP syndrome, confirmed by total hair loss, severe photophobia, and characteristic skin changes, marking a rare presentation of the condition.
January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
3 citations
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January 2019 in “Journal of Dermatology” This letter to the editor discusses the natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family but does not present new clinical results.
20 citations
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October 2003 in “The Journal of Dermatology” This study observed that while dexamethasone-cyclophosphamide pulse therapy is relatively free from hypertension and diabetes compared to conventional steroids in pemphigus patients, it frequently causes generalized weakness and flushing.
34 citations
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July 2013 in “Clinical Cosmetic and Investigational Dermatology” This study observed that while topical drug therapy for erosive pustular dermatosis rarely leads to complete resolution, surgery may achieve remission in male patients.
1 citations
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July 1973 in “British Journal of Dermatology” The document concludes that secondary syphilis cases are increasing and often misdiagnosed, pityriasis rubra pilaris can be distinguished from psoriasis by skin cell features, and different skin layers produce specific components during skin repair.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
1 citations
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September 2002 in “European Journal of Endocrinology” This case study reports the clinical features of triple H syndrome in a 25-year-old man, including ACTH deficiency, alopecia universalis, and anterograde amnesia, which were improved with hydrocortisone treatment.
October 2015 in “Reactions Weekly” A woman got a scalp condition from using latanoprost, but it improved after stopping the drug and starting other treatments.
September 2024 in “Journal of the American Academy of Dermatology” In this case report, a 53-year-old woman with Little-Graham-Piccardi-Lassueur-Syndrome responded well to a treatment regimen of hydroxychloroquine, methotrexate, and other therapies, effectively halting the progression of this rare dermatosis characterized by alopecia and hyperkeratotic eruptions.
January 2025 in “Frontiers in Immunology” This case report details a rare instance of a young male with coexisting autoimmune polyendocrine syndrome type 2 and anti-GAD65 antibody-associated stiff person syndrome, where symptoms improved by adding intravenous immunoglobulin therapy, emphasizing the importance of awareness for early diagnosis and treatment.
72 citations
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October 1992 in “Archives of Dermatology” This study describes five patients whose cystic fibrosis was initially indicated by a rash associated with protein-energy malnutrition, highlighting the importance of early symptom recognition for timely diagnosis and treatment.