Diffuse dermal angiomatosis.

Diffuse dermal angiomatosis (DDA) is a benign and rare acquired, cutaneous, reactive, vascular disorder. We report a rare case of a 43-year-old man who presented with a large (15-cm diameter), indurated, hyperpigmented plaque covering the left buttock for 6 years. This report further discusses DDA with a review of the literature, including its classification, epidemiology, pathophysiology, etiology, histopathology, differential diagnosis, and current therapeutic approaches.

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.

A novel multi-organ disease that is fatal in early childhood was identified in three patients from two non-consanguineous families. These children were born asymptomatic but at the age of 2 months they manifested progressive multi-organ symptoms resembling no previously known disease. The main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. In the affected children, neuropathology revealed increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and previously undescribed granuloma-like lesions were observed in the lungs. Hepatomegaly, steatosis and collagen accumulation were detected in the liver. A whole-exome sequencing of the two unrelated families with the affected children revealed the transmission of two heterozygous variants in the NHL repeat-containing protein 2 (NHLRC2); an amino acid substitution p.Asp148Tyr and a frameshift 2-bp deletion p.Arg201GlyfsTer6. NHLRC2 is highly conserved and expressed in multiple organs and its function is unknown. It contains a thioredoxin-like domain; however, an insulin turbidity assay on human recombinant NHLRC2 showed no thioredoxin activity. In patient-derived fibroblasts, NHLRC2 levels were low, and only p.Asp148Tyr was expressed. Therefore, the allele with the frameshift deletion is likely non-functional. Development of the Nhlrc2 null mouse strain stalled before the morula stage. Morpholino knockdown of nhlrc2 in zebrafish embryos affected the integrity of cells in the midbrain region. This is the first description of a fatal, early-onset disease; we have named it FINCA disease based on the combination of pathological features that include fibrosis, neurodegeneration, and cerebral angiomatosis.

Graft-versus-host disease-associated angiomatosis: a clinicopathologically distinct entity.

BACKGROUND: Chronic graft-versus-host disease (GVHD) may present with various cutaneous manifestations. Isolated case reports describe eruptive angiomas in this setting. OBJECTIVE: We sought to provide a clinical and pathologic description of vascular proliferations in patients with GVHD. METHODS: Cases of documented GVHD associated with vascular proliferations were collected from the National Institutes of Health, Ohio State University, and MD Anderson Cancer Center. RESULTS: Eleven patients with a diagnosis of GVHD who developed vascular proliferations were identified. All patients manifested sclerotic type chronic GVHD of the skin. Vascular lesions were first documented a median of 44 months after transplantation and occurred primarily on the lower extremities or trunk. Histopathology revealed anastomosing networks of thin-walled vascular proliferations in a vague lobular growth pattern, with overlying epidermal acanthosis, peripheral collarette, ulceration, and disorganized fibroblast-rich and fibrotic stroma. Improvement was noted in 1 patient treated with propranolol and sirolimus and 1 patient with electrocautery. LIMITATIONS: Given the retrospective nature of the study, the overall incidence of vascular lesions in patients with GVHD is unknown. Histopathology was present for review on only 3 of 11 patients. CONCLUSION: The phenomenon of vascular lesions appears to be relatively specific for sclerotic type chronic GVHD when compared with other fibrosing diseases. We propose the term "graft-versus-host disease-associated angiomatosis" to describe this entity.

Intravitreal bevacizumab versus ranibizumab for the treatment of retinal angiomatous proliferation.

PURPOSE: To evaluate the effects of intravitreal bevacizumab and ranibizumab treatments in retinal angiomatous proliferation (RAP). METHODS: Fifty patients affected by RAP were randomly assigned either to intravitreal bevacizumab injection (IVBI) or intravitreal ranibizumab injection (IVRI). After a loading phase including three consecutive monthly injections, the retreatment was administered in cases of persistent RAP. The primary outcome measures were the mean changes in BCVA between the two treatment groups, and the proportion of eyes gaining 1 and 3 lines at the end of the follow-up. Secondary outcomes included central macular thickness (CMT) changes and progression to more advanced stages of RAP. RESULTS: Fifty patients affected by stage 1 and 2 RAP were recruited. Twenty-six and 24 patients received IVBI and IVRI, respectively. At the baseline, mean best corrected visual acuity (BCVA) values were 0.59 ± 0.21 (LogMAR ± SD, approximately corresponding to 20/80 Snellen Equivalent-SE) in IVBI group and 0.66 ± 0.33 (approximately 20/90 SE) in IVRI group with no statistical difference. At 12-month examination, both groups showed a statistically significant improvement in the BCVA, with a final mean value of 0.43 ± 0.24 (approximately 20/54 SE) in IVBI group and 0.50 ± 0.32 (approximately 20/63 SE) in the IVRI group. A BCVA gain of 1 and 3 lines was registered in 20 and 8 eyes, respectively, in the IVBI group. Similarly, 17 and 7 eyes showed an improvement of 1 or 3 lines, respectively, in the IVRI group. The CMT reduced significantly from baseline to 12-month examination in both groups. A lower proportion of eyes with complete pigment epithelium detachment resolution was noted in the IVBI group than in the IVRI group (40% versus 90%). CONCLUSIONS: Our study shows that both IVBI and IVRI are equally effective in improving the BCVA over a 1-year follow-up in eyes affected by stage 1 and 2 RAP.

