Segmental Hemangiomas Research Articles

Characteristic patterns of segmental infantile hemangiomas in Indian children: A descriptive study.

Approximately 18% of infantile hemangiomas are segmental. These are larger than other infantile hemangiomas, associated with higher rate of complications and developmental anomalies, and often require treatment. They follow nonrandom patterns on the head and neