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Ugeskr Laeger 2022 May;184(19)

Neurokirurgisk Afdeling, Odense Universitetshospital.

Capillary malformations - arteriovenous malformation, hereditary hemorrhagic telangiectasia and Sturge-Weber syndrome - are rare diseases in which cutaneous capillary malformations (CM) may be associated with cerebral vascular malformations. The clinical presentation of each disease is described with focus on how to distinguish them in the clinic and differential diagnoses are listed. This review finds that upon thorough and careful examination of patients, cutaneous CM might be a diagnostic hallmark for underlying disease and therefore a significant clinical observation. Read More

Radiol Case Rep 2022 Jul 6;17(7):2353-2361. Epub 2022 May 6.

Department of Radiology, Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Vietnam.

Pulmonary arteriovenous malformation, also known as an arteriovenous fistula, is typically a congenital disease caused by structural deficiencies, particularly the lack of capillary wall development, leading to the abnormal dilation of the pulmonary capillaries. The majority of pulmonary arteriovenous malformation cases are associated with Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia. Pulmonary arteriovenous malformation rarely occurs due to chest trauma. Read More

Int J Environ Res Public Health 2022 May 5;19(9). Epub 2022 May 5.

Shaanxi Key Laboratory of Ultrasound, School of Physics and Information Technology, Shaanxi Normal University, Xi'an 710062, China.

The development of appropriate photothermal detection of skin diseases to meet complex clinical demands is an urgent challenge for the prevention and therapy of skin cancer. An extensive body of literature has ignored all high-order harmonics above the second order and their influences on low-order harmonics. In this paper, a new iterative numerical method is developed for solving the nonlinear thermal diffusion equation to improve nonlinear photothermal detection for the noninvasive assessment of the thickness of port-wine stain (PWS). Read More

Ecotoxicol Environ Saf 2022 Jun 10;238:113620. Epub 2022 May 10.

University of Chinese Academy of Sciences (Chongqing), Chongqing Institute of Green and Intelligent Technology, Chinese Academy of Sciences, Beibei, 400714 Chongqing, China. Electronic address:

Sulfamethoxazole (SMX) is a widespread broad-spectrum bacteriostatic antibiotic. Its residual is frequently detected in the water and may therefore bioaccumulate in the brain of aquatic organisms via blood circulation. Brain capillaries toxicity is very important for brain development. Read More

J Dermatol 2022 May 13. Epub 2022 May 13.

Department of Dermatology, Japanese Red Cross Saitama Hospital, Saitama, Japan.

Ital J Pediatr 2022 May 12;48(1):71. Epub 2022 May 12.

Dermatology Unit, Bambino Gesù Children's Hospital-IRCCS, P.zza St. Onofrio 4, 00165, Rome, Italy.

Background: Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined "PIK3CA-related overgrowth spectrum".

Case Presentation: We report a 22-months-old female presenting an uncommon phenotype associated with a genetic mosaicism in the PIK3CA gene, detected on DNA extracted from blood peripheral and tissue biopsy. Read More

Orphanet J Rare Dis 2022 05 7;17(1):189. Epub 2022 May 7.

Interventional Radiology, Nemours Children's Hospital, Orlando, FL, USA.

Background: PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes (including overgrowth and vascular malformations) that vary significantly in their severity; every case is unique, leading to different, complex experiences. Here, we aim to describe the PROS experience from the patients' and caregivers' points of view, from onset to diagnosis to treatment and support. Read More

BMC Ophthalmol 2022 May 6;22(1):205. Epub 2022 May 6.

Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.

Background: To report the multimodal imaging and treatment of fifteen retinal capillary hemangioblastomas (RCHs) associated with Von Hippel-Lindau syndrome in a monocular patient during a long-term following-up, which supply high-resolution exquisite SS-OCTA images (VG200; SVision Imaging, Ltd., Luoyang, China) and management experience about multiple RCHs.

Case Presentation: A 34-year-old monocular male patient complained decreased visual acuity (20/100) without pain and redness in the left eye five years ago. Read More

Cureus 2022 Mar 30;14(3):e23669. Epub 2022 Mar 30.

