Neurofibromatosis Type 1: Diagnostic Timelines in Children. / Cronología del diagnóstico de la neurofibromatosis tipo 1 en la infancia.

BACKGROUND AND OBJECTIVES: The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion. PATIENTS AND METHODS: Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital. The medical records of those included were reviewed to identify the date on which the diagnostic criteria of NF1 were objectified. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. Café au lait macules and skin fold freckling were assessed as a single diagnostic criterion, and genetic evidence was considered to confirm highly suspicious cases. RESULTS: We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (±3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was therefore delayed by 3 years and 8 months in patients without a family history. CONCLUSION: Skin lesions were the first clinical manifestation of NF1 in most patients. We believe that the National Institutes of Health's diagnostic criteria for NF1 should be updated to aid diagnosis in young children.

Cutaneous Manifestations not Considered Diagnostic Criteria for Neurofibromatosis Type 1. A Case-Control Study.

BACKGROUND: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. PATIENTS AND METHODS: Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. RESULTS: The prevalence of nevus anemicus (NA) (p<0.001) and juvenile xanthogranulomas (JXG) (p<0.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% [confidence interval (CI): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (p 0.025) and in relation to generalized itching with no other cause (p<0.001). CONCLUSIONS: NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.

Cutaneous Manifestations not Considered Diagnostic Criteria for Neurofibromatosis Type 1. A Case-Control Study. / Hallazgos cutáneos no considerados criterios diagnósticos de la NF1. Estudio de casos y controles.

BACKGROUND: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. PATIENTS AND METHODS: Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. RESULTS: The prevalence of nevus anemicus (NA) (P<.001) and juvenile xanthogranulomas (JXG) (P<.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% (confidence interval): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (P=.025) and in relation to generalized itching with no other cause (P<.001). CONCLUSIONS: NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.

Intralesional Triamcinolone for Fistulous Tracts in Hidradenitis Suppurativa: An Uncontrolled Prospective Trial with Clinical and Ultrasonographic Follow-Up.

BACKGROUND: There is little evidence on the use of intralesional triamcinolone (ILT) for managing fistulous tracts in hidradenitis suppurativa (HS). OBJECTIVE: To assess the clinical and ultrasound response to ILT for single fistulous lesions in HS patients. METHODS: A prospective open-label study was conducted to assess response to ILT (40 mg/mL) for fistulous tracts in HS. Consecutive patients (Hurley II stage exclusively) presenting to our department were recruited from August 2016 to August 2018. They received a single injection of ILT as the sole treatment. Lesions were assessed clinically and by ultrasound at baseline and 90 days. RESULTS: Of the 53 included HS patients with fistulous tracts, 36 (67.9%) were women, 30 (56.6%) were smokers, and 36 (67.9%) were obese or overweight (body mass index ≥25). Median Sartorius score was 9.0 (IQR 9.0-36.0), and median duration of the lesion treated was 6 months (IQR 3.0-12.0). Fistulous tracts were injected with 0.5 mL triamcinolone 40 mg/mL. Seven patients were lost to follow-up. At 90 days, 20 (43.5%) lesions showed clinical and ultrasound resolution, 13 (28.3%) showed only clinical resolution while persisting on ultrasound, and 13 (28.3%) persisted both clinically and on ultrasound. Mean clinical size decreased from 17.0 to 5.1 mm (p < 0.0001), while mean length on ultrasound decreased from 16.0 to 8.6 mm (p < 0.0001). LIMITATIONS: Small sample size and no control group. CONCLUSIONS: Our study suggests that ILT is beneficial for small fistulous tracts in HS.

Split-thickness skin grafts obtained from adjacent hairy skin for reconstructing auricular concave surfaces after Mohs surgery.

BACKGROUND: Reconstruction of large auricular defects with full-thickness skin grafts (FTSG) is a commonly reported option, but less attention has focused on the advantages and indications of using split-thickness skin grafts (STSG) in the ear. OBJECTIVE: We sought to report our experience using STSG for repair of defects located on the auricular concave surfaces, highlighting the utility of choosing the adjacent hairy skin as donor site. METHODS: We performed a retrospective review of all Mohs micrographic defects on the auricular concave surfaces repaired with STSG obtained from the adjacent hairy skin, between January 2017 and July 2018 at our institution. RESULTS: A total of 16 patients with defects on the auricular concavities resulting from removal of non-melanoma skin cancer were reconstructed with STSG taken from the adjacent hairy skin. Only one patient experienced partial graft failure and no other complications were observed after 6-month follow-up. CONCLUSION: Split-thickness skin grafts are suitable for reconstructing concave areas in the ear, providing good cosmetic results with a simple, cost-effective and easily reproducible technique. Choosing the adjacent hairy skin as a donor area shortens the operative and postoperative time, and allows the procedure to be performed in a single surgical field.

