March 2026 in “Journal of Investigative Dermatology” This study identified CCCA in 10 children of African descent, highlighting the occurrence of this scarring alopecia in patients under 18 and the importance of early diagnosis for better outcomes.
April 2025 in “Digital Commons - East Tennessee State University (East Tennessee State University)” This study reviewed recent literature on Long COVID, examining cardiopulmonary, dermatological, neurological, and rheumatological symptoms and identifying risk factors like severe initial infection, comorbidities, and lack of prior vaccination.
January 2025 in “JCEM Case Reports” In this case report, researchers described a patient with Cushing's Disease exhibiting no detectable mass, where Metyrapone therapy was effectively used to manage symptoms, suggesting a treatment option for similar diagnostic challenges.
62 citations
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April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
September 2007 in “The American Journal of Gastroenterology” This case report describes a 37-year-old Filipino man with Cronkhite-Canada syndrome who improved after receiving nutritional support and medical treatment, despite the typically poor prognosis of the condition.
December 2024 in “Clinical and Experimental Dermatology” This study found that patients with central centrifugal cicatricial alopecia preferred shared decision-making with their doctors regarding treatment management.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that skin pigmentation alterations in a mouse model of Carney complex may be caused by specific dermal fibroblasts promoting melanogenic signaling.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
8 citations
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May 2024 in “PLoS Biology” This study on feather pattern formation in chicken skin found that inhibiting gap junctional intercellular communication can lead to the emergence of new feather buds in specific spatial patterns, suggesting that GJIC may facilitate Turing-type periodic patterning by propagating inhibitory signals over long distances.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
12 citations
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October 2001 in “British Journal of Ophthalmology” This paper suggests intralesional cidofovir as a potentially effective treatment for SCC with no systemic toxicity observed, but surgical excision remains the standard for its curative outcomes and thorough evaluation.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this open-label trial, Tofacitinib was well tolerated and improved IFN and cytokine scores, as well as overall skin pathology, in individuals with Down syndrome and immune skin conditions.
January 2014 in “International Journal of Case Reports and Images” This case report describes a 62-year-old woman diagnosed with undifferentiated connective tissue disease and renal amyloidosis, presenting symptoms like joint pain, Raynaud's phenomenon, and carpal tunnel syndrome.
February 2026 in “Endokrynologia Polska” This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.
1 citations
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November 2022 in “Journal of the Endocrine Society” This study found that US adults with classic congenital adrenal hyperplasia most preferred a hypothetical adjunctive therapy that prevents glucocorticoid-induced weight gain over other potential benefits.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study emphasizes the genetic component of central centrifugal cicatricial alopecia, highlighting an atypical case involving an adolescent male within an African-American family.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
18 citations
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February 2015 in “Acta Crystallographica Section D: Structural Biology” This study reports that Ca 2+ binding alters the dynamics and surface properties of PKD-like domains in Clostridium histolyticum collagenases, enhancing their stability and potentially aiding in collagen-targeting vehicle development.
3 citations
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April 2023 in “Clinical and Experimental Medicine” This study classified long COVID patients into five symptom clusters and found that clusters 2 and 3 were associated with higher rates of autonomic dysfunction and work absences, respectively.
October 2024 in “Journal of the American Society of Nephrology” This study found that in a large cohort of chronic kidney disease patients, nonprogression or regression of the disease was more common than progression or kidney failure, especially with advancing age.
1 citations
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January 2024 in “Curēus” This case study reported significant clinical improvement in a 26-year-old male with dissecting cellulitis of the scalp after treatment with upadacitinib, suggesting that JAK inhibitors may be a promising option for refractory cases, where standard treatments have limited success.
1 citations
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January 2024 in “BMJ Case Reports” In this case report, a woman in her 50s was diagnosed with meningitis linked to mixed connective tissue disease after presenting symptoms similar to infectious meningitis, but with no infection detected and serological evidence pointing to the autoimmune condition.
5 citations
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October 2012 in “Australian veterinary journal” This report describes two South Australian Poll Hereford calves with a syndrome of congenital dyserythropoietic anaemia, dyskeratosis, and progressive alopecia, observing specific blood and bone marrow abnormalities.
2 citations
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August 2004 in “Veterinary Dermatology” This case study in an 8-month-old mixed-breed dog with symptoms and histopathological findings supports a diagnosis of hereditary junctional epidermolysis bullosa, although specific genetic mutations weren't identified.
This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.
8 citations
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April 2017 in “American Journal of Dermatopathology” In this study, nail matrix pathology in a patient with Cronkhite–Canada Syndrome revealed matrix hypergranulosis, suggesting that an inflammatory process may play a key role in the condition's pathogenesis.
3 citations
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April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
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.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
16 citations
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December 2006 in “Chinese Medical Journal” This case report describes a 12-year-old boy with congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis, highlighting the severe complications and the necessity for early intervention.