Histopathologic features of Rothmund-Thomson syndrome

Annular, polycyclic, and atrophic facial plaques in an infant

“…Ahn, et al discovered similar lichenoid interface dermatitis and additional findings of dyskeratosis and rare plasmacytoid dendritic cells. 4 The differential diagnosis for our patient's rash included RTS, annular erythema of infancy, erythema gyratum atrophicans transiens neonatale, neonatal lupus, and erythema annulare centrifugum. With musculoskeletal abnormalities, genetic syndromes like RTS, Fanconi anemia, Bloom syndrome, and radioulnar synostosis with amegakaryocytic thrombocytopenia were considered.…”

Rothmund-Thomson syndrome, a disorder far from solved

“…While the clinical presentation of RTS patients can be heterogeneous and hamper a precise diagnosis (Haytaç et al, 2002;Stinco et al, 2008;Polese et al, 2011;Barisonek et al, 2016;Miranda et al, 2016;Pasagadugula et al, 2016;Chinmayee et al, 2017;Ahn et al, 2019;Zirn et al, 2021), current guidelines indicate that the individual must have, in addition to poikiloderma, at least two of the following clinical findings (Wang et al, 2001;Wang and Plon, 2020).…”

Understanding oral mucosal lesions in dyskeratosis congenita: from interface inflammation to squamous cell carcinoma, an observational report

“…Firstly, with a database search, the spectrum of skin-related conditions in primary care was evaluated. 3 Secondly, based on the findings, the curriculum was reorganized so that topics of bedside and other important contact teachings included only the most relevant skin-related conditions. Rarer and specialist-managed entities were shifted to online learning settings (digital patient cases, online learning materials).…”

“…Interface inflammation also occurs early in poikilodermatous genodermatoses such as xeroderma pigmentosum and Rothmund-Thomson syndrome. 3 Only a few reports discuss the presence of lichenoid changes in DC; these early findings were attributed to "simultaneously occurring OLP." 4 White patches have been mislabeled as "leukoplakia" and are considered the main oral finding in DC.…”

“…1 In patients with nail psoriasis, a thickening of the vessel wall as well as endothelial swelling is described, mainly because of deposition of immune complexes. 2,3 These microcirculatory aspects can be quantified by the ultrasonographic resistivity index (RI), evaluating the resistance to blood flow by assessing systolic and diastolic peak flows of small nail bed vessels. 4 RI depends on the inflammatory status:…”