Ultrasound as a diagnostic and management tool in hidradenitis suppurativa patients: a multicentre study.

BACKGROUND: It has been reported that clinical evaluation consistently underestimates the severity of hidradenitis suppurativa (HS). OBJECTIVE: To determine the usefulness of ultrasound as a diagnostic tool in HS compared with clinical examination and to assess the subsequent modification of disease management. METHODS: Cross-sectional multicentre study. Severity classification and therapeutic approach according to clinical vs. ultrasound examination were compared. RESULTS: Of 143 HS patients were included. Clinical examination scored 38, 70 and 35 patients as Hurley stage I, II and III, respectively; with ultrasound examination, 21, 80 and 42 patients were staged with Hurley stage I, II and III disease, respectively (P < 0.01). In patients with stage I classification as determined by clinical examination, 44.7% changed to a more severe stage. Clinical examination indicated that 44.1%, 54.5% and 1.4% of patients would maintain, increase or decrease treatment, respectively. For ultrasound examination, these percentages were 31.5%, 67.1% and 1.4% (P < 0.01). Concordance between clinical and ultrasound intra-rater examination was 22.8% (P < 0.01); intra-rater and inter-rater (radiologist) ultrasound agreement was 94.9% and 81.7%, respectively (P < 0.01). LIMITATIONS: The inability to detect lesions that measure ≤0.1 mm or with only epidermal location. CONCLUSION: Ultrasound can modify the clinical staging and therapeutic management in HS by detecting subclinical disease.

Persimmon orchards harbor an abundant and well-established predatory mite fauna.

Traditionally persimmon cultivation has been considered a minor crop in Spain, but in recent years this crop has experienced an important increase in both cultivated area and production. This increase has been mainly attributed to the widespread adoption of a new postharvest treatment which considerably extends the fruit commercialization period. The sudden expansion of this crop has not allowed time to correctly develop an integrated pest management (IPM) program. Consequently, chemical treatments have become the main strategy to lessen the impact of pests. Given the importance of phytoseiids in other Mediterranean fruit crops, where they are the basis of IPM, we sought to determine whether they could be similarly employed in persimmon crops. For this, we studied the predatory mite complex, the phytoseiid population dynamics and the potential prey for them during three consecutive seasons in four persimmon orchards, two of which managed conventionally, and two organically. Phytoseiids were abundant throughout the season, found on average at a density of more than 1 predatory mite per leaf. The most abundant species was Euseius stipulatus (57.3%) followed by Typhlodromus phialatus (24.8%), Amblyseius andersoni (17.1%) and Paraseiulus talbii (0.8%). Persimmon leaves provided a diversity of prey for predatory mites throughout the year, the most abundant being mealybugs, coccids, whiteflies and thrips. The abundance of predatory mites was significantly correlated to the abundance of potential prey available. From our results we anticipate that phytoseiids will be key actors in the development of persimmon IPM. Their role in this crop is discussed, as well as how to conserve their populations.

Pharmacokinetics of norfloxacin after intravenous, intramuscular and subcutaneous administration to rabbits.

The disposition kinetics of norfloxacin, after intravenous, intramuscular and subcutaneous administration was determined in rabbits at a single dose of 10 mg/kg. Six New Zealand white rabbits of both sexes were treated with aqueous solution of norfloxacin (2%). A cross-over design was used in three phases (2 × 2 × 2), with two washout periods of 15 days. Plasma samples were collected up to 72 hr after treatment, snap-frozen at -45°C and analysed for norfloxacin concentrations using high-performance liquid chromatography. The terminal half-life for i.v., i.m. and s.c. routes was 3.18, 4.90 and 4.16 hr, respectively. Clearance value after i.v. dosing was 0.80 L/h·kg. After i.m. administration, the absolute bioavailability was (mean ± SD) 108.25 ± 12.98% and the Cmax was 3.68 mg/L. After s.c. administration, the absolute bioavailability was (mean ± SD) 84.08 ± 10.36% and the Cmax was 4.28 mg/L. As general adverse reactions were not observed in any rabbit and favourable pharmacokinetics were found, norfloxacin at 10 mg/kg after i.m. and s.c. dose could be effective in rabbits against micro-organisms with MIC ≤0.14 or 0.11 µg/mL, respectively.

