Retinal abnormalities in a patient with cutis marmorata telangiectatica congenita.

Cutis marmorata telangiectatica congenita is a rare congenital vascular malformation characterised by cutaneous vascular abnormalities, typically diagnosed at birth or in the early postnatal period. Although typically benign, this disease is associated with other systemic abnormalities, including rare ocular alterations, such as congenital glaucoma, cataracts and retinopathy.This manuscript describes a female infant, who presented with generalised livedo reticularis, a band of alopecia and cutaneous atrophy in the temporal region above the coronal suture. The patient was diagnosed with cutis marmorata telangiectatica congenita by a paediatrician, and an ophthalmological evaluation was requested. A funduscopy examination in both eyes showed temporal and superior retina with avascular areas with new vessels, venous dilations and shunts, and no retinal detachments. Given these findings, we performed retinal photocoagulation laser treatment with excellent results.This case report highlights the importance of early ophthalmological evaluation of children with this disease to prevent secondary complications, such as vitreous haemorrhage and tractional retinal detachment.

Comparison of dermoscopic characteristics on toenail onychomycosis in psoriatic and non-psoriatic patients: A prospective study.

BACKGROUND: Psoriatic patients may experience the coexistence of onychomycosis (OM). However, the evaluation of OM in psoriatics has been hindered by potential clinical differences from OM in non-psoriatics. OBJECTIVE: To assess and compare dermoscopic features between toenail OM in psoriatic and in non-psoriatic patients. PATIENTS AND METHODS: Between September 2020 and September 2023, dermoscopy was conducted on 183 affected toenails by OM in psoriatics and 232 affected toenails by OM in non-psoriatics in two centres. The dermoscopic characteristics were compared using the Chi-squared test. RESULTS: Among toenail OM cases in psoriatic subjects, the most prevalent dermoscopic features included pitting (147/183, 80.33%) and subungual hyperkeratosis (118/183, 64.48%). Conversely, toenail OM in non-psoriatics was characterized by subungual hyperkeratosis (175/232, 75.43%) and nail spikes (139/232, 59.91%). Comparative analysis revealed a significantly higher occurrence of pitting (80.33% vs. 15.96%, p < .001), periungual telangiectasis (22.40% vs. 4.74%, p < .001), oil patches (12.57% vs. 0.43%,p < .001) and transverse grooves (43.72% vs. 28.45%,p < .01) in toenail OM in psoriatics. Furthermore, toenail OM in psoriatics exhibited a significantly lower frequency of yellow structureless area (13.11% vs. 42.67%, p < .001), nail spikes (43.17% vs. 59.91%, p < .01), ruin appearance of sulphur nugget (8.20% vs. 31.03%, p < .001), dotted/blocky haemorrhage (6.01% vs. 20.69%,p < .001) and partial onycholysis (32.79% vs. 46.98%, p < .01). CONCLUSIONS: Dermoscopic features of toenail OM in psoriatic and non-psoriatic patients exhibit notable differences. OM in psoriatics shows a higher frequency of pitting and periungual telangiectasis, while a lower frequency of yellow structureless areas and nail spikes under dermoscopy.

Pro-angiogenic changes of T-helper lymphocytes in hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is a rare inherited disease due to heterozygous loss-of-function mutations on the BMP9/10 pathway (ENG, ACVRL1 or MADH4 mainly). HHT endothelial cells are prone to lose their quiescence, leading to progressive appearance of numerous telangiectases on skin and mucosa (complicated by epistaxis and anemia), and to larger arteriovenous malformations in lungs, liver and brain. HHT is also associated with T lymphocyte abnormalities, which are currently poorly understood. We quantified by flow-cytometry the main T lymphocyte circulating subsets in 40 HHT patients and 20 matched healthy controls. Immunostaining was done on 2 HHT skin telangiectases. Disruptions in T lymphocyte homeostasis was observed, characterized by increases in subsets known to promote angiogenesis: Th2 (1.38% vs 1.15%, p=0.021), Th17 (0.32% vs 0.22%, p=0.019 2) and Treg (4.94% vs 3.51%, p= 0.027). T angiogenic lymphocytes (Tang), defined as CD3+CD31+CXCR4+ T cells, were at similar levels in both groups, but the proportion of VEGF-A+ Tang after stimulation was higher in the HHT group compared to controls (68.2% vs 44.9%, p=0.012). The global HHT T lymphopenia predominantly affected the effector memory T-helper cells (200 vs 270 cells/mm3, p=0.017), and the lymphocytic infiltrate around HHT telangiectases consisted of memory T-helper cells. The Th17 circulating subset was positively correlated with the monthly epistaxis duration (r coefficient: +0,431, p=0.042), prospectively assessed. HHT T-helper lymphocytes are affected by several pro-angiogenic changes, potentially resulting from their recruitment by abnormal endothelial cells. They could constitute a biologically relevant source of VEGF-A and a valuable therapeutic target in HHT.

