Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, neurodevelopmental delay, and brain anomalies. The objectives of this study were to describe the clinical and radiological features of MCAP, to suggest relevant clinical endpoints applicable in future trials of targeted drug therapy. Based on a French collaboration, we collected clinical features of 33 patients (21 females, 12 males, median age of 9.9 years) with MCAP carrying mosaic PIK3CA pathogenic variants. MRI images were reviewed for 21 patients. The main clinical features reported were macrocephaly at birth (20/31), postnatal macrocephaly (31/32), body/facial asymmetry (21/33), cutaneous capillary malformations (naevus flammeus 28/33, cutis marmorata 17/33). Intellectual disability was present in 15 patients. Among the MRI images reviewed, the neuroimaging findings were megalencephaly (20/21), thickening of corpus callosum (16/21), Chiari malformation (12/21), ventriculomegaly/hydrocephaly (10/21), cerebral asymmetry (6/21) and polymicrogyria (2/21). This study confirms the main known clinical features that defines MCAP syndrome. Taking into account the phenotypic heterogeneity in MCAP patients, in the context of emerging clinical trials, we suggest that patients should be evaluated based on the main neurocognitive expression on each patient.

Cutaneous collagenous vasculopathy: light and transmission electron microscopy.

Cutaneous collagenous vasculopathy is a rare acquired idiopathic microangiopathy characterized by progressive development of diffuse asymptomatic telangiectasias and histologically by accumulation of collagen type IV around the affected vessels. It is diagnosed by its clinical history, confirmed by light microscopy with collagen-specific immunostaining. We report a case of a patient with extensive acquired telangiectasias on the left arm, clinically resembling unilateral nevoid telangiectasia. Dilated blood vessels with thickened walls were observed in the dermis. Immunohistochemistry with collagen IV antibodies revealed marked collagen deposition around the vessels, confirming the diagnosis. Transmission electron microscopy observed duplicate and triplicate vascular basal membrane associated with deposition of amorphous material around the membranes.

Cutis marmorata in decompression sickness is associated with a patent foramen ovale.

A 39-year-old male commercial diver developed cutis marmorata after a dive. He had a full recovery after therapy in a hyperbaric oxygen chamber. Transthoracic echocardiography revealed an atrial septal aneurysm and a large shunt during normal respirations. This form of decompression sickness may progress to type II DCS, thus is important to identify and treat. Cutis marmorata as a result of diving is highly associated with an atrial septal defect or a large patent foramen ovale. It is particularly important to assess these patients for a right-to-left shunt as part of a medical evaluation prior to returning to diving.

Successful treatment of facial vascular skin diseases with a 577-nm pro-yellow laser.

BACKGROUND: Treatment of vascular skin diseases is one of the most important indications of the laser. AIMS: To evaluate the effectiveness of 577-nm pro-yellow laser in the treatment of some vascular skin diseases. PATIENTS/METHODS: Ninety-five patients with vascular skin diseases were included in this prospective monocentric study. They were classified into: port-wine stain birthmarks (n = 37), papulopustular rosacea (n = 20), facial telangiectasia (n = 16), and facial erythema (n = 22). All participants received a monthly session of 577-nm pro-yellow laser. Follow-up was done by comparing the photographs before and at every follow-up visit. RESULTS: At the final visit, there was a significant improvement (>50%) occurred in 24/37 (64.82%), 12/20 (60%), 10/16 (62.5%), and 19/22 (86.3%) cases and poor response occurred in 6/37 (16.2%), 2/20 (10%), 2/16 (12.5%), and 0/22 cases after a mean number of sessions 7.76 ± 2.28, 3.1 ± 1.8, 3.63 ± 1.12, and 1.8 ± 0.85 in port-wine stain, rosacea-, facial telangiectasia-, and facial erythema-treated groups, respectively. Transient irritation and erythema during the session were the only complications reported in the study. CONCLUSION: Facial port-wine stains, rosacea, telangiectasia, and erythema can be successfully treated with a single pass of 577-nm pro-yellow laser with a minimal side effect. Facial erythema showed the highest degree of success with the least number of sessions, while more sessions needed for the treatment of port-wine stain.