Ultrasound Evaluation as a Complementary Test in Hidradenitis Suppurativa: Proposal of a Standarized Report.

BACKGROUND: Staging and monitoring of patients with hidradenitis suppurativa (HS) have been traditionally based on clinical findings. However, the physical examination may show important limitations because of its poor sensitivity for differentiating between different lesion subtypes, and its low sensitivity to define the disease's activity. OBJECTIVE: To develop a consensus ultrasound (US) report that could summarize the relevant anatomical characteristics and staging of patients considering the experience of radiologists and dermatologists working on imaging of HS. METHODS: A questionnaire on different aspects related to US examination in HS was performed. A working group, called DERMUS, composed of doctors from 9 countries who have been working in dermatologic US applied in patients with HS on a regular basis were included to evaluate the different items provided. RESULTS: A consensus US report to evaluate HS patients was established. CONCLUSION: The authors present the first attempt to define a HS standardized sonographic report. This model would be the first effort to include this imaging technique as the first elective medical test for staging and monitoring patients, which can support therapeutic decisions by providing earlier, objective, deeper, anatomical, and comparative evaluations in this difficult to treat disease.

Pathogenesis: common pathways between hidradenitis suppurativa and Crohn disease. / Etiopatogenia: nexos en común entre la hidradenitis supurativa y la enfermedad de Crohn.

Both hidradenitis suppurativa and Crohn disease are considered chronic inflammatory diseases due to immune dysregulation. The high prevalence of Crohn disease patients diagnosed with hidradenitis suppurativa suggests the existence of common pathogenic links. The present literature review analyses the similarities and differences in the pathogenesis of the two diseases, in the search for new research and knowledge targets.

[Ultrasound in pediatric dermatology]. / Ecografía en dermatología pediátrica.

Cutaneous ultrasound is particularly useful in pediatric dermatology to diagnose numerous diseases without the need to use invasive tests. The present articles reviews some frequent dermatological entities in children whose study can be simplified through cutaneous ultrasound. This article also provides practical recommendations reported in the literature that may facilitate ultrasound examination, with special mention of benign tumoural disease, both congenital and acquired, and vascular anomalies.

An Update on Hidradenitis Suppurativa (Part I): Epidemiology, Clinical Aspects, and Definition of Disease Severity.

Hidradenitis suppurativa is a chronic inflammatory disorder that has attracted increasing attention in recent years due to underestimations of prevalence and the considerable impact of the condition on interpersonal relationships, physical appearance, self-esteem, and body image. Although hidradenitis suppurative has a significant psychological impact on patients and can even cause physical limitations when thick scarring results in limb mobility limitation, until very recently little evidence was available relating to its epidemiology, etiology, or pathogenesis. In this review, we highlight the latest advances in our understanding of the epidemiological and clinical aspects of hidradenitis suppurativa. We will also look at the different classification systems for hidradenitis suppurativa and discuss the emergence of skin ultrasound as a promising technique for monitoring the course of this chronic inflammatory disease.

Psoriasiform exfoliative erythroderma induced by golimumab.

Golimumab is a fully human anti-tumour necrosis factor (TNF)-α monoclonal antibody approved for use in the treatment of active rheumatoid arthritis, psoriatic arthritis and ankylosing spondylitis. Psoriasis induced by treatment with anti-TNF drugs is well documented, but to our knowledge, the development of clinical features of psoriasiform exfoliative erythroderma during treatment with golimumab has not been previously described.

Ultrasound-guided cryoablation: Our experience in percutaneous treatment as an alternative to surgery for fibroadenomas of the breast lesions.

OBJECTIVES: To review the tolerance to and medium-term efficacy of ultrasound-guided cryoablation as an alternative to surgical treatment of fibroadenomas of the breast in our hospital. METHODS: We analyzed data from the 12 patients with fibroadenomas treated with ultrasound-guided cryoablation in our hospital between November 2020 and July 2022. Cryoablation was performed with a system using argon gas (Galil Boston Scientific®) or liquid nitrogen (Prosense Ice Cure®) following a triple-phase (freeze-thaw-freeze) protocol of variable duration depending on the size of the lesion. Patients were followed up with ultrasonography at 3, 6, 12, and 18 months. RESULTS: All patients tolerated the procedure well. Two patients reported moderate pain in the hours immediately after the procedure; no other complications occurred. The findings during follow-up included decreased volume of the fibroadenoma (47.07% at 3 months, 77.79% at 6 months, 81.77% at 12 months, and 88.81% at 18 months), blurring of the nodule's margins, a significantly reduced or absent signal within the lesion in the Doppler study, an echogenic band (representing edema, hemorrhage, and fat necrosis), and hypoechoic areas suggestive of fibrosis surrounding the fibroadenoma. CONCLUSIONS: Cryoablation is done on an outpatient basis, avoiding general anesthesia, thus making it less expensive. Cryoablation yields better cosmetic results than surgery.