Pathology and Laboratory Medicine, King Faisal Hospital, Makkah, SAU.

Eccrine angiomatous hamartoma (EAH) is a rare, benign, slow-growing cutaneous lesion characterized by hamartomatous proliferation of the eccrine glands and vascular structures. It usually arises in early childhood; however, cases in adults have also been reported. It is diagnosed based on the clinical features of the lesion as well as the histopathological findings of the excised tissue. Read More

Cureus 2022 Mar 30;14(3):e23646. Epub 2022 Mar 30.

Pathology and Laboratory Medicine, Augusta University Medical College of Georgia, Augusta, USA.

An arteriovenous malformation (AVM) is a vascular lesion most frequently encountered in the brain, lungs, colon, and soft tissues of the extremities. However, rarely, an AVM may develop in the uterus, where it can cause abnormal and even life-threatening uterine bleeding. Here, we present the case of a 41-year-old G6P6 woman with abnormal uterine bleeding which resulted in a hemoglobin level of 10. Read More

Pediatr Dermatol 2022 May 3. Epub 2022 May 3.

Department of Dermatology and Venereology, Hospital de Braga, Braga, Portugal.

A 23-day-old boy with prenatal diagnosis of basilar artery aneurysm presented with multiple congenital red patches consistent with capillary malformations. Genetic testing confirmed the presence of a heterozygous pathogenic variant of the RASA1 gene, confirming the diagnosis of capillary malformation-arteriovenous malformation (CM-AVM) syndrome. This case illustrates an atypical presentation of the RASA1 associated CM-AVM syndrome, with the intracranial vascular malformation diagnosis preceding the identification of the skin lesions. Read More

Indian J Hematol Blood Transfus 2022 Apr 25;38(2):366-372. Epub 2021 Aug 25.

Division of Pediatric Hematology, Department of Pediatrics, Kocaeli University, Umuttepe, 41380 Kocaeli, Turkey.

Although congenital erythrocytosis (CE), an inherited disorder, impairs pediatric quality of life, physicians often overlook high hemoglobin (Hgb) levels and its symptoms due to lack of knowledge of age-adjusted pediatric Hgb levels and CE's rarity. In a retrospective, single-center study, data from hospital records of pediatric patients diagnosed with CE were evaluated. Twenty-six patients from 25 families (80. Read More

Ann Med Surg (Lond) 2022 Apr 29;76:103531. Epub 2022 Mar 29.

Kathmandu University School of Medical Sciences, Dhulikhel Hospital, Dhulikhel, 45210, Nepal.

Vascular malformations are developmental anomalies occurring due to defective vasculogenesis. Depending on the number of vessels involved, they are subgrouped into simple or combined types. Combined vascular malformations are a rare clinical entity with two or more vascular malformations (capillary, venous, arteriovenous, lymphatic) present in one lesion. Read More

Cold Spring Harb Mol Case Stud 2022 04 28;8(3). Epub 2022 Apr 28.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98101, USA.

The megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth disorder caused by mosaic gain-of-function variants in It is characterized by megalencephaly or hemimegalencephaly, vascular malformations, somatic overgrowth, among other features. Epilepsy is commonly associated with MCAP, and a subset of individuals have cortical malformations requiring resective epilepsy surgery. Like other mosaic disorders, establishing a molecular diagnosis is largely achieved by screening lesional tissues (such as brain or skin), with a low diagnostic yield from peripheral tissues (such as blood). Read More

Clin Pathol 2022 Jan-Dec;15:2632010X221088966. Epub 2022 Apr 22.

Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA.

Herein we discuss the clinical course and subsequent autopsy of a female infant with trisomy 21 with balanced Rastelli Type "C" complete atrioventricular septal defect (AVSD), tetralogy of Fallot and right aortic arch with mirror image branching pattern who underwent a palliative right modified Blalock-Taussig-Thomas shunt (mBTTS) for hypoxemia from progressive right ventricular outflow tract obstruction. The baby was found to have multiple concomitant pathologic findings not typically seen with this constellation of cardiac anatomy. Autopsy revealed significant abdominal adhesions with near-complete stenosis of the transverse colon. Read More

Klin Monbl Augenheilkd 2022 04 26;239(4):548-551. Epub 2022 Apr 26.