Intravitreal ranibizumab treatment of retinal angiomatous proliferation.

PURPOSE: To determine the efficacy of intravitreal injections of ranibizumab in the treatment of retinal angiomatous proliferation (RAP) in neovascular age-related macular degeneration. METHODS: Retrospective, consecutive case series of 26 eyes (26 patients) treated with intravitreal injections of 0.5 mg ranibizumab for RAP. Patients received intravitreal injections at monthly intervals during upload phase for a 3-month period. RESULTS: Mean visual acuity before treatment was 0.75 ± 0.38logMAR (mean ± SD, n = 26). In the upload phase, mean visual acuity improved 4 weeks after the initial injection to 0.6 ± 0.37logMAR (n = 26) and to 0.53 ± 0.34logMAR (n = 26) 4 weeks after the third monthly intravitreal injection of ranibizumab. The mean optical coherence tomography (OCT) central foveal thickness reduced from 345 ± 55 µm at baseline to 215 ± 87 µm at 3 months. In the maintenance phase, mean visual acuity after 6 months was 0.66 ± 0.38logMAR (n = 12) and 0.7 ± 0.37logMAR after 9 months (n = 6). The mean OCT central foveal thickness was 259 ± 59 µm (n = 13) at 6 months and 280 ± 127 µm (n = 6) at nine-month follow-up. CONCLUSION: Intravitreal ranibizumab resulted in an improvement of visual acuity 4 weeks after the first injection but was more pronounced after 3 months. A reduction in leakage and OCT central foveal thickness was seen 3 months after the commencement of treatment.

[Surgical treatment of children presenting with juvenile angiofibroma of the skull base].

A total of 475 children have been operated at the Russian Children's Clinical Hospital during the last 20 years for the removal of benign and tumour-like neoplasms localized mostly in the nasal cavity, paranasal sinuses, and nasopharynx. As many as 361 (76%) of these patents were found to have juvenile angiofibroma of the base of the skull. In most of them, the tumour was diagnosed at the late stages of development. Accordingly, the scarcity and non-specific character of early clinical manifestations of the disease taken together with complicated topographic anatomy of angiofibromas and the difficulty of detailed visualization of the affected zone in young children account for their late hospitalization. The angiomatous lesions prevailed in the spheno-ethmoidal and basiliar regions. The children were operated through the nasomaxillary approach as described by Denker (in V.S. Pogosov's modification) without ligation of external carotid arteries. Since 1996, surgery has been performed after endovascular occlusion of the vessels feeding the tumour, with the maximally possible sparing of bone structures and taking into account the continuing active growth and formation of the facial skeleton. Relapses were documented in 43 (12%) patients. Postoperative radiotherapy had to be applied in the children showing recurrent growth of the tumour or its intracranial extension and in the cases when radical removal of the tumour proved impracticable because of its localization in the vitally important anatomical regions.

Delayed compressive angiomatous degeneration in a case of mesial temporal lobe epilepsy treated by γ knife radiosurgery: case report.

OBJECTIVE: Mesial temporal lobe epilepsy (MTLE) is one of the most common causes of intractable partial epilepsy. The conventional treatment of patients with MTLE is surgical excision. Currently, gamma knife (GK) radiosurgery is being explored as an alternative treatment. We report the first delayed major complication related to this treatment. CLINICAL PRESENTATION: A 54-year-old woman with a medical history of a post-viral encephalitis in childhood was treated in April 2001 by GK radiosurgery for a medically refractory MTLE. Her right temporomesial area received a dose of 20 Gy at the 50% marginal isodose line. Unfortunately, the patient continued to experience seizures, although they were of shorter duration and occurred less frequently. She was seen in our department on November 8, 2007, for an intracranial hypertensive syndrome. The imaging work-up showed an expansive hemorrhagic lesion in the right mesiotemporal area. Despite corticosteroid treatment, the patient still complained about headaches on November 13, and surgery was scheduled for November 22. However, the patient returned to the emergency department on November 16 with a temporal herniation syndrome requiring an urgent surgical procedure. INTERVENTION: The expansive lesion was completely removed. Histologic examination revealed lesions of the gray and white matter consisting of severe gliosis, hemorrhagic foci, hyalinized vessels, and neovascularization, giving the brain parenchyma an angiomatous aspect. CONCLUSION: Although reports on GK radiosurgical treatment of MTLE are encouraging, this case stresses the risk of developing 6 years later an angiomatous degeneration of the targeted brain with life-threatening intracranial hypertension.

