April 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This source reports that a study by Liu et al. analyzed genetic factors influencing adalimumab response in hidradenitis suppurativa, finding a specific genetic variant (SNP rs59532114) associated with an inadequate response to the treatment due to increased abscess and inflammatory nodule counts.
In this retrospective case series, therapeutic responses to immunomodulatory and incretin-based therapies for Dercum's disease showed considerable individual variation, suggesting these treatments might be exploratory options when surgery isn't feasible, though further controlled studies are needed for definitive conclusions.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report reveals a diagnosis of scurvy in a 19-year-old woman, emphasizing the importance of considering vitamin C deficiency in patients with dietary restrictions presenting with specific skin and gum symptoms.
28 citations
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August 2001 in “Journal of cutaneous medicine and surgery” This review discusses the increased incidence of dermatological conditions in individuals with Down's syndrome and explores potential links to immunological deficiencies, but reports no new clinical findings.
28 citations
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July 2005 in “Journal of Investigative Dermatology” Sca-1+ cells in newborn mouse skin may become fat cells.
2 citations
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June 2022 in “International Journal of Molecular Sciences” This study found variable outcomes in hair loss treatment with autologous cell-based therapy using DSC cells, with certain gene markers showing inconsistent correlations with treatment efficacy.
11 citations
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July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
January 2013 in “International Journal of Trichology” This case report describes a young girl with trichothiodystrophy and suggests the need for early diagnosis and multidisciplinary interventions for her educational challenges.
20 citations
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May 2016 in “Journal of Cutaneous Pathology” This study suggests that the presence and arrangement of plasmacytoid dendritic cells can help distinguish chronic cutaneous lupus erythematosus from other types of scarring alopecia.
1 citations
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January 2015 in “Journal of clinical case reports” This case report describes two siblings with Keratosis Follicularis Spinulosa Decalvans, illustrating its manifestations in a 9-year-old boy and a 5-year-old girl.
43 citations
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September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
June 2026 in “World Journal of Gastrointestinal Pathophysiology” This review consolidates current knowledge about Cronkhite-Canada syndrome, highlighting its symptoms, diagnostic challenges, and evolving treatment strategies, but reports no new clinical results.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
May 2025 in “The Journal of Rheumatology” This report describes two cases where female patients with chronic granulomatous disease developed manifestations of systemic lupus erythematosus, highlighting a rare association that may influence clinical evaluation and treatment planning.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
6 citations
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October 2023 in “JAAD Case Reports” This study describes dissecting cellulitis of the scalp (DCS) as a rare and aggressive form of chronic scalp inflammation presenting with pustules and nodules, commonly affecting males and African Americans, and leading to significant quality of life impacts and psychological distress.
August 2002 in “British journal of ophthalmology” This article reports that while surgical excision is often the best treatment for SCC, intralesional cidofovir also showed success without systemic toxicity in the case discussed.
2 citations
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August 2022 in “Viruses” This study found that cutaneous squamous cell carcinomas in mice infected with murine papillomavirus preferentially arise from Lgr5+ progenitor cells, while squamous cell dysplasia does not.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.
16 citations
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January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
2 citations
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October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
12 citations
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March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
1 citations
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August 2021 in “Canadian journal of neurological sciences” This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.
October 2024 in “Medicine” In this case report, a 72-year-old female with Cronkhite-Canada syndrome showed significant improvement in symptoms and gastrointestinal polyps after hormone therapy and additional treatment.
15 citations
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August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.
March 2019 in “Journal of Investigative Dermatology” This review discusses a quiz related to seborrheic dermatitis diagnosis and key findings from a previous study, but reports no new clinical results.
March 2022 in “Journal of Investigative Dermatology” In this study, Wang et al. (2022) found that in patients with cutaneous lupus erythematosus, chronic lesions contained more senescent progenitor cells, marked by p16 and p21, than subacute lesions, suggesting a link between disease chronicity and cellular senescence.
8 citations
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July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
16 citations
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November 2005 in “Journal of Clinical Pathology” This study found that CD1d is strongly expressed in human scalp skin and hair follicles, particularly in the anagen phase, suggesting a role in scalp immunology and potential implications for hair disorder treatment.