Department of Ophthalmology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland.

Eur J Paediatr Neurol 2022 Apr 13;38:66-72. Epub 2022 Apr 13.

Department of Neuroradiology, ErasmusMC- Sophia Children's Hospital, Rotterdam, the Netherlands.

Background: Patients with Sturge-Weber syndrome type 1 (SWS1) have a port-wine birthmark (PWB) as cutaneous hallmark. Up to 35% of neonates with a high risk PWB develop SWS1. Clinical manifestations are severe and often progressive. Read More

J Med Case Rep 2022 Apr 21;16(1):167. Epub 2022 Apr 21.

Department of Ophthalmology, University of Duesseldorf, Moorenstr. 5, D-40225, Düsseldorf, Germany.

Background: Retinal arterial occlusive events in young patients are rare. However, because of physiological multifactorial adaptations during pregnancy, retinal vascular occlusive disease may occur spontaneously. In addition, a patent foramen ovale is a risk factor for an ischemic thromboembolic event. Read More

Actas Dermosifiliogr 2022 Apr 15. Epub 2022 Apr 15.

Sección de Cirugía Plástica y Reconstructiva, Departamento de Cirugía Pediátrica, Hospital Universitario La Paz, Madrid, Spain.

CLAPO syndrome (Capillary vascular malformation of the lower lip, Lymphatic malformations of the head and neck, Asymmetry and Partial/generalized Overgrowth) is a recently described entity, with very few published cases in the literature, and no standardized treatment. The objective of our study was to assess the efficacy and safety of PDL in patients with this syndrome. Seven patients were treated with two to four sessions of PDL at 595-nm wavelength. Read More

Abdom Radiol (NY) 2022 Jun 15;47(6):1961-1967. Epub 2022 Apr 15.

Department of Radiology, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.

We report a case of congenital capillary proliferation of the kidney (CCPK) along with the multimodality imaging findings. Four-day-old boy who had managed due to his mother's gestational diabetes underwent abdominal ultrasound and a mass was detected in the right kidney. On gray scale ultrasound, the mass exhibited a hyperechoic, slight lobulated shape and a circumscribed margin. Read More

Australas J Dermatol 2022 May 12;63(2):235-239. Epub 2022 Apr 12.

Dermatology, Phlebology and Fluid Mechanics Research Laboratory, St Vincent's Centre for Applied Medical Research, Darlinghurst, New South Wales, Australia.

Facial capillary malformations (CMs) become hypertrophic and nodular overtime and pose great therapeutic challenge. Here, we describe safe and effective use of tumescent-assisted sclerotherapy (TAS) in conjunction with yellow vascular laser (577 nm) for the treatment of HFCMs. Three patients underwent TAS were included in the case series, and complete resolution in nodularity was achieved in all patients with TAS, with no major complications such as skin necrosis, distal embolisation, blindness and neurological adverse events such as stroke or TIA occurred in any patients. Read More

Int J Surg Case Rep 2022 Apr 6;94:107052. Epub 2022 Apr 6.

Department of Surgery (CTVS), Dhulikhel Hospital, Kathmandu University Hospital, Nepal.

Introduction And Importance: Klippel-Trenaunay Syndrome (KTS) is a rare congenital vascular disorder characterized by capillary malformation, varicosities, and tissue overgrowth. It usually affects the unilateral lower extremities manifesting commonly as pain, localized rise of temperature, and venous tortuosity. However, in severe cases, ulceration, cellulitis, and chronic lymphatic malformation may be present. Read More

Chest 2022 Apr;161(4):e199-e202

Division of Cardiology, Department of Medicine, Western University, London, Canada.

