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Aim of the study: Lymphatic malformations (LMs) are rare entities, sometimes difficult to treat, that may be life-threatening when intricately connected to airway structures. Invasive treatments are occasionally required, with sclerotherapy considered the treatment of choice and surgery as a second-line approach. The aim of the present study was to evaluate our multidisciplinary team experience in treating newborns affected by LMs requiring operative management, while defining early outcomes.Methods: Retrospective review of all consecutive patients admitted for LMs requiring operative management between January 2000 and January 2019. Patients were mainly characterized based on anatomical district of the LM (and further stratified based on the development of respiratory distress), need for tracheostomy, number of sclerotherapies, indication for surgery, and residual disease beyond the 1st year. Morbidity and mortality were also evaluated. Fisher exact test and Mann–Whitney test were used as appropriate. Statistical significance was set at p < 0.05.Results: Fifty-seven patients were included in the study, 36 with cervicofacial and/or mediastinal LMs and 21 with LMs of other anatomical districts. Due to the risk of developing respiratory distress at birth, patients with cervicofacial and/or mediastinal LMs were divided into two groups (8/36 group A vs. 28/36 group B). Group A patients are at higher risk for tracheostomy (7/8 group A vs. 1/28 group B, p = 0.0001) and more often require surgical reduction of the residual lymphatic abnormality (5/8 group A vs. 4/28 group B, p = 0.013). They also require sclerotherapies more often, but the difference is not statistically significant (8/8 group A vs. 19/28 group B, p = 0.15). Patients with cervicofacial/mediastinal LMs frequently suffer from persistent residual disease beyond the 1st year of life, significantly more often in group A (7/8 group A vs. 12/28 group B, p = 0.043).Conclusion: LMs are rare conditions with potential life-threatening behavior. Their intrinsic clinical complexity requires a multidisciplinary approach to the affected patients. Planning a long-term follow-up is essential because of the late-term problems those patients may experience.

Aim: Male patients with anorectal malformations (ARM) are classified according to presence and level of the recto-urinary fistula. This is traditionally established by a preoperative high-pressure distal colostogram that may be variably interpreted by different surgeons. The aim of this study was to evaluate the inter- and intraobserver variation in the assessment by pediatric surgeons of preoperative colostograms with respect to the level of the recto-urinary fistula.Materials and Methods: Sixteen pediatric surgeons from 14 European centers belonging to the ARM-Net Consortium twice scored 130 images of distal colostograms taken in sagittal projection at a median age of 66 days of life (range: 4–1,106 days). Surgeons were asked to classify the fistula in bulbar, prostatic, bladder-neck, no fistula, and “unclear anatomy” example. Their assessments were compared with the intraoperative findings (kappa) for two scoring rounds with an interval of 6 months (intraobserver variation). Agreement among the surgeons' scores (interobserver variation) was also calculated using Krippendorff's alpha. A kappa over 0.75 is considered excellent, between 0.40 and 0.75 fair to good, and below 0.40 poor. Surgeons were asked to score the images in “poor” and “good” quality and to provide their years of experience in ARM treatment.Results: Agreement between the image-based rating of surgeons and the intraoperative findings ranges from 0.06 to 0.45 (mean 0.31). Interobserver variation is higher (Krippendorff's alpha between 0.40 and 0.45). Years of experience in ARM treatment does not seem to influence the scoring. The mean intraobserver variation between the two rounds is 0.64. Overall, the quality of the images is considered poor. Images categorized as having a good quality result in a statistically significant higher kappa (mean: 0.36 and 0.37 in the first and second round, respectively) than in the group of bad-quality images (mean: 0.25 and 0.23, respectively).Conclusions: There is poor agreement among experienced pediatric colorectal surgeons on preoperative colostograms. Techniques and analyses of images need to be improved in order to generate a homogeneous series of patients and make comparison of outcomes reliable.

Objective. To present a case of isolated ascites secondary due to urogenital abnormalities (urogenital sinus) without any other prenatal ultrasound marker. Method. A 36-year-old woman with prenatal isolated ascites delivered a female baby, weighing 2.285 g; ascites was drained at birth and the baby underwent several episodes of urinary retention prior to undergoing X-ray investigations. Results. A voiding cystourethrogram revealed a short urogenital sinus: a vesicostomy was performed. A vaginoscopy revealed double vagina with a large posterior vagina. A posterior sagittal anorectal pull-through with genitoplasty was performed at 2 years old with 1-year follow-up. Conclusions. Though rare, a urogenital abnormality is to be suspected in fetal ascites cases with negative viral tests and no cardiac anomalies. The most common ultrasound marker of such abnormalities (fluid filled cavity) may be missing because of complete drainage of urine through the tubes into peritoneum.

