Search

Sánchez-Espino LF, Ivars M, Antoñanzas J, Baselga E. Appl Clin Genet. 2023;16:63–81. It has come to our attention that there is an error in the paper title on page 63, the title “Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache” should read “Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approach”.

Luis Fernando Sánchez-Espino,1 Marta Ivars,1 Javier Antoñanzas,2 Eulalia Baselga1 1Pediatric Dermatology Department, Barcelona Children’s Hospital Sant Joan de Dèu, Barcelona, Cataluña, Spain; 2Dermatology Department, Clínica Universidad de Navarra, Pamplona, Navarra, SpainCorrespondence: Eulalia Baselga, Department of Dermatology, Hospital Sant Joan de Deu, Passeig de Sant Joan de Déu, 2, Esplugues de Llobregat, Barcelona, 08950, Spain, Tel +34-686-68-9669, Email eulalia.baselga@sjd.esAbstract: Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma, and neurological manifestations including leptomeningeal angiomatosis and seizures. It is caused by a postzygotic, somatic, gain-of-function variant of the GNAQ gene, and more recently, the GNA11 gene in association with distinctive clinical features. Neuroimaging can help identify and stratify patients at risk for significant complications allowing closer follow-up; although no presymptomatic treatment has been demonstrated to be effective to date, these patients could benefit from early treatment and/or supportive interventions. Choroid plexus (CP) thickness measurements in brain magnetic resonance imaging (MRI) have a high sensitivity and specificity for early and incipient changes in SWS. In contrast, the absence of pathologic findings makes it possible to rule out associated neurological involvement and leads to periodical observation, with new imaging studies only in cases of new clinical signs/symptoms. Periodic ophthalmological examination is also recommended every 3 months during the first year and yearly afterwards to monitor for glaucoma and choroidal hemangiomas. Treatment for SWS depends on the extent and areas that are affected. These include laser surgery for PWB, anticonvulsants in the case of brain involvement, with either seizures or abnormal EEG, and medical treatment or surgery for glaucoma. Sirolimus has been used in a limited number of patients and appears to be a safe and potentially effective treatment for cutaneous and extra-cutaneous features, however controlled clinical studies have not been carried out. Better knowledge of GNAQ/GNA11 molecular pathways will help to develop future targeted treatments.Keywords: Sturge-Weber-syndrome, port-wine stain, capillary malformation, targeted therapies, GNAQ/GNA11, sirolimus

Carlos Salavera, Miguel Puyuelo, José L Antoñanzas, Pilar TeruelUniversidad de Zaragoza, Zaragoza, SpainBackground: The aim of this study was to analyze how formal thought disorders (FTD) affect semantics and pragmatics in patients with schizophrenia.Methods: The sample comprised subjects with schizophrenia (n = 102) who met the criteria for the disorder according to the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition Text Revision. In the research process, the following scales were used: Positive and Negative Syndrome Scale (PANSS) for psychopathology measurements; the Scale for the Assessment of Thought, Language, and Communication (TLC) for FTD, Word Accentuation Test (WAT), System for the Behavioral Evaluation of Social Skills (SECHS), the pragmatics section of the Objective Criteria Language Battery (BLOC-SR) and the verbal sections of the Wechsler Adults Intelligence Scale (WAIS) III, for assessment of semantics and pragmatics.Results: The results in the semantics and pragmatics sections were inferior to the average values obtained in the general population. Our data demonstrated that the more serious the FTD, the worse the performances in the Verbal-WAIS tests (particularly in its vocabulary, similarities, and comprehension sections), SECHS, and BLOC-SR, indicating that FTD affects semantics and pragmatics, although the results of the WAT indicated good premorbid language skills.Conclusion: The principal conclusion we can draw from this study is the evidence that in schizophrenia the superior level of language structure seems to be compromised, and that this level is related to semantics and pragmatics; when there is an alteration in this level, symptoms of FTD appear, with a wide-ranging relationship between both language and FTD. The second conclusion is that the subject’s language is affected by the disorder and rules out the possibility of a previous verbal impairment.Keywords: schizophrenia, formal thought disorder, semantics, pragmatics

