9 citations
,
October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
1 citations
,
March 2022 in “Frontiers in Medicine” This case report highlights a rare instance of esophageal carcinoma in a patient with Cronkhite-Canada syndrome, emphasizing the importance of endoscopic surveillance for malignant gastrointestinal tumors in these patients.
3 citations
,
October 2021 in “Turkish Journal Of Neurology” This study identifies novel genetic variants in the NOTCH3 and HTRA1 genes associated with CADASIL and CARASIL, highlighting their potential in supporting clinical diagnosis and informing treatment strategies.
24 citations
,
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.
9 citations
,
February 2012 in “Clinical Neurology and Neurosurgery” In this paper, three APS patients were followed over time, showing that the diagnosis and course of autoimmune polyglandular syndrome can evolve, highlighting the need for careful monitoring and potential re-evaluation.
June 2026 in “The Journal of Dermatology”
1 citations
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October 2021 in “International Journal of Research in Dermatology” This study found that alopecia areata can affect individuals across various ages but is predominantly observed in males aged 21-40, and may be linked to autoimmune diseases, thyroid issues, and inflammation.
January 2025 in “Figshare” In this case study, a 17-month-old girl experienced sudden hair depigmentation during septic shock hospitalization, suggesting systemic stress as a potential trigger for pediatric canities subita associated with diffuse alopecia areata.
37 citations
,
January 1979 in “Archives of Dermatology” This case report suggests that PUVA treatment may have played a role in triggering systemic lupus erythematosus in a 23-year-old woman with psoriasis.
In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.
5 citations
,
January 2024 in “Therapeutic Advances in Hematology” This report suggests an association between eosinophilic folliculitis and sustained complete response in a Sézary syndrome patient treated with mogamulizumab, although regular monitoring is necessary to prevent relapse.
7 citations
,
November 2021 in “JAAD Case Reports” This study highlights that although mogamulizumab is highly effective for treating mycosis fungoides and Sézary syndrome, it frequently causes a variety of rashes as side effects.
April 2021 in “Authorea (Authorea)” In this case report, a woman with segmental vitiligo and hemifacial atrophy showed signs of stabilization after treatment with chloroquine and betamethasone pulse, suggesting a common underlying cause for these dermatoses.
22 citations
,
November 2018 in “Anti-Inflammatory & Anti-Allergy Agents in Medicinal Chemistry” This study reviewed the initial clinical presentation of SLE patients in Oman, revealing diverse symptoms and highlighting the importance of nationwide collaboration for effective management of the condition.
4 citations
,
June 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” This case report describes a 30-year-old woman diagnosed with both Rhupus and Rowell syndromes, and details her presentation and treatment plan, without reporting specific treatment outcomes.
11 citations
,
October 2021 in “Orphanet journal of rare diseases” This study found that patients with RASopathies have lower serum IgA and CD8 levels compared to controls, indicating a potential risk for developing autoimmune disorders.
129 citations
,
November 2005 in “Internal Medicine Journal” This article reviews the recognition and management of Staphylococcus aureus toxin-mediated diseases, but it does not present new research findings.
In this case study, a 70-year-old male with lymphoid variant hypereosinophilic syndrome presented with rare isolated pulmonary involvement, which improved with prednisone treatment.
April 2020 in “Journal of the Endocrine Society” This case report describes a 34-year-old woman with pituitary stalk interruption syndrome, highlighting the need for long-term follow-up due to potential progression from isolated hormonal deficiencies to pan-hypopituitarism.
2 citations
,
August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
February 2024 in “Curēus” In this case report, secukinumab therapy for spondyloarthritis was associated with the development of alopecia areata in a 46-year-old woman, which improved after discontinuing the medication.
53 citations
,
May 1995 in “Journal of The American Academy of Dermatology” This article describes two cases where essential alopecia was the initial sign of syphilitic infection, examining the clinical and histopathologic features observed.
18 citations
,
June 2014 in “Anais Brasileiros de Dermatologia” This case report describes a patient with Clouston Syndrome who developed eccrine syringofibroadenoma, marking only the fourth such association documented in existing literature.
5 citations
,
January 2014 in “Indian Journal of Nephrology” This case report describes a 30-year-old woman with systemic lupus erythematosus who was successfully treated for recurrent hypokalemic periodic quadriparesis after being diagnosed with distal tubular acidosis.
39 citations
,
October 2010 in “Journal of The American Academy of Dermatology” This study reported that alopecia occurred in 2.5% of patients with mycosis fungoides or Sézary syndrome, with some cases resembling alopecia areata and others associated with specific skin lesions.
4 citations
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May 2014 in “European Journal of Dermatology” This study found that severe androgenetic alopecia was associated with metabolic syndrome components in male psoriatic patients, particularly those over 59 years old, suggesting the need for regular screening.
3 citations
,
October 2019 in “JAAD Case Reports” This review discusses different forms and patterns of alopecia associated with lupus erythematosus and reports no new clinical results; the authors highlight distinct features of these conditions.
4 citations
,
January 2023 in “Clinics” This commentary reports the first case of small fiber neuropathy, mast cell activation syndrome, and pericarditis following mRNA-based SARS-CoV-2 vaccination in a previously healthy 66-year-old woman.
3 citations
,
February 2022 in “Cureus” This study observed an alopecia syphilitica-like pattern of hair loss in a woman with frontal fibrosing alopecia, suggesting it may be another atypical presentation of the condition.
21 citations
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June 2010 in “Anais Brasileiros De Dermatologia” This case report is the first in Brazilian literature to document Becker nevus syndrome, featuring Becker's nevus, ipsilateral breast hypoplasia, and scoliosis in a 14-year-old girl.