Efficacy of ultrasound-guided cryoablation in treating low-risk breast cancer.

OBJECTIVES: The primary objective of this study to determine whether infiltrating carcinoma is present in surgical specimens obtained after ultrasound-guided cryoablation from patients with HER2-negative luminal breast cancer without positive axillary lymph nodes at ultrasound. The secondary objective is to demonstrate that placing the presurgical seed-marker immediately before cryoablation does not interfere with the disappearance of tumor cells from freezing or in the surgeon's ability to locate the tumor. METHODS: We treated 20 patients diagnosed with unifocal HR-positive HER2-negative infiltrating ductal carcinoma measuring <2cm by means of ultrasound-guided cryoablation (ICEfx Galil, Boston Scientific) using a triple-phase (freezing‒passive thawing‒freezing; 10min each phase) protocol. All patients later underwent tumorectomy according to the routine operating-room agenda. RESULTS: No infiltrating carcinoma cells were detected in the post-cryoablation surgical specimen in 19 patients; a focus of infiltrating carcinoma cells measuring <1mm was detected in the remaining patient. CONCLUSION: In the near future, if confirmed in larger studies with longer follow-up, cryoablation might constitute a safe and efficacious technique for the treatment of early, low-risk infiltrating ductal carcinoma. In our series, marking with ferromagnetic seeds did not interfere with the efficacy of the procedure or of the subsequent surgical intervention.

Scleroderma-like syndrome due to hydroxyurea.

Scleroderma-like cutaneous changes have been reported in association with several drugs, but not with hydroxyurea (HU), to our knowledge. We report the case of a 67-year-old man who was treated with HU (hydroxycarbamide) for 12 years for a myeloproliferative disorder, and presented a progressive pruritic woody induration, symmetrically affecting both legs. He also had Gottron-like papules on the back of the metacarpophalangeal joints, and a retroauricular undifferentiated squamous cell carcinoma. On histological examination of a skin biopsy taken from the leg, massive dermal fibrosis was seen, with thickening of collagen bundles throughout the entire dermis. Six months after HU withdrawal, the skin induration resolved without scarring. Scleroderma-like syndrome has not been previously considered one of the secondary effects of HU. The evolution of our patient's condition supports a causal relationship between the HU treatment and the sclerodermiform changes of the skin.

Update on the treatment of superficial mycoses.

We review the current treatments available for superficial mycoses and discuss recent developments in pharmacotherapy and the most useful adjuvant treatments. Special emphasis is placed on the proper use of conventional therapies and a number of pharmacoeconomic issues. The review also offers an update on the best treatment choices in particular circumstances. Finally, we discuss some novel contributions found in the literature.

Choroidal occlusive vasculopathy after intraarterial chemotherapy: MRI findings.

PURPOSE: To evaluate magnetic resonance imaging (MRI) findings in patients suffering choroidal occlusive vasculopathy (COV) after intra-arterial chemotherapy (IAC) for retinoblastoma. METHODS: A retrospective study of 37 eyes of 34 patients receiving IAQ between 2016 to 2021 as primary or secondary treatment for retinoblastoma was conducted. Twenty-two patients received systemic chemotherapy with carboplatin, vincristine and etoposide. The rest received IAC as primary treatment. The drugs administered were melphalan (3-4mg), carboplatin (40mg) plus topotecan (20mg). The patients were examined under general anaesthesia every month to observe tumor regression and possible complications of the treatment. For the patients with COV an MRI was obtained to analyse the choroidal thickness and axial ocular length. RESULTS: A COV was observed in 5 of the 37 eyes receiving IAC (13,51%), all of them with a complete sectorial choroidopathy not sparing the fovea (grade 2). In 4 of the 5 patients the choroidal thickness was decreased and in three cases the size of the eye which presented COV was clearly smaller than the contralateral eye. Tumor control was archived in all 5 patients. CONCLUSION: In our cases COV was associated with reduction of thinning of choroid and eye length in the MRI. A new classification maybe needed to correlate better with the severity of the complication affecting the fovea. Although early results generally are favorable to the use of IAC, longer follow up and scrupulous documentation of side effects will be necessary to know the true role of IAC for retinoblastoma.