Survival rates in untreated patients with unresectable HCC are rather disappointing. Our study was aimed at assessing long-term survival in the patients submitted to combined transarterial chemoembolization (TACE) and percutaneous ethanol injection (PEI). We treated 223 patients, but long-term follow-up is available in 143 of them only. Eighty-seven of 143 patients had Child's A liver cirrhosis, 45 had Child's B and 6 Child's C. Five patients did not have cirrhosis. Eighty-seven patients had single lesions--45 of them < 5 cm and 42 > 5 cm. Fifty-six patients had multiple/diffuse lesions. All patients underwent TACE while PEI was performed in selected patients with single or double lesions. Survival rates were calculated with the life-table analysis by Kaplan and Meyer. Follow-up was 1-72 months (median: 28 months). At 1, 3 and 5 years, the overall survival rates were 72%, 34.5% and 16.4%, respectively. The survival rates at 1, 3 and 5 years in single lesions < 5 cm were 90.4%, 52.1% and 34.8%, respectively, vs. 69.4%, 37.4% and 18.7% in lesions > 5 cm and 58.8%, 12.5% and 0% in multiple/diffuse lesions. In conclusion, the long-term results of the radiologic treatment of unresectable HCC are comparable with surgical results obtained in selected cases.

To study the effect of ultraviolet light (UVL) exposure on the pathogenesis of vesiculobullous lupus erythematosus (VBLE), the back of depilated Strain 2 female guinea pigs was injected with sera from 2 patients with VBLE, 3 patients with non-bullous systemic lupus erythematosus (SLE) (disease control) and 4 normal human adults (normal control). Normal saline was also used as an additional control. Of the 20 injected areas, only half (10) were then irradiated with one minimal erythema dose of UVB (310 nm). The clinical and histologic features of the areas injected with VBLE sera and then irradiated showed significant differences from the areas only injected, as well as from the areas receiving injection and irradiation of the control sera (both disease and normal). Immunofluorescence studies, on the other hand, showed similar results in the areas injected with either VBLE or SLE sera. These results suggest that the most likely mechanism for induction of VBLE blisters is photoactivation of circulating factor(s) that damage the dermoepidermal junction of both sun-exposed and non-sun-exposed skin.

The epidermal Langerhans cells (ELC) are thought to be the outermost station of the immune system. Their location in the suprabasal layer of the epidermis makes them susceptible to a continuous exposure to ultraviolet irradiation (UVR) and if UVR alters the ELC, this may in turn induce both local and systemic effects. In this paper we have shown that UVA and UVB exposure produced dose-dependent changes of ELC, characterized by disturbance of spatial distribution and aggregation of the ATPase loci located in the ELC cytomembrane after low-dose exposure (1-3 MED), and actual cytomembrane damage after high doses (4-6 MED). UVC exposure, on the other hand, produced effects that were different from those of both UVA and UVB: high UVC doses, in fact, even though able to induce ELC morphological changes, failed to significantly reduce their number. These findings provide ultrastructural evidence of the deleterious effects produced by UVR on ELC.

A 7-year-old Italian girl with juvenile colloid milium was studied with histological, immunohistochemical, and electron microscopic methods. This patient had a well-documented history of severe sunburn and developed the lesions on the face shortly afterward. Numerous apoptotic keratinocytes were observed in the lower epidermis. These cells began their degeneration with filamentous whorl formation (or filamentous degeneration) of tonofilaments. In the papillary dermis the colloid substance was resolved by the electron microscopy into either wavy, thin filaments derived from the epidermal keratinocytes or typical amyloid filaments. Many desmosomes and gap junctions were found in the colloid substance. Polyclonal antikeratin antibody (DAKO) was positive in the colloid substance, particularly in the parts close to the epidermis. These findings suggested that juvenile colloid milium is different from adult colloid milium despite clinical similarities and that the former belongs to the group of actinic amyloid K, i.e. amyloidoses due to actinic degeneration of keratinocyte and its keratin.

A black male newborn delivered by cesarean section developed large bullae on his extremities and in other friction areas soon after birth. No significant family history was obtained. The bullae healed rapidly, leaving hypopigmentation but no scars or milia. Occasional new lesions continued to appear for four months but not after. Reexamination 12 months later showed a normal healthy infant with only residual hypopigmentation in some of the previously involved areas. Histologic and electron microscopic examinations revealed a subepidermal bulla that was ultrastructurally a subbasal lamina separation. Collagenolysis and damage to the anchoring fibrils were found to be responsible for this separation. Perifollicular collagen sheath was also damaged, but periductal collagen of eccrine duct was intact. Keratinocytes in the lower epidermis showed large, dilated rough endoplasmic reticulum (RER), which contained electron-dense stellate bodies. The contents of these RER vacuoles were discharged into the papillary dermis through the rupture of the basal lamina. The number and size of RER vacuoles in the lower epidermis correlated with the severity of collagenolysis in the underlying papillary dermis. The outer root sheath keratinocyte in the upper hair follicle contained RER vacuoles, but the eccrine duct keratinocyte did not. We suspected that the RER vacuoles contained proteolytic enzymes, which were responsible for the collagenolysis.

Milia developed in two patients with different chronic dermatoses after 2 weeks of treatment with clobetasol propionate ointment. Routine histologic and immunohistochemical analysis showed the cysts to be of eccrine gland origin.

A 51-year-old immunosuppressed man presented with ulcerations of the abdominal wall. Biopsy of the ulcer margin was necessary for the diagnosis of cutaneous cryptococcosis. Since a variety of opportunistic organisms can present with non-specific cutaneous lesions, these infections must be ruled out by tissue diagnosis of all immunosuppressed patients. A review of 22 additional cases is included together with electron microscopic findings.