Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs

Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikiloderma and congenital neutropenia, which explains the recurrence of respiratory infections and risk of developing bronchiectasis. Patients are also prone to develop hematological and skin cancers. Here, we present the case of a patient, the only child of apparently unrelated Serbian parents, affected by PN resulting from the homozygous mutation NM_024598.3:c.243G>A (p.Trp81Ter) of USB1; early onset of poikiloderma (1 year of age) was associated with cutaneous mastocytosis. We also provide a review of the literature on this uncommon condition with a focus on dermatological findings

Melanoma in children: A systematic review and individual patient meta-analysis

The current evidence on paediatric melanoma is heterogeneous, especially regarding the prognosis of different histological subtypes. We sought to systematically review the evidence on paediatric melanoma, highlighting the major sources of heterogeneity and focusing on available data on single patients. A systematic search was performed from 1948 to 25 January 2021. Only studies reporting at least one case of cutaneous melanoma in patients aged <= 18 years were included. Unknown primary and uncertain malignant melanomas were excluded. Three couples of authors independently performed title/abstract screening and two different authors reviewed all the relevant full texts. The selected articles were manually cross-checked for overlapping data for qualitative synthesis. Subsequently data on single patients were extracted to perform a patient-level meta-analysis. PROSPERO registration number: CRD42021233248. The main outcomes were melanoma-specific survival (MSS) and progression-free survival (PFS) outcomes. Separate analyses were done of cases with complete information on histologic subtype, focusing on superficial spreading (SSM), nodular (NM) and spitzoid melanomas, as well as of those classified as de-novo (DNM) and acquired or congenital nevus-associated melanomas (NAM). The qualitative synthesis covered 266 studies; however, data on single patients were available from 213 studies including 1002 patients. Among histologic subtypes, NM had a lower MSS than both SSM and spitzoid melanoma, and a lower PFS than SSM. Spitzoid melanoma had a significantly higher progression risk than SSM and trended toward lower mortality. Focusing on nevus-associated status, DNM demonstrated better MSS after progression than congenital NAM, and no differences were highlighted in PFS. Our findings describe the existence of different biological patterns in paediatric melanoma. Specifically, spitzoid melanomas demonstrated intermediate behaviour between SSM and NM and showed a high risk of nodal progression but low mortality. This raises the question of whether spitzoid lesions are being over-diagnosed as melanoma in childhood

Real-World Experience with Topical 5-Fluorouracil 4% (40 mg/g) Cream for the Treatment of Actinic Keratosis

Introduction:5-fluorouracil (5-FU) is one of the most effective topical treatments for actinic keratosis (AK). A new 4% formulation of 5-FU was recently approved in Europe. Objectives:This study aimed at evaluating 4% 5-FU cream safety and effectiveness in a real-world setting. Methods:Adult AK patients were retrospectively selected from the University of Campania Dermatology Unit database. Selection criteria included a diagnosis of non-hyperkeratotic, non-hypertrophic AK (Olsen grade I and II) of the face, ears, and/or scalp, treatment with 4% 5-FU once daily for 4 weeks, and at least 3 follow-up visits (4 and 8 weeks after treatment initiation, and 6 months after treatment end). The primary objectives were to evaluate AK lesions improvement at 8 weeks and relapse rate at 6 months. Patient-reported erythema and burning sensation intensity were also assessed at 4 weeks. Results: Ninety-eight patients were included in this analysis (male/female 80/18, mean age 74.7 years). AK lesions improvement at 8 weeks resulted complete or significant in 74.5% and 20.4% of the patients, respectively. At 6 months, 65.3% of the patients did not show AK relapses. Burning sensation at 4 weeks was reported as light, moderate, or absent by 44.9%, 22.4%, and 31.6% of the patients, respectively. Erythema was reported as light, moderate, or absent by 37.8%, 51%, and 10% of the patients, respectively. Burning sensation and erythema disappeared gradually during follow-up. No other side effects were reported. Conclusions:In this real-world study 4% 5-FU proved to be highly effective for AK lesions clearance with a favorable safety profile

Effectiveness and Safety After a Switch to Tildrakizumab: A Real World Multicenter Italian Study in Psoriasis