Examining the efficacy of verteporfin photo-dynamic therapy (PDT) at different dose & fluence levels.

OBJECTIVES: Photodynamic therapy (PDT) is a vaso-occlusive treatment for a number of chorioretinal vascular pathologies. We aimed to retrospectively analyse efficiency and safety of PDT for different conditions (central serous retinopathy (CSR), age-related macular degeneration (AMD), macular telangiectasia type 2 and choroidal hemangioma) and with different verteporfin parameters. METHODS: Clinical parameters were ascertained from the medical records of patients undergoing PDT over a 6-year period. This included indications for PDT, dosing regimens of verteporfin PDT (which includes treatment dose of verteporfin and fluence). Response to treatment was measured by best corrected visual acuity (BCVA) and central foveal thickness (CFT) on ocular coherence tomography. Complications and side effects were recorded. RESULTS: 67.4 % (31/46) of PDT treatments performed over the last six years were for CSR. In the CSR cohort, there were significant improvements in BCVA (0.47 ± 0.24 to 0.29 ± 0.27, p < 0.05) and CFT (350.2µm ± 66.9 µm to 286.1µm ± 60.6 µm. In the AMD cohort, there was no change in BCVA (1.08 ± 0.52 to 1.07 ± 0.53, p = 0.96) but significant improvement in CFT (488.2µm ± 164.6 µm to 348.7µm ± 65.7 µm, p < 0.05). There was no significant difference in BCVA or CFT for macular telangiectasia type 2 and choroidal hemangioma. CONCLUSIONS: PDT continues to have a role in the management of medical retina conditions. Our results show PDT is most effective in improving and stabilizing visual acuity in CSR, with earlier intervention resulting in better outcomes.

Cutaneous Manifestations, Clinical Characteristics, and Prognosis of Patients With Systemic Sclerosis Sine Scleroderma: Data From the International EUSTAR Database.

Importance: Systemic sclerosis (SSc) sine scleroderma (ssSSc) is a subset of SSc defined by the absence of skin fibrosis. Little is known about the natural history and skin manifestations among patients with ssSSc. Objective: To characterize the clinical phenotype of patients with ssSSc compared with patients with limited cutaneous SSc (lcSSc) and diffuse cutaneous SSc (dcSSc) within the EUSTAR database. Design, Setting, and Participants: This longitudinal observational cohort study based on the international EUSTAR database included all patients fulfilling the classification criteria for SSc assessed by the modified Rodnan Skin score (mRSS) at inclusion and with at least 1 follow-up visit; ssSSc was defined by the absence of skin fibrosis (mRSS = 0 and no sclerodactyly) at all available visits. Data extraction was performed in November 2020, and data analysis was performed from April 2021 to April 2023. Main Outcomes and Measures: Main outcomes were survival and skin manifestations (onset of skin fibrosis, digital ulcers, telangiectasias, puffy fingers). Results: Among the 4263 patients fulfilling the inclusion criteria, 376 (8.8%) were classified as having ssSSc (mean [SD] age, 55.3 [13.9] years; 345 [91.8%] were female). At last available visit, in comparison with 708 patients with lcSSc and 708 patients with dcSSc with the same disease duration, patients with ssSSc had a lower prevalence of previous or current digital ulcers (28.2% vs 53.1% in lcSSc; P < .001; and 68.3% in dcSSc; P < .001) and puffy fingers (63.8% vs 82.4% in lcSSc; P < .001; and 87.6% in dcSSc; P < .001). By contrast, the prevalence of interstitial lung disease was similar in ssSSc and lcSSc (49.8% and 57.1%; P = .03) but significantly higher in dcSSc (75.0%; P < .001). Skin telangiectasias were associated with diastolic dysfunction in patients with ssSSc (odds ratio, 4.778; 95% CI, 2.060-11.081; P < .001). The only independent factor for the onset of skin fibrosis in ssSSc was the positivity for anti-Scl-70 antibodies (odds ratio, 3.078; 95% CI, 1.227-7.725; P = .02). Survival rate was higher in patients with ssSSc (92.4%) compared with lcSSc (69.4%; P = .06) and dcSSc (55.5%; P < .001) after up to 15 years of follow-up. Conclusions and Relevance: Systemic sclerosis sine scleroderma should not be neglected considering the high prevalence of interstitial lung disease (>40%) and SSc renal crisis (almost 3%). Patients with ssSSc had a higher survival than other subsets. Dermatologists should be aware that cutaneous findings in this subgroup may be associated with internal organ dysfunction. In particular, skin telangiectasias in ssSSc were associated with diastolic heart dysfunction.