In an asymptomatic 19-year-old who regularly underwent cardiopulmonary fitness testing for national lifeguard-accreditation, Xe MRI unexpectedly revealed an abnormally augmented RBC signal and RBC-to-alveolar-capillary-tissue ratio with spatially homogeneous ventilation, tissue barrier, and RBC images. Pulmonary function was normal, but cardiopulmonary follow-up including transthoracic and transesophageal echocardiogram, heart catheterization, and contrast-enhanced cardiac CT imaging led to the diagnosis of a large (20 × 27 mm) secundum atrial septal defect (ASD) with a net right-to-left shunt (Qp:Qs = 0.5) and normal pulmonary pressures. Read More

Retin Cases Brief Rep 2022 Mar 2. Epub 2022 Mar 2.

Department of Ophthalmology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan N-15, W-7, Kita-ku, Sapporo 060-8638, Japan.

Purpose: Retinal racemose hemangioma (RRH) is a rare, non-hereditary arteriovenous malformation characterized by the appearance of dilated and tortuous retinal vessels. RRH can develop complications associated with retinal ischemia, such as vitreous hemorrhage, retinal vein occlusion and neovascular glaucoma. Here, we report a case of RRH with retinal hypoperfusion detected by wide-field swept source optical coherence tomography angiography (OCTA), which was not unambiguously illustrated by fluorescein angiography (FA). Read More

JCI Insight 2022 May 9;7(9). Epub 2022 May 9.

Vascular and Interventional Radiology Translational laboratory, Division of Vascular and Interventional Radiology, Department of Radiology.

Patients with hereditary hemorrhagic telangiectasia (HHT) have arteriovenous malformations (AVMs) with genetic mutations involving the activin-A receptor like type 1 (ACVRL1 or ALK1) and endoglin (ENG). Recent studies have shown that Neuropilin-1 (NRP-1) inhibits ALK1. We investigated the expression of NRP-1 in livers of patients with HHT and found that there was a significant reduction in NRP-1 in perivascular smooth muscle cells (SMCs). Read More

Dermatol Reports 2022 Mar 14;14(1):9260. Epub 2022 Mar 14.

Neonatal Intensive Care Unit, AORN San Giuseppe Moscati, Avellino, Italy.

Angioma serpiginosum (AS) is a rare benign vascular lesion that typically arises in early childhood, with a prevalence in female, and then grow up over a period of months/years. It is characterized by small asymptomatic purple-red dots that cluster together and they do not disappear on diascopy. It is mainly localized on the arms but some cases on face and neck have been reported. Read More

J Formos Med Assoc 2022 Mar 31. Epub 2022 Mar 31.

Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.

Hereditary cerebral cavernous malformations (CCMs) are characterized by clustered dilated capillary-like vessels in the brain. Autosomal dominant polycystic kidney disease (PKD) is characterized by renal cysts and extra-renal abnormalities. We report a Taiwanese family in which the index case exhibited coexisting phenotypes of both CCMs and PKD. Read More

Int J Surg Case Rep 2022 Apr 28;93:106959. Epub 2022 Mar 28.

Department of Radiology, Mogadishu Somalia Turkish Training and Research Hospital, Somalia.

Introduction And Importance: Cystic scrotal lymphangiomas are very uncommon lesions caused by congenital lymphatic malformation. These tumors are usually located in the neck and axilla, occasionally in the mediastinum, retroperitoneum, and thigh. The scrotum and perineum are the least frequented sites. Read More

Eur J Med Genet 2022 May 26;65(5):104472. Epub 2022 Mar 26.

Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany. Electronic address:

Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, and glaucoma. Because the disease usually occurs sporadically, the concept of a lethal mutation surviving by mosaicism was proposed about 30 years ago. Read More

Radiol Case Rep 2022 May 21;17(5):1670-1673. Epub 2022 Mar 21.

Department of Radiology, Aga Khan University, Karachi, Pakistan.

Uterine arterio-venous malformation is characterized by abnormal direct arteriovenous communication without normal intervening capillary network. Acquired uterine arterio-venous malformation in post cesarean scar pregnancy is a rare entity. Classically the patients present with lower abdominal pain and per vaginal bleeding. Read More