Introduction: Tildrakizumab is a humanized IgG1κ monoclonal antibody targeting the p19 subunit of interleukin (IL)-23, approved in 2018 for the treatment of patients with moderate-to-severe chronic plaque psoriasis. Objectives: This study aimed to evaluate the effectiveness, safety and survival of tildrakizumab in the medium term (48 weeks) in psoriatic patients failure to previous biologic treatment in a real world setting. Methods: This was a retrospective, multicenter observational study that included adult patients with moderate-to-severe plaque psoriasis, failure to previous biologic therapy, consecutively treated with tildrakizumab. PASI and BSA values were recorded at baseline, at 12 and 48 weeks of treatment. Safety and tolerability of tildrakizumab were investigated by examining the presence of any adverse events. Results: Overall 51 patients were enrolled. Baseline disease severity was moderate to severe with a mean PASI score of 19.2 ± 8.5, mean BSA of 16 ± 10.4, and mean DLQI of 18.2 ± 6.8. A significant reduction in the mean PASI score was detected at 12 weeks of tildrakizumab therapy (3.5 ± 2.7, p < 0.001), with a further improvement at week 48 (0.6 ± 1.5, p < 0.001). At week 12, there was a great improvement in BSA score for all groups (p <0.001) with further increase at week 48. The effectiveness was confirmed also by DLQI assessment, with a significant decrease at week 12 and even more at week 48 (p <0.001). Conclusions: This study confirms the effectiveness of tildrakizumab in daily clinical practice in patients with moderate-to-severe plaque psoriasis

Evaluation of the Role of Faecal Calprotectin in the Management of Psoriatic Patients under Treatment with Biologic Drugs

Background: Fecal calprotectin has emerged as a significant, validated, and non-invasive biomarker allowing for the evaluation of inflammatory bowel disease. Our study assessed the reliability of the use of faecal calprotectin as a valuable tool in the management of psoriatic patients on biological therapy. Methods: This was a single-centre prospective study including adult patients affected by moderate-to-severe psoriasis starting biological therapy. Faecal calprotectin levels were evaluated at baseline and at week 24 (W24) of treatment in all enrolled patients. Results: Overall, 129 patients were enrolled. The mean baseline faecal calprotectin levels were 74.7 μg/g and a significant reduction was detected at W24 of biological therapy (57.5 μg/g). An analysis of faecal CP values stratified by therapy type was performed. No significant reduction was assessed at W24 for any of the anti-IL17 drugs, whereas a significant reduction was detected for all IL23 inhibitors. Conclusions: Our study showed the potential use of faecal CP levels as a valuable tool for exploring intestinal inflammation in the management of psoriatic patients undergoing treatment with biologic drugs

Plasma radiofrequency ablation for treatment of benign skin lesions: Clinical and reflectance confocal microscopy outcomes

In the latest few years, plasma radiofrequency ablation has turned out a good option for treatment of several benign skin lesions. The technique can be easily performed to treat skin lesions with limited tissue invasion and no residual scars or hypo/hyperpigmentation areas

Diagnosing the Less Common Skin Tumors Clinical Appearance and Dermoscopy Correlation

Many texts deal with how to diagnose the straightforward melanomas of the skin, but there are many less common skin tumors that a clinician needs to be aware of because these are still likely to be encountered at some point in a clinical setting and many of them have serious implications. This highly illustrated text from an internationally acclaimed researcher provides a reliable guide to how to proceed with diagnosis of these more challenging entities. Contents: Tumors of the Epidermis: Nevoid basal cell carcinoma syndrome * Fibroepithelioma of Pinkus * Basosquamous carcinoma * Verrucous carcinoma * Sarcomatoid squamous cell carcinoma * Lentigines, Nevi, and Melanoma: Atypical Spitz nevus (tumor) * Halo Spitz nevus * Desmoplastic nevus * Pigmented epithelioid melanocytoma * Animal-type melanoma * Nevoid melanoma * Balloon cell melanoma * Desmoplastic melanoma * Special site melanoma (mucosal, acral) * Tumors of Cutaneous Appendages: Trichoadenoma * Trichoepithelioma and Brooke-Spiegler syndrome * Desmoplastic trichoepithelioma * Trichoblastoma * Tumors of the follicular infundibulum * Tricholemmoma and tricholemmal carcinoma and Cowden syndrome * Pilomatrixoma * Fibrofolliculoma/trichodiscoma and Birt—Hogg-Dubè syndrome * Sebaceous tumors *Syringocystadenoma papilliferum * Hidradenoma * Cylindroma and familial cylindromatosis and Brooke-Spiegler syndrome * Spiradenoma * Mammary and extramammary Paget’s disease * Syringoma * Eccrine poroma and eccrine porocarcinoma * Mesenchymal Tumors: Dermatofibrosarcoma protuberans * Atypical fibroxanthoma * Malignant fibrous histiocytoma (pleomorphic undifferentiated sarcoma) * Other Uncommon Tumors: Merkel cell carcinoma * Kaposi’s sarcoma * Angiosarcoma * Retiform hemangioendotheliom