Background: An association between granuloma annulare (GA) and dyslipidaemia has been reported. Adipophilin expression may play a plausible role as a cutaneous biomarker for dyslipidaemia in patients with GA; however, this potential link remains to be explored., Methods: Patients with GA were identified at our hospital between January 1, 1990, and December 31, 2021, with a thorough review of their clinical and histological characteristics. Adipophilin staining was assessed in biopsies of GA lesions., Results: A total of 107 patients with GA were included. The prevalence of dyslipidaemia in patients with positive adipophilin staining was clearly higher than in those with negative labelling (62.3% vs 13.3%). Relative to the dyslipidaemia risk for patients with negative adipophilin expression, the odds for patients with positive adipophilin expression were increased 10-fold (OR: 10.8; p-value<.01). We identified 23 incident cases of dyslipidaemia over a median follow-up period of 91 months among 54 patients with no history of dyslipidaemia. The patients with positive adipophilin expression showed a higher risk of developing dyslipidaemia (HR: 8.9; p-value<.01)., Conclusions: Patients with positive adipophilin staining in their GA biopsies were found to be associated with a higher risk for both baseline and incident dyslipidaemia., (Copyright © 2024. Published by Elsevier España, S.L.U.)

(1) Background : The preferred reconstructive option for closing small- or medium-sized defects of the distal half of the nose is the use of local flaps. The dorsal nasal (Rieger) flap is suitable for closing medium-sized defects at this location, especially when they are medially located, and are wider rather than tall. We describe a rotation-transposition dorsal nasal flap reconstruction for large nasal defects. The novelty of this design includes the addition of a small transposition lobe to the rotation flap, enabling the acquisition of tissue from either the lateral sidewall or the nasolabial sulcus, facilitating closure with guitar-string sutures. (2) Methods : We conducted a retrospective chart review of all the patients with large defects (>20 mm) of the nose who underwent nasal dorsum rotation-transposition flap repair between January 2019 and November 2022 at a single academic center. (3) Results : Fourteen patients (eight males, six females; ages 47-83, mean age 60 years) with defects (range: 20.00-35.00 mm) on the dorsum and nasal tip were recruited. Follow-up duration ranged from 12 months to 3 years, with all cases showing good or excellent oncologic and cosmetic results. (4) Conclusions : The rotation-transposition dorsal nasal flap was demonstrated to be a reproducible one-stage technique for large defects of the dorsum and nasal tip, with minimal risk of aesthetic or functional complications. Guitar-string sutures allowed the reduction of the defect size, facilitating a smaller flap design.

Introduction: Cutaneous squamous cell carcinoma (cSCC) is the second most common cutaneous neoplasm, and its incidence is on the rise. While most cSCCs have an excellent prognosis, certain risk factors, especially immunosuppression, have been associated with higher rates of local recurrence (LR), metastasis, and poor prognosis. This study aims to assess the risk factors for LR and metastasis development in cSCC among solid organ transplant recipients (SOTRs) and compare these rates with those in immunocompetent patients., Materials and Methods: A retrospective observational study included cSCC cases from the University Hospital Reina Sofía in Córdoba, Spain, between 2002 and 2019. Demographic, clinical, and histopathological data were collected. Local recurrence and metastasis rates were analyzed, along with progression-free survival. Univariate analyses were performed to identify prognostic factors in SOTRs., Results: Among 849 cSCC cases, we found higher rates of local recurrence and metastasis in tumors developed by SOTRs compared to those in immunocompetent individuals. However, no significant differences in local recurrence, metastasis, or progression-free survival were observed between the two groups. Risk factors for adverse outcomes in SOTRs included tumor size > 2 cm, depth > 4 mm, and a higher Clark level. A total of 34.4% of SOTRs developed a second primary cSCC during the follow-up., Conclusions: In our study, cSCCs in SOTRs did not exhibit statistically significant differences in the rates of adverse outcomes compared to immunocompetent patients. The prognosis of cSCCs in SOTRs may be more related to other tumor-dependent risk factors than to the immunosuppression status itself. Future studies are needed to refine risk stratification and follow-up protocols to ensure the optimal management of high-risk cSCC cases, particularly among immunosuppressed patients.

Background: The incidence of cutaneous squamous cell carcinoma (cSCC) is increasing over the years. Risk factors for local recurrence and metastasis have been widely studied in highly sun-exposed areas of the body but less data exist about less sun-exposed ones. The main objective of this study is to compare the risk of local recurrence and metastases in patients with cSCC in highly sun-exposed areas compared to cSCC in less sun-exposed areas., Material and Methods: A retrospective observational study was carried out, including 558 patients with histopathologically confirmed cSCC at the Reina Sofía University Hospital (HURS), Córdoba, during the period from 1 January 2017 to 31 December 2020. Demographic, clinical and anatomopathological data were collected., Results: Local recurrence occurs more often in highly sun-exposed areas (15.8%) compared to less sun-exposed ones (7.4%) ( p < 0.05). However, no differences in the rate of metastases in both groups were found. The presence of affected surgical margins and tumor thickness were identified as independent risk factors for cSCC in low sun-exposure areas., Conclusions: cSCC located in anatomical areas of high sun exposure presented a greater risk of developing local recurrence in our population, which could suggest that these tumors have worse prognosis than those that lie in areas that do not receive chronic sun exposure.