Case study of a migraine patient with multiple extracephalic symptoms including melena due to telangiectasia of the sigmoid colon : a possible new migraine-associated symptom.

Migraine is a chronic neurological disorder characterized by headaches and extracephalic symptoms. We report a 73-year-old male patient with a history of migraines as well as several other chronic conditions including abdominal pain accompanied by nausea and vomiting, pain and ecchymosis of the limbs, dysmetropsia, syncope, and melena due to telangiectasia of the sigmoid colon. After a thorough evaluation of the migraine condition, we hypothesized that the patient's melena due to telangiectasia of the sigmoid colon might in fact be a migraine-related phenomenon. In this report, we discuss a possible mechanism for melena due to telangiectasia in migraine patients, as well as "tips" for identifying subtle and/or unreported clinical features of migraine conditions. J. Med. Invest. 70 : 298-300, February, 2023.

Intraoperative hepatic subcapsular spider-like telangiectasia sign for the definitive diagnosis of biliary atresia.

OBJECTIVE: To evaluate the accuracy of intraoperative hepatic subcapsular spider-like telangiectasia (HSST) sign for differentiating biliary atresia (BA) from other causes of hepatic cholestasis. METHODS: The data of 69 patients with jaundice treated from January 2019 to December 2021 were retrospectively analyzed. Based on intraoperative cholangiography (IOC), the patients were divided into two groups: the BA group (n = 49) and the non-BA group (n = 20). The biochemistry tests, liver ultrasound, liver stiffness value and HSST sign of the two groups were compared. RESULTS: The incidence of abnormal gallbladder, elevated γ-glutamyl transpeptidase (γ-GGT) > 182.0U/L and abnormal liver stiffness (> 6.4 kPa) in BA group were significantly higher than those in non-BA group (P < 0.001). The HSST sign was present in all BA patients and not found in non-BA group. The area under receiver operating curve of direct bilirubin(DBIL), γ-GGT, abnormal gallbladder, liver stiffness value and HSST sign were 0.53, 0.84, 0.78, 0.96, and 1.00, respectively. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value(NPV) of HSST sign in the diagnosis of BA were all 100%. CONCLUSION: Presence of HSST sign on diagnostic laparoscopy is highly suggestive of BA.It can be used in the differential diagnosis of BA and non-BA. LEVEL OF EVIDENCE: Level III.

Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica Congenita.

Biallelic variants in DI3SL2 cause Perlman Syndrome, associated increased risk for Wilms tumor. Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare congenital disorder characterized by cutaneous vascular anomalies. We report a 2-year-old boy with both Wilms tumor and CMTC. Genetic testing, prompted by his complex presentation, revealed 1 somatic mutation and 1 familial germline mutation in the DIS3L2 gene, suggesting a 2-hit causation of Wilms tumor. Separately, a single GNA11 somatic mutation was identified to explain the CMTC. We suggest that genetic testing for germline mutations associated with Wilms tumor susceptibility be considered even in cases without known family history.

Prenatal diagnosis and delivery of megalencephaly-capillary malformation syndrome.

