Clinical and radiological characteristics of patients with retroperitoneal infantile hemangiomas.

BACKGROUND: Infantile hemangiomas (IHs) are the most common tumors of infancy. The objective was to identify clinical and radiological patterns in patients with retroperitoneal IHs. METHODS: We reviewed patients from our Vascular Anomalies Center database with IHs and abdominal imaging presenting from 1999 to 2017 to identify retroperitoneal involvement. RESULTS: Eleven patients (10 females, one male) with retroperitoneal IHs were found. Cutaneous IHs were present in eight patients (five segmental (45%), three multifocal (27%)) and absent in 1 (9%). Segmental hemangiomas involved the face in 2/5 (40%) and lower body in 3/5 (60%). The most common symptoms were dyspnea (n = 4), hematochezia (n = 3), and/or ulceration (n = 2). Three patients were asymptomatic. Involved retroperitoneal organs included the duodenum (n = 4), pancreas (n = 3), and adrenal glands (n = 1). Non-retroperitoneal organ involvement included the liver (n = 5), non-duodenal small intestine (n = 4), and large intestine (n = 3). Perivascular retroperitoneal hemangiomas were seen in 6/11 patients (55%), most commonly surrounding the aorta (n = 5), iliac vessels (n = 2), and/or inferior vena cava (n = 2). Three of 11 patients (27%) had LUMBAR based on a segmental, sacral hemangioma with tethered cord or anorectal malformation. Follow-up information was available in 6/11 patients (55%): 5 symptomatically improved with treatment (propranolol, corticosteroids, and/or vincristine), while one succumbed from extensive hepatic involvement. CONCLUSION: Retroperitoneal IHs are rare and tend to involve organs or surround vessels. Associated cutaneous IHs, if present, lack anatomical predilection and may be segmental or multifocal.

Internal venous anomalies in patients with a genital venous malformation.

BACKGROUND: Cutaneous venous malformation (VM) can be associated with internal vascular anomalies. Our objective was to investigate the frequency of internal vascular anomalies in patients with an isolated genital venous malformation to assess the utility of screening for internal findings. METHODS: We retrospectively reviewed our Vascular Anomalies Center database for patients with a focal genital venous malformation presenting between 1999 and 2016. Abdominal and pelvic imaging reports were reviewed for internal vascular anomalies. Endoscopy reports were also reviewed when available. RESULTS: A focal genital venous malformation was found in 22 patients (14 female, 8 male). Ten (45%) had a venous malformation of at least one internal structure, most commonly the pelvic floor (n = 6), colon (n = 5), urethra (n = 4), and/or bladder (n = 3). Eight experienced hematuria, hematochezia, and/or rectorrhagia secondary to their internal venous malformation. In patients with internal venous malformations, the mean age of symptom presentation was 7.3 years (range 1-22 years). Two patients had malformed inferior mesenteric and portal veins visible using ultrasonography and magnetic resonance imaging. They required surgical intervention to prevent thrombosis and decrease urogenital and gastrointestinal bleeding. CONCLUSION: Nearly half of our patients with a focal genital venous malformation had internal venous anomalies. Physicians should suspect urogenital or gastrointestinal venous malformations in patients with a focal genital venous malformation, especially if they develop hematuria, hematochezia, or rectorrhagia. Significant mesenteric venous trunk anomalies can also occur. Because these require surgical intervention, early recognition is important. We recommend that all patients with a focal genital venous malformation undergo abdominal and pelvic ultrasound to evaluate for internal venous anomalies.

Holmes heart and tetralogy of Fallot in association with PHACE.

PHACE is an association between large infantile hemangiomas and brain, arterial, cardiac, and/or ocular abnormalities. Aortic or subclavian aberrations are the most common cardiovascular anomalies in PHACE, whereas complex congenital heart disease is rare. We report a case of Holmes heart and three cases of tetralogy of Fallot in PHACE association.

Vascular anomaly cases for the pediatric hematologist oncologists-An interdisciplinary review.

Vascular anomalies (VAs) are classified as tumors or malformations depending on their clinical characteristics, pathological diagnosis, and genomic information. Diagnosis can be challenging because of the heterogeneity of clinical presentation; thus, the best diagnosis and care are provided by an interdisciplinary team of specialists. Over the past 10 years, an increasing number of pediatric hematologist/oncologists are caring for patients with VAs secondary to new medical therapy options and clinical trials. This paper focuses on complicated VA issues often seen by the pediatric hematologist/oncologist. The paper reviews clinical pearls on diagnosis, histology, radiology, and treatment options.

Self-limited neonatal periumbilical erythema.

We report three cases of neonatal, noninfectious, periumbilical erythema that resolved shortly after umbilical stump detachment. We hypothesize that these infants experienced an inflammatory and vasodilatory response during the normal umbilical cord separation process. We propose a new term: self-limited neonatal periumbilical erythema.

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.

Sonographic screening for Wilms tumor in children with CLOVES syndrome.

BACKGROUND: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. METHODS: We retrospectively reviewed patients with CLOVES syndrome in our Vascular Anomalies Center at Boston Children's Hospital between 1998 and 2016 to identify those who developed WT. A PubMed literature search was also conducted to find other patients with both conditions. RESULTS: A total of 122 patients with CLOVES syndrome were found in our database (mean age 7.7 years, range 0-53 years). Four patients developed WT; all were diagnosed by 2 years of age. The incidence of WT in our CLOVES patient population (3.3%) was significantly greater than the incidence of WT in the general population (1/10,000) (P < 0.001). Four additional patients with WT and CLOVES syndrome were identified in our literature review. CONCLUSION: Patients with CLOVES syndrome have an increased risk of WT. Given the benefits of early detection and treatment, children with CLOVES syndrome should be considered for quarterly abdominal ultrasonography until age 7 years. Screening may be most beneficial for patients under 3 years of age.

Clinical case series of pediatric hepatic angiosarcoma.

Hepatic angiosarcoma is a rare, aggressive, malignant neoplasm with fewer than 50 cases reported in children. Prognosis is poor, with a minority surviving beyond 2 years after diagnosis. We report eight cases of pediatric hepatic angiosarcoma, diagnosed at a mean age of 3 years. Seven were initially diagnosed with an infantile hepatic hemangioendothelioma (IHHE) or hemangioma and the eighth with a "vascular tumor." Two patients, who received liver transplant, survived. We suggest hepatic hemangiomas can rarely transform into angiosarcomas and a subset of IHHEs (Type II) are actually a low-grade form of angiosarcoma rather than a benign lesion.

Pediatric Pemphigus Herpetiformis: Case Report and Review of the Literature.

Pemphigus herpetiformis (PH) is a rare autoimmune bullous condition usually seen in adults and likely underrecognized in children. We describe a 2-year-old girl who presented with a chronic, generalized, blistering rash consistent with pediatric PH based on histology and immunohistochemistry and review the literature. Prognosis is generally more favorable in children than adults. Prednisone and dapsone should be considered as first-line agents to induce remission.