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.

Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.

Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and PIK3R1, part of the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM with overgrowth and megalencephaly CM. In this study, we present two young patients with a CM-like phenotype associated with cerebral anomalies and severe epilepsy. Pathogenic variants in PIK3CA and PIK3R1, as well as GNAQ and GNA11, were absent in affected cutaneous tissue biopsies. Instead, we identified two somatic pathogenic variants in the AKT3 gene. Subsequent analysis of the DNA obtained from surgically resected brain tissue of one of the two patients confirmed the presence of the AKT3 variant. Focal cortical dysplasia was also detected in this patient. Genetic analysis thus facilitated workup to reach a precise diagnosis for these patients, associating the vascular anomaly with the neurological symptoms. This study underscores the importance of searching for additional signs and symptoms to guide the diagnostic workup, especially in cases with atypical vascular malformations. In addition, it strongly emphasizes the significance of genotype-phenotype correlation studies in guiding clinicians' informed decision-making regarding patient care.

Transient abdominal telangiectasia of the newborn: Four new cases with abdominal distension.

Transient abdominal telangiectasia of the newborn (TATN) is a recently described entity. The majority of cases had no specific clinical context or trigger identified, but a minority occurred in the clinical context of transient increased intraabdominal pressure. We report four additional cases of TATN, all in the presence of transient abdominal distension, further supporting the causative relationship of abdominal distension to TATN.

Genital and Perigenital "W"-Shaped Telangiectasias in Women With Limited Cutaneous Systemic Sclerosis.

This case report describes 3 patients with limited cutaneous systemic sclerosis who were found to have telangiectasias affecting the vulva and the inguinal folds.

Erythematous capillary-lymphatic malformations mimicking blood vascular anomalies.

Superficial erythematous cutaneous vascular malformations are assumed to be blood vascular in origin, but cutaneous lymphatic malformations can contain blood and appear red. Management may be different and so an accurate diagnosis is important. Cutaneous malformations were investigated through 2D histology and 3D whole-mount histology. Two lesions were clinically considered as port-wine birthmarks and another 3 lesions as erythematous telangiectasias. The aims were (i) to demonstrate that cutaneous erythematous malformations including telangiectasia can represent a lymphatic phenotype, (ii) to determine if lesions represent expanded but otherwise normal or malformed lymphatics, and (iii) to determine if the presence of erythrocytes explained the red color. Microscopy revealed all lesions as lymphatic structures. Port-wine birthmarks proved to be cystic lesions, with nonuniform lymphatic marker expression and a disconnected lymphatic network suggesting a lymphatic malformation. Erythematous telangiectasias represented expanded but nonmalformed lymphatics. Blood within lymphatics appeared to explain the color. Blood-lymphatic shunts could be detected in the erythematous telangiectasia. In conclusion, erythematous cutaneous capillary lesions may be lymphatic in origin but clinically indistinguishable from blood vascular malformations. Biopsy is advised for correct phenotyping and management. Erythrocytes are the likely explanation for color accessing lymphatics through lympho-venous shunts.

An Unusual Case of Telangiectasias.

BACKGROUND: Telengiectasias are defined as persistent dilatation of small capillaries in the superficial dermis Case : A 26-year-old woman presented with red lesions, epistaxis, joint pains, color changes of the hands, and breathlessness. On clinical examination and investigations, a final diagnosis of mixed connective tissue disease (MCTD), with interstitial lung disease (ILD), with telangiectasias, and epistaxis was made. Telangiectasias and epistaxis are rare presentations of MCTD.

Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited.