Hemimegalencephaly (HME) is a rare neurological diagnosis defined as hamartomatous overgrowth of one cerebral hemisphere. The hypothesised pathogenesis is due to an increased number or size of neural cells; however, the exact mechanism can vary widely, depending on the underlying aetiology. We report a case outlining the prenatal diagnostic process and obstetric considerations for delivering an infant with HME secondary to megalencephaly-capillary malformation syndrome. After diagnosis, our patient was induced and delivered at 37 weeks of gestation via operative vaginal delivery. To our knowledge, this is the first report describing the course from prenatal diagnosis through delivery of a fetus with HME.

Dorsal arachnoid web: A rare cause of syringomyelia and myelopathy / Telaraña aracnoidea dorsal: una causa rara de siringomielia y mielopatía

Dorsal arachnoidal webs are condensations of arachnoidal tissue densely adherent to the pial surface of the posterior aspect of the dorsal spinal cord. Infrequently described in literature they disrupt the flow of CSF in the spinal subarachnoid space leading to syringomyelia and myelopathy. While there are several theories on their origin, the “scalpel sign” on magnetic resonance imaging is considered to be pathognomonic of this condition. An illustrative case of a 58 year old man with syringomyelia and dorsal cord indentation who presented with spastic paraparesis, gait instability, parasthesias and bilateral non radicular upper limb pain that resolved following excision of the web is described to highlight the importance of considering this diagnosis when cases of so called “idiopathic” syringomyelia are encountered (AU)

Las membranas aracnoideas dorsales son condensaciones de tejido aracnoideo densamente adherido a la superficie pial de la cara posterior de la médula espinal dorsal. Descritas con poca frecuencia en la literatura, interrumpen el flujo del líquido cefalorraquídeo (LCR) en el espacio subaracnoideo espinal y provocan siringomielia y mielopatía. Si bien existen varias teorías sobre su origen, el «signo del bisturí» en la resonancia magnética se considera patognomónico de esta afección. Se describe un caso ilustrativo de un varón de 58 años con siringomielia e indentación medular dorsal que presentó paraparesia espástica, inestabilidad de la marcha, parestesias y dolor bilateral no radicular en miembro superior que se resolvió tras la exéresis de la telaraña para resaltar la importancia de considerar este diagnóstico cuando se encuentran casos de la llamada siringomielia «idiopática» (AU)

Demodicosis as a Skin Complication in Organ Transplant Recipients: A Case Series.

BACKGROUND Patients after organ transplantation are, due to chronic immunosuppression, prone to have many cutaneous adverse events, both infections and neoplasms. Studies show that some groups of patients under chronic immunosuppression are prone to develop demodicosis. The significance of demodicosis in the population of organ transplant recipients has not been established yet. CASE REPORT We present 4 cases of patients with multiply dermatological complications of immunosuppression, in which one of them is demodicosis. The presented symptoms were itch, pustules, papules, and/or telangiectasias. Age of patients varied from 64 to 79 years old. Time between transplantation and diagnosis of demodicosis varied from 6 to 10 years. Other dermatological problems that appeared were basal cell carcinoma, actinic keratosis, and seborrheic keratosis. Patients showed complete resolution after treatment with topical ivermectin 10 mg/g and topical permethrin 50 mg/g. However, the medications were prolonged to 16 weeks in 1 case to reduce persistent papules and telangiectasias. The therapy did not cause any complications or disruptions in function of transplanted kidneys in any of reported patients. CONCLUSIONS Demodicosis may have a significant role in the group of infections that organ transplant recipients are prone to, and may co-exist with other dermatological diseases, including neoplasms. However, larger studies in the field are needed.

CANTO-RT: Skin toxicities evaluation of a multicentre large prospective cohort of irradiated patients for early-stage breast cancer.

