A 55-year-old woman had remarkably generalized telangiectasia. Large atypical lymphoid cells were found within the lumen of small vessels, and CD20 was positive in her third skin biopsy. She was diagnosed with intravascular large B-cell lymphoma (IVLBCL) and went into remission of the skin manifestations after seven courses of R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone) and four courses of intravenous high-dose methotrexate (HD MTX). To our knowledge, this is the first case report of IVLBCL with generalized telangiectasia in China. From a review of the literature, we found that generalized telangiectasia is a remarkable manifestation of intravascular lymphoma, and the differential diagnosis of intravascular lymphoma and panniculitis or vasculitis is very important. When the diagnosis is confusing, multiple skin biopsies are useful.

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly (TEBC) syndrome is a rare autosomal dominant condition, recently linked to the protein kinase D1 (PRKD1) gene. The phenotype of TEBC remains incomplete at this point. Our aim is to improve the characterization of the clinical and molecular aspects of the TEBC syndrome. We report on the 8th patient carrying a heterozygous de novo variation of PRKD1 c.2134G > A, p. (Val712Met) identified by trio exome sequencing. The proband presents with partial atrioventricular septal defect, brachydactyly, ectodermal dysplasia, telangiectasia that developed in childhood, intellectual disability with microcephaly, multicystic renal dysplasia and moderate hormonal resistance. In view of this 8th description and review of the literature, it appears that neurodevelopmental disorders and microcephaly are frequently associated with PRKD1 missense variants, adding to the four main clinical signs described initially in the TEBC syndrome. Further descriptions are required to confirm the observed endocrine and kidney abnormalities. This should contribute to a more comprehensive understanding of the phenotypic spectrum and may help establish genotype-phenotype correlations. In the context of genotype-first strategy, accurate patient descriptions are fundamental. Characterization of specific syndromic associations is essential for variant interpretation support and patient follow-up, even in very rare diseases, such as the TEBC syndrome.

Intravascular large B-cell lymphoma (IVLBCL) is a rare type of extranodal, diffuse, large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumen of small blood vessels, with no lymphadenopathy or masses. Herein, we report a cutaneous variant of IVLBCL that is rare in Asia. A healthy 73-year-old Japanese woman presented to our hospital with painful erythematous indurations and telangiectasia of the lower extremities, which was confirmed on dermoscopy. Physical examination revealed no systemic involvement, and laboratory parameters were within normal ranges. No abnormal fluorodeoxyglucose (FDG) uptake was detected on 18FDG positron emission tomography/computed tomography. Histopathological examination revealed proliferation and dilatation of blood vessels in the subcutis layer, occluded by CD20-positive atypical lymphoid cells. Thus, the patient was diagnosed with a cutaneous variant of IVLBCL without systemic symptoms. In conclusion, it is important to confirm telangiectasia using dermoscopy and perform skin biopsies in patients presenting with sudden-onset erythematous induration.

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Ataxia-telangiectasia (A-T) is a rare inherited syndrome that primarily presents as ataxia due to cerebellar involvement and dilated capillaries in the oculocutaneous region. But many more serious complications of the condition exist, due to which both the quality and length of life are severely affected. Some of these include opportunistic infections due to an abnormal immune system, various malignancies, and an increased sensitivity to ionizing radiation. Due to the involvement of multiple systems in the body, diagnosis of this condition could be tricky as it may manifest with uncommon signs like dystonic head movements seen in our case. We have presented the case of a 16-year-old male born out of a consanguineous marriage, with the major symptoms of walking difficulties, frequent falls, and jerky movements of the head. Similar or related complaints had been noted in the past in his siblings. Laboratory investigations revealed elevated levels of serum alpha-fetoprotein, while the confirmatory diagnosis was made by genetic testing of the ataxia-telangiectasia mutated (ATM) gene. The patient was treated with amantadine and clonazepam, along with speech therapy, but the prognosis remained poor due to the lack of curative treatment for A-T.

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.

Introduction: To report a cases series of retinal vascular occlusions with telangiectatic capillaries (TelCaps) seen on indocyanine green angiography (ICGA) and multimodal imaging. Methods: In this case series, a new finding (TelCaps) was seen on clinical examination, fundus evaluation, fluorescein angiography, ICGA, and optical coherence tomography (OCT). Results: This series comprised 3 patients with TelCaps findings on ICGA after retinal vascular occlusions. The patients\' ages ranged from 52 years to 71 years and the best-corrected visual acuity in the affected eye, from 20/25 to 20/80. Fundus evaluation showed small, hard exudates in the vascular termination close to the macula with a reduction of the foveal reflex. The OCT images showed marginal hyperreflectivity and inner hyporeflectivity that were suggestive of a TelCaps lesion, which was confirmed by hyperfluorescence in the late phase of ICGA. Conclusions: This study highlights the importance of performing multimodal imaging evaluation, including ICGA, in eyes with retinal vein occlusions for early identification and management of the associated lesions.

Hereditary hemorrhagic telangiectasia is a rare condition presenting with anemia requiring transfusion and nosebleeds often refractory to supportive therapy. We discuss a case of a male in his 60s with a history of epistaxis, anemia requiring transfusions, and acute on chronic worsening shortness of breath presenting for evaluation. He was diagnosed with hereditary hemorrhagic telangiectasia. In addition, he was found to have pulmonary arteriovenous malformations and nonbleeding gastric telangiectasias. The patient underwent coil embolization of pulmonary arteriovenous malformations with a resolution of his shortness of breath and his anemia improved with iron supplementation.

BACKGROUND: To discuss the clinical features of a patient with hereditary hemorrhagic telangiectasia (HHT).
METHODS: The clinical data of one patient with HHT are retrospectively analysed. In addition, we review the relevant literature.
RESULTS: A 32-year-old male patient was admitted to the hematology outpatient department of our hospital and presented with intermittent epistaxis for 24 years. In recent years, he was diagnosed with iron deficiency anemia. The nasal endoscopic examination showed telangiectasia at the front of the right-middle turbinate and the left nasal cavity. He had ENG genetic mutation positivity.
CONCLUSIONS: Patients with HHT may suffer from many complications, including bleeding, anemia, iron deficiency, and high-output heart failure. These patients may have telangiectasias and arteriovenous malformations in various organs.

TEMPI syndrome was first defined in 2011 and classified as a plasma cell neoplasm with associated paraneoplastic syndrome in 2016. The pathogenesis of the syndrome is not well understood. Recognition of a combination of telangiectasia, erythrocytosis with a high erythropoietin level, monoclonal gammopathy, perinephric fluid collection, and intrapulmonary shunt is the first step in managing the disease. Diagnoses are often delayed because the syndrome is rare and can be mistaken for other dermatological, renal, and pulmonary disorders. Without early diagnosis significant disability results from the pulmonary damage. The article we present here describes a clinical case of TEMPI-syndrome in a 58-year-old woman, which illustrates the difficulties associated with the timely recognition of this unusual disease. Here, we also review the clinical features of TEMPI syndrome, differential diagnosis and available treatment options, based on current literature. Although limited in number, with the addition of new patients to the literature, TEMPI syndrome is evolving into a well characterized multisystem syndrome. This rare disorder should not be missed, especially if the patient has a putative diagnosis of essential telangiectasia with a monoclonal gammopathy and polistemia. Increasing the awareness of clinicians about the disease and adding new patient data to the literature may contribute to a better understanding of the pathophysiology of the disease and standardization of treatment.