Cutaneous collagenous vasculopathy: light and transmission electron microscopy

Abstract Cutaneous collagenous vasculopathy is a rare acquired idiopathic microangiopathy characterized by progressive development of diffuse asymptomatic telangiectasias and histologically by accumulation of collagen type IV around the affected vessels. It is diagnosed by its clinical history, confirmed by light microscopy with collagen-specific immunostaining. We report a case of a patient with extensive acquired telangiectasias on the left arm, clinically resembling unilateral nevoid telangiectasia. Dilated blood vessels with thickened walls were observed in the dermis. Immunohistochemistry with collagen IV antibodies revealed marked collagen deposition around the vessels, confirming the diagnosis. Transmission electron microscopy observed duplicate and triplicate vascular basal membrane associated with deposition of amorphous material around the membranes.

Dermatoscopy of Vascular Lesions.

Cutaneous vascular lesions (VLs) represent a very common reason for dermatologic consultation for patients. In most cases, VLs are benign and self-limiting. However, because they often mimic malignant skin tumors, their correct and prompt identification is very important in daily practice. Dermoscopy may play a key role in achieving that purpose. This article reviews current knowledge of dermoscopic features of the most frequent VLs.

Does dermatoscopy facilitate the detection and diagnosis of vascular skin lesions? A case-control study.

BACKGROUND: During dermatoscope-guided surgical procedures, we noticed that vasculature was easily identified. This study investigated the use of dermatoscopy in detecting and diagnosing vascular skin lesions. METHODS: We retrieved records of patients with vascular skin lesions who underwent dermatoscopy over a 3 month period, in two outpatient clinics affiliated with a university teaching hospital. Our controls were similar patients where dermatoscopy was not performed. RESULTS: Our new findings are: 1, clinical and dermatoscopic examinations diagnosed significantly more patients with vascular skin lesions than clinical examinations alone (risk ratio: 1.36; 95% confidence interval: 1.10-1.67); 2, the detection rate increase was significant for cherry angiomas (p < 0.001), telangiectasias (p < 0.01) and spider angiomas (p < 0.01); 3, qualitatively, dermatoscopy revealed characteristic configurations, hues and colour saturations of the vascular skin lesions; and 4, the first reported dermatoscopic images of focal essential telangiectasia and petechial angioma. CONCLUSION: In our setting, clinical and dermatoscopic examinations significantly facilitated detecting and diagnosing vascular skin lesions, compared to clinical examination alone.

Ecografía Doppler color en malformaciones glomuvenosas con correlación clínica e histológica / Color Doppler Ultrasound Study of Glomuvenous Malformations with its Clinical and Histologic Correlations

Las malformaciones glomuvenosas son hamartomas originados por la presencia de células glómicas en el músculo liso de las estructuras vasculares. Presentamos una serie de 13 casos de malformaciones glomuvenosas evaluadas clínicamente, estudiadas con ecotomografía Doppler color y confirmadas histológicamente. En las ecografías se observaron en todos los casos formaciones dérmicas e hipodérmicas superficiales, moderadamente delimitadas, de ecoestructura mixta, pseudonodulares, hipoecogénicas y heterogéneas con áreas tubulares y lacunares anecogénicas pseudoquísticas. El 85% de los casos demostró presencia de vasos arteriales y venosos, con predominio de los de baja velocidad (≤ 15 cm/s) sin shunts arteriovenosos. No se visualizó compromiso de estructuras profundas ni flebolitos. Los hallazgos clínicos y ecográficos podrían ayudar a precisar mejor el diagnóstico, la planificación quirúrgica o el seguimiento no invasivo en estas entidades

Glomuvenous malformations are hamartomatous lesions characterized by the presence of glomus cells in the vascular smooth muscle. We present the clinical and color Doppler ultrasound features of a series of 13 cases of histologically confirmed glomuvenous malformations. In all cases, the ultrasound study revealed moderately delimited superficial dermal and hypodermal pseudonodular structures of mixed echogenicity, with hypoechoic and heterogeneous areas and anechoic, pseudocystic tubular and lacunar zones. Arterial and venous vessels, mainly with a low flow (≤ 15 cm/s) were observed in 85% of patients, but no arteriovenous shunts were present. Deeper structures were not affected and no phleboliths were detected. The clinical and ultrasound findings could facilitate diagnosis, surgical planning, and noninvasive follow-up in these tumors

Wilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study.

