Keloids in Rubinstein–Taybi syndrome: a clinical study

Abstract

Keloids occur in 24% of individuals with RSTS, either spontaneously or after a minor trauma, usually starting in early puberty. Management schedules have disappointing results. RSTS is a Mendelian disorder with a known molecular basis, and offers excellent opportunities to study the pathogenesis of keloids in general and to search for possible treatments.

Benign and malignant tumors in Rubinstein–Taybi syndrome

“…The same applies for naevi and other benign skin lesions. Though perhaps of little clinical importance, the association between RSTS and pilomatricoma remains intriguing, and may have a similar background as the increased frequency of keloids in individuals with RSTS (van de Kar et al, 2014). In the Dutch RSTS population, however, we have been unable to detect an association between their occurrences.…”

“…Presence of keloid lesions was assessed predominantly on clinical grounds, as described elsewhere (van de Kar et al, 2014) and histologically confirmed if reported in the PALGA database.…”

“…In 24% of RSTS individuals, itching keloids develop during puberty and adulthood (van de Kar et al, 2014). It has been suggested that, similarly to other neoplastic processes, keloids in RSTS individuals may also be a result of deregulated proliferation of fibroblasts and thereby may serve as a model to study in those individuals the earliest oncogenic changes (Siraganian et al, 1989; van de Kar et al, 2014). …”

Wound Repair and Regeneration

“…A BCA assay was performed to measure total protein concentration of each sample. Samples (25 μL, equal to a protein concentration 50 μg) were diluted with one part 2X sample buffer 136 Books MDPI (2X Laemmli Sample Buffer, 161-0737; Bio-Rad Laboratories, Inc., Hercules, CA, USA), boiled for 5 min, and loaded on to the polyacrylamide gel. The gel (mini-PROTEAN TGX stain free Precast Gel 7.5%, 456-8024; Bio-Rad laboratories, Inc., Hercules, CA, USA) was run at constant current at 100V for approximately 90 min at room temperature before the proteins were transferred onto a polyvinylidene difluoride (PVDF) membrane (Immobilion Transfer membranes, IVPH07850; Millipore, Billerica, MA, USA) at 20 V over night at 4 • C. Next, the membranes were incubated in 100 mM Tris-HCl, 0.9% NaCl, 0.1% Tween 20 (TTBS) with 5% fat-free milk for 60 min, followed by incubation in primary antibody NLRP3 (MAB7578, 2 μg/mL, R&D Systems, Minneapolis, MN, USA) or β-actin (#4970, 1 μg/mL, Cell Signaling technology, Beverly, MA, USA) overnight at 4 • C. Subsequently, the membranes were washed in TTBS and incubated in secondary horseradish peroxidase goat anti-rat (629520; Thermo Fisher Scientific), then washed again with TTBS, and finally, developed and photographed.…”

“…It is unresolved whether a predisposition for dermal keloid formation, as observed in patients from Asian or African American ethnicity, is associated with a higher risk to develop corneal keloid after corneal injury or surgery [131]. However, corneal keloids have been observed to occur in genetic syndromes such as Lowe's syndrome [132,133] and Rubinstein-Taybi syndrome [131,134], the latter of which has been shown to be accompanied by dermal keloid formation, which may occur spontaneously or after preceding trauma in up to 24% of the patients affected [135][136][137].…”