Skin damage is the most common and most important toxicity during and after radiation therapy (RT). Its assessment and understanding of the factors influencing its occurrence, is a major issue in the management of patients irradiated for an early breast cancer. CANTO is a prospective clinical cohort study of 10 150 patients with stage I-III BC treated from 2012 to 2017 in 26 cancer centres. In our study, we used CANTO-RT, a subcohort of CANTO, including 3480 patients who received RT. We are focus on specific skin toxicities: erythema, fibrosis, telangiectasia and cutaneous pigmentation. The prevalence of toxicities of interest varied over time, so at baseline for early toxicity Month (M) 0-3-6, 41.1% of patients had erythema while 24.8% of patients had fibrosis. At M12 and M36, the prevalence of erythema decreased, respectively, while fibrosis remains stable. The prevalence of telangiectasia increases from 1% to 7.1% from M0-3-6 to M36. After adjustments, we showed an association between the occurrence of skin erythema and obesity; the type of surgery; the presence of axillary dissection; the use of taxane-based CT and the 3D vs IMRT irradiation technique. Regarding fibrosis, an association is found, at M0-3-6, with age at diagnosis, obesity, tobacco and the use of boost. Only obesity and the type of surgery received by the patient remained statistically significant at M12 and M36. In our study we identified several risk factors for acute and late skin reactions. The use of a boost was mainly related to the occurrence of fibrosis while the use of IMRT-type technique decreased the occurrence of skin erythema.

Hereditary benign telangiectasia: a case report.

Hereditary benign telangiectasia is an autosomal dominant inherited dermatosis with typical presentation of telangiectasia of the skin and lips. The cause is still unknown. It is a primary telangiectasia that develops during childhood without systemic symptoms. Clinically round, oval, dendritic, or punctate telangiectasias are present, mostly asymptomatic, and they may cause only aesthetic problems. Because a similar clinical picture can be seen in several other skin diseases that may manifest not only with vascular lesions of the skin but also with systemic involvement and possible serious complications, we must be aware of all differential diagnostic possibilities. We present the case of a 37-year-old patient with hereditary benign telangiectasia to emphasize the importance of establishing the correct diagnosis and presenting proper information about the disease in a patient with telangiectasia of the skin.

Snake Technique in Osler's Disease-Associated Thoracoabdominal Aortic Aneurysm.

Osler's disease is an autosomal dominant disorder characterized by epistaxis, telangiectases, and arteriovenous malformations of the internal organs. Herein, we report the first published case of dissecting thoracoabdominal aortic aneurysm repair in a 66-year-old woman with hereditary hemorrhagic telangiectasia associated with ACVRL1 gene mutations. We maintained the activated clotting time around 400 seconds during cardiopulmonary bypass to avoid lethal hemorrhage from telangiectases or arteriovenous malformations. The Adamkiewicz artery could not be identified on imaging studies preoperatively. Therefore, we used the snake technique for intercostal revascularization, which was effective in preventing paraplegia.

Giant, symptomatic mixed vascular malformation containing a cavernoma, developmental venous anomaly, and capillary telangiectasia in a 19-month-old infant.

Intracranial mixed vascular malformations (MVMs) are defined as any combination of a developmental venous anomaly (DVA), cerebral cavernous malformation (CCM), capillary telangiectasia (CTG), or arteriovenous malformation (AVM) within a single, contiguous lesion. However, most MVMs described in the literature contain only 2 pathologically discrete malformations; juxtaposition of 3 or more abnormalities in a single lesion remains exceedingly rare. We present the case of a 19-month-old female with new onset focal seizures and a 4-cm right basal ganglia lesion initially believed to be an embryonal neoplasm. She subsequently underwent gross total resection (GTR) of the lesion via a transsylvian-transinsular approach. Intraoperatively, the lesion appeared to be heterogenous and highly vascular, with areas of purplish-gray friable tissue. Pathology confirmed the lesion to be a MVM containing a CCM, CTG, and a DVA. This appears to be the first reported case of such a lesion confirmed on pathology in the literature.

Telangiectasias of the breasts showing diffuse dermal angiomatosis in a patient with diffuse livedo reticularis.

The breasts are a common location for diffuse dermal angiomatosis (DDA) in a context of obesity and macromastia. The typical clinical presentation includes erythematous or purplish plaques, reticulated telangiectasias, and sometimes livedo reticularis, often complicated by painful ulcerations of the breasts. Biopsy usually confirms a dermal proliferation of endothelial cells staining positively for CD31, CD34 and SMAa and negatively for HHV8. We report herein a woman with DDA of the breasts presenting as diffuse livedo reticularis and acrocyanosis, both long-standing and considered idiopathic following extensive investigations. Since a biopsy of the livedo did not document DDA features in our case, we suggest that our patient's livedo reticularis and telangiectasias could constitute a vascular predisposition for DDA, as its pathogenesis frequently involves an underlying disease involving ischemia, hypoxia, or hypercoagulability.