PURPOSE: The Curaçao criteria are well-established diagnostic criteria for hereditary hemorrhagic telangiectasia (HHT), but they lack details regarding a predictive presentation of epistaxis and telangiectasias. This study collects and compares data in HHT and population cohorts to inform the application of these criteria. METHODS: In-person interviews regarding epistaxis and targeted examination for telangiectases in a general population cohort (n = 204) and an HHT cohort (n = 432) were conducted. RESULTS: Frequency of epistaxis, rather than intensity or duration, was the best discriminator of HHT. A cutoff of ≥4 nosebleeds per year alone yielded a diagnostic sensitivity of 97%, and specificity of 84%. The mean number of telangiectases at the sites investigated was 0.4 in the general population cohort and 26.5 in the HHT cohort. The most distinctive sites for telangiectases in HHT were lips and palmar fingers, whereas telangiectases of the face and dorsum of the hand were comparable in both cohorts. CONCLUSION: We propose that the Curaçao criteria be modified to include the following cutoffs: (1) epistaxis frequency of ≥4 nosebleeds per year and (2) telangiectasia count of at least 2 in characteristic locations (palmar aspect of fingers, lips, and oral cavity), and that cutaneous telangiectases at other sites not be considered relevant for diagnostic purposes.

Generalized Essential Telangiectasia.

This case report describes symmetrically distributed red to violaceous fine telangiectasias in a lacelike pattern on the dorsal feet and ankles.

Quantitative analysis validation for sclerotherapy treatment of lower limb telangiectasias.

BACKGROUND: The evaluation of sclerotherapy efficacy for lower limb telangiectasias, which is the standard treatment for such condition, is commonly assisted by scores based on before and after pictures. This method is marked by its subjectivity, which impairs the precision of studies on the subject, making it unfeasible to evaluate and compare different interventions. We hypothesize that a quantitative method for evaluating the effectiveness of sclerotherapy for lower limb telangiectasias may present more reproducible results. Reliable measurement methods and new technologies may become part of the clinical practice in the near future. METHODS: Before and after treatment photographs were analyzed using a quantitative method and compared with a validated qualitative method based on improvement scores. Reliability analysis of the methods was performed, applying the intraclass correlation coefficient (ICC) and kappa coefficient with quadratic weights (Fleiss Cohen), for analysis of inter-examiner and intra-examiner agreement in both evaluation methods. Convergent validity was evaluated by applying the Spearman test. To assess the applicability of the quantitative scale, the Mann-Whitney test was used. RESULTS: A better agreement between examiners is shown for the quantitative scale, with a mean kappa of .3986 (.251-.511) for qualitative analysis and a mean kappa of .788 (.655-.918) for quantitative analysis (P < .001 for all examiners). Convergent validity was achieved by correlation coefficients of .572 to .905 (P < .001). The quantitative scale results obtained between the specialists with different degrees of experience did not show statistical difference (seniors: 0.71 [-0.48/1.00] × juniors: 0.73 [-0.34/1.00]; P = .221). CONCLUSIONS: Convergent validity between both analyses has been achieved, but quantitative analysis has been shown to be more reliable and can be applied by professionals of any degree of experience. The validation of quantitative analysis is a major milestone for the development of new technology and automated, reliable, applications.

Comprehensive Next-Generation Sequencing Testing in a Patient with TEMPI Syndrome.

TEMPI syndrome is a new and poorly understood disease that is currently considered a type of plasma cell neoplasm with paraneoplastic manifestations. The TEMPI acronym defines the hallmarks of the syndrome: T for telangiectasia; E for erythrocytosis with elevated erythropoietin; M, monoclonal gammopathy; P, perinephric collections; and I, intrapulmonary shunting. Due to the marked erythrocytosis as the most common presenting feature, TEMPI is often misdiagnosed as polycythemia vera. However, unlike polycythemia vera, TEMPI is not associated with a JAK2 mutation. The pathogenesis of TEMPI syndrome is unknown, although a few hypothetical disease mechanisms have been previously discussed. Here we present a new case of TEMPI syndrome, discuss results of a next-generation sequencing (NGS) panel covering 1,425 known cancer-related genes, and review the current literature with focus on an update of the genetics of TEMPI syndrome. This is the first report of TEMPI that includes results of comprehensive NGS testing.