BACKGROUND: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor. OBJECTIVE: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM). METHODS: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor. Patients younger than 8 years of age at their last visit and not seen in more than 2 years were contacted for follow-up. RESULTS: The study comprised 89 patients: 67 with DCMO, 17 with M-CM, and 5 with an indeterminate diagnosis. No case of Wilms tumor was found in these groups. LIMITATIONS: Some patients were younger than 8 years of age at last follow-up visit and the sample size was small. CONCLUSION: Patients with DCMO do not appear to be at increased risk for Wilms tumor. Screening is probably unnecessary in DCMO unless there is associated hemihypertrophy. Although there were no cases in our cohort, there are 2 reports of M-CM associated with Wilms tumor in the literature.

Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome.

The authors present the case of a child with megalencephaly-capillary malformation syndrome who developed a rapidly progressive holocord syringomyelia that was treated surgically. A 3-year-old boy with megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome presented with several months of right leg weakness, worsening scoliosis, and increased seizures. An MRI study of the brain demonstrated a Chiari I malformation and massively dilated syringomyelia extending from C-2 to the conus medullaris. The patient underwent an urgent suboccipital craniectomy with C1-3 laminectomies to relieve the CSF outflow obstruction with significant clinical improvement. Surgery was complicated by bleeding from intracranial vascular malformations. This report describes a very rapidly developing, massive holocord syringomyelia related to CSF obstruction due to an unusual congenital brain malformation and associated vascular overgrowth at the site. Serial, premorbid MRI studies demonstrated the very rapid progression from no Chiari malformation, to progressively greater cerebellar tonsillar herniation, to holocord syrinx. This complication has never been reported in MCAP syndrome and should be considered in any affected MCAP patient with a progressive neurological decline, even if previous spine imaging findings were normal. Surgical complications due to hemorrhage also need to be considered in this vascular brain malformation.

Update on the Use of Ultrasound in Vascular Anomalies. / Actualización en ecografía de las anomalías vasculares.

Advances in our understanding of the biology and therapy of vascular anomalies have made this condition a common reason for consulting a dermatologist. In addition, multidisciplinary units have been created to manage patients with complex vascular anomalies. Although most vascular anomalies are diagnosed based on clinical findings, a thorough evaluation often requires additional imaging tests to determine the nature, extension, and prognosis of these lesions. Because it is fast and noninvasive, ultrasound is usually the first imaging test ordered. In the present review, we provide a state-of-the-art synthesis of key concepts in the ultrasound examination of vascular anomalies so that they are more accessible to clinicians and medical imaging specialists involved in the management of these lesions.

Histopathologic and ultrasound characteristics of cutaneous capillary malformations in a patient with capillary malformation-arteriovenous malformation syndrome.

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is an autosomal dominant disorder caused by mutations in RASA1. Multifocal, small, round-to-oval, pinkish-to-red cutaneous capillary malformations are seen in more than 90% of people with RASA1 mutations. These RASA1-associated cutaneous capillary malformations (CMs) can accompany internal or cutaneous arteriovenous malformation (AVM) or arteriovenous fistula to constitute CM-AVM syndrome. The cutaneous capillary malformations in CM-AVM syndrome are unusual in that some lesions have high-flow characteristics (according to Doppler or a white halo). We describe the histopathologic and corresponding ultrasound and Doppler findings in a CM from a patient with clinical CM-AVM syndrome and show that an arterial component is not present in the dermis or the most superficial portions of the subcutaneous fat but that there is ultrasound evidence that an AVM resides in the underlying adipose tissue.