Reconstruction of the auricular concha poses a challenge due to its difficult access and limited tissue flexibility; however, there are no recommendations in the literature on which reconstructive technique should be favored for this anatomical site. This systematic review intends to describe and compare the reconstructive techniques used in conchal bowl reconstruction following cutaneous oncologic surgery of this region, with regard to their complications and aesthetic results. In doing so, we aim to identify the best suited reconstructive procedure(s) for the conchal bowl. The six databases searched (PubMed, Scopus, Web of Science, Ovid, SciELO, and CENTRAL) yielded twelve eligible studies that explored the revolving door flap, split-thickness skin grafts (STSG), full-thickness skin grafts (FTSG), second intention healing, the preauricular translocation flap, subcutaneous pedicle grafts, and other local flaps. Qualitative synthesis of the results concluded that the revolving door flap could be the reconstructive procedure of choice for the auricular concha, following skin cancer excision. It has a low risk of necrosis, infection, and postoperative hemorrhage, as well as excellent aesthetic outcomes. STSG may be used as an alternative. Nonetheless, due to the low sample size and the high risk of bias in some studies, further investigations must be conducted on this subject.

Background: Repairing lower extremity defects presents challenges due to the scarcity of available local tissue. Skin grafting is a widely employed technique for addressing non-healing ulcers, improving the quality of life of patients and minimizing discomfort. However, using traditional donor sites, such as the thigh, can hinder mobility and result in noticeable scarring and pigmentation changes., Objectives: This study aims to assess the effectiveness of a novel approach utilizing autologous ultra-thin split-thickness skin grafts (STSGs) harvested from the scalp using a disposable, commercially available razor blade named DermaBlade., Methods: Fifteen patients (median age: 72 years, eight males and seven females) with diverse lower limb lesions, including carcinomas and ulcers of varying etiologies, were prospectively enrolled. Donor sites included the sideburn extending to the hairy temporal skin (nine cases) and hairy occipital skin (six cases). Ultra-thin skin strips (<0.2 mm thick) were obtained from the scalp through the use of the disposable flexible blade DermaBlade. The strips were positioned over the receptor area with no sutures in most cases and secured using dressings. A substantial majority of patients (90%) achieved successful graft take with no complications. Swift re-epithelialization occurred within a median of 12 days for the donor site and 24 days for the receptor site. No hair transfer or alopecic scars were noted., Conclusions: In contrast to traditional grafting methods, DermaBlade-assisted scalp grafting yields highly viable STSGs that adhere to wound beds without the need for sutures. Notable advantages of this technique encompass rapid wound healing, minimal complications, and superior cosmetic outcomes. Furthermore, it avoids scarring and alopecia, making it a promising approach for addressing lower extremity defects.

(1) Introduction: The association between melanoma (MM) and the occurrence of second primary neoplasms (SPNs) has been extensively studied, with reported incidence rates ranging from 1.5% to 20%. This study aims to evaluate the occurrence of SPNs in patients with a history of primary MM and to describe the factors that make the risk higher in our population. (2) Material and Methods: We conducted a prospective cohort study and calculated the incidence rates and relative risks (RR) for the development of different SPNs in 529 MM survivors from 1 January 2005 to 1 August 2021. Survival and mortality rates were obtained, and the Cox proportional hazards model was used to determine the demographic and MM-related factors that influence the overall risk. (3) Results: Among the 529 patients included, 89 were diagnosed with SPNs (29 prior to MM diagnosis, 11 synchronous, and 49 after MM), resulting in 62 skin tumors and 37 solid organ tumors. The estimated probability of developing SPNs after MM diagnosis was 4.1% at 1 year, 11% at 5 years, and 19% at 10 years. Older age, primary MM location on the face or neck, and histologic subtype of lentigo maligna mm were significantly associated with a higher risk of SPNs. (4) Conclusions: In our population, the risk of developing SPNs was higher in patients with primary MM located on the face and neck and with the histological subtype of lentigo maligna-MM. Age also independently influences the risk. Understanding these hazard factors can aid in the development of MM guidelines with specific follow-up recommendations for individuals with the highest risk.