Sequential combined treatment with intravitreal bevacizumab and photodynamic therapy for retinal angiomatous proliferation.

PURPOSE: To study visual and anatomical outcomes of sequenced combined therapy using intravitreal bevacizumab followed by photodynamic therapy (PDT) in eyes with retinal angiomatous proliferation (RAP). Safety and rate of intravitreal injections were also evaluated. METHODS: We conducted a prospective non-comparative pilot study of consecutive patients newly diagnosed with RAP. PDT guided by indocyanine green (ICG) angiography was applied 8+/-2 days after the intravitreal bevacizumab (1.25 mg) injection. At baseline and every month after the injection, best-corrected visual acuity (BCVA) measurement, complete eye examination including dynamic fluorescein and ICG angiography, and optical coherence tomography (OCT) were performed. RESULTS: In all, 21 eyes of 18 patients with RAP were enrolled. The mean age was 77 (range 65-86) years. Mean visual acuity at baseline was 0.63+/-0.25 logMAR. After treatment BCVA showed no statistically significant differences between each visit (P=0.10, ANOVA). At 9 months, the BCVA improved by three or more lines in three eyes (14%), remained stable in twelve eyes (57%), and worsened in six eyes (29%). Foveal thickness decreased significantly between baseline and all the follow-up visits (P<0.01, ANOVA). A total of 36 intravitreal injections were given during the study with a mean of 1.7 injections per eye (range 1-3 injections per eye). No ocular or systemic adverse events were reported. CONCLUSION: A possible synergistic effect may arise from the combination of intravitreal bevacizumab with PDT for the treatment of RAP. These findings also suggest a possible benefit of combo therapy in the rate of intravitreal re-injections.

Comparison of intravitreal triamcinolone acetonide with photodynamic therapy and intravitreal bevacizumab with photodynamic therapy for retinal angiomatous proliferation.

PURPOSE: To compare the efficacy of combined therapy with intravitreal triamcinolone (IVTA) and photodynamic therapy (PDT; IVTA plus PDT) with intravitreal bevacizumab (IVB) and PDT (IVB plus PDT) for patients with retinal angiomatous proliferation (RAP). DESIGN: Retrospective, observational case series. METHODS: We retrospectively reviewed 25 treatment-naïve eyes of 22 Japanese patients (11 men, 11 women) with retinal angiomatous proliferation. Twelve eyes of 11 patients were treated with combined therapy of IVTA plus PDT from September 1, 2004, through July 31, 2006. Thirteen eyes of 11 patients were treated with combined therapy of IVB plus PDT from February 1, 2007, through January 31, 2008. RESULTS: In 12 eyes treated with IVTA plus PDT, the mean best-corrected visual acuity (BCVA) levels at baseline and 12 months were 0.29 and 0.13, respectively. A significant (P < .05) decline in the mean BCVA from baseline was observed at 12 months. In 13 eyes treated with IVB plus PDT, the mean BCVA levels at baseline and 12 months were 0.25 and 0.37. A significant (P < .05) improvement in the mean BCVA from baseline was observed. At 12 months, the difference in BCVA between the 2 groups was significant (P < .05). The mean numbers of treatments at 12 months in the IVTA plus PDT group and the IVB plus PDT group were 2.7 and 1.6, respectively. The difference between the 2 treatments reached significance (P < .05). No complications developed. CONCLUSIONS: Compared with IVTA plus PDT, IVB plus PDT was significantly more effective in maintaining and improving visual acuity and in reducing the number of treatment for patients with retinal angiomatous proliferation.

Intravitreal ranibizumab (Lucentis) in the treatment of retinal angiomatous proliferation (RAP).

BACKGROUND: Retinal angiomatous proliferation (RAP) is a distinct variant of neovascular age-related macular degeneration (AMD). The aim of this study is to evaluate the functional and anatomic outcome after intravitreal ranibizumab (Lucentis) treatment in patients with RAP. METHODS: Prospective study of consecutive patients with newly diagnosed or recurrent RAP treated with intravitreal ranibizumab at the Jules Gonin Eye Hospital between March 2006 and December 2007. Baseline and monthly follow-up visits included best-corrected visual acuity (BCVA), fundus exam and optical coherence tomography. Fluorescein and indocyanine green angiography were performed at baseline and repeated at least every 3 months. RESULTS: Thirty-one eyes of 31 patients were treated with 0.5 mg of intravitreal ranibizumab for RAP between March 2006 and December 2007. The mean age of the patients was 82.6 years (SD:4.9). The mean number of intravitreal injections administered for each patient was 5 (SD: 2.4, range 3 to 12). The mean follow up was 13.4 months (SD: 3, range 10 to 22). The baseline mean logMAR BCVA was 0.72 (SD: 0.45) (decimal equivalent of 0.2). The mean logMAR BCVA was improved significantly (P < 0.0001) at the last follow-up to 0.45, SD: 0.3 (decimal equivalent 0.35). The visual acuity (VA) improved by a mean of 2.7 lines (SD 2.5). Mean baseline central macular thickness (CMT) was 376 microm, and decreased significantly to a mean of 224 microm (P < 0.001) at the last follow-up. Mean reduction of CMT was 152 microm (SD: 58). An average of 81.5% of the total visual improvement and 85% of the total CMT reduction occurred during the first post-operative month after one intravitreal injection of ranibizumab. During follow-up, an RPE tear occurred in one eye (3.2%) of the study group. No injection complications or systemic drug-related side-effects were noted during the follow-up period. CONCLUSIONS: Intravitreal ranibizumab injections appeared to be an effective and safe treatment for RAP, resulting in visual gain and reduction in macular thickness. Further long-term studies to evaluate the efficacy of intravitreal ranibizumab in RAP are warranted.

Early response of retinal angiomatous proliferation treated with intravitreal pegaptanib: a retrospective review.

AIMS: To evaluate the early functional and anatomical responses to intravitreal pegaptanib in patients with retinal angiomatous proliferation (RAP). METHODS: Retrospective review of consecutive patients newly diagnosed with RAP treated with intravitreal pegaptanib (0.3 mg). Examination at baseline and 12 weekly intervals included refraction protocol best corrected visual acuity (BCVA), fluorescein angiography (FA), and optical coherence tomography (OCT). At intervening 6 weekly visits a reduced protocol assessment included BCVA and OCT. RESULTS: A total of 16 eyes of 16 patients (12 female, mean age 76.0 years) with RAP at baseline (15 stage 3, one stage 2) were treated. One patient had poor response, losing 20 ETDRS letters after one injection and was switched to photodynamic therapy combined with intravitreal triamcinolone. Mean BCVA (n=15) was baseline 45+/-11 (mean+/-SD) letters, 12 weeks 43+/-14 letters, 24 weeks 40+/-14 letters; the reduction from baseline to 24 weeks was statistically significant (P=0.04). Vision remained stable defined as +/-15 letters of baseline BCVA in 13 (87%) of patients 2 (13%) lost >15 letters. Mean OCT central foveal thickness (CFT) (n=13) was: baseline 325+/-123 microm, 12 weeks 343+/-130 microm, 24 weeks 321+/-115 microm; difference at 24 weeks was not statistically significant (P=0.9). A pigment epithelial detachment was present in 12 cases; height was reduced in 10 cases at 24 weeks. Persistent leakage on FA was seen in 13 out of 15 cases at 24 weeks. CONCLUSION: Early results of treatment of RAP with intravitreal pegaptanib suggest some stabilizing effect on this normally progressive disease.

Diffuse lymphangiomatosis--a fatal case with atypical skeletal features.

Diffuse lymphangiomatosis is a rare idiopathic condition that occurs mostly in children, is characterized by a non-neoplastic proliferation of lymphatic vessels, leading to organ dysfunction, chylous effusions, and death. A closely related condition-the Gorham-Stout syndrome-is also characterized by lymphangiomatosis and chylous effusions, but also with massive osteolytic changes ("vanishing bone disease"). A 33-year-old woman presented with a 5-year history of worsening chylous effusions and organomegaly. An extensive evaluation has ruled out most diagnoses. A complete radiographic skeletal study did not disclose any osteolytic changes. However, a Tc99 bone scan has demonstrated an absence of osteoblastic activity in some bones. An autopsy confirmed the diagnosis of diffuse lymphangiomatosis, but with histologically normal bone. If this unusual imaging pattern will be reproduced in future cases, a much needed diagnostic aid may help decrease the frequent diagnostic delays in diffuse lymphangiomatosis.

Angiomatosis quística exclusiva del abdomen sin afectación ósea o de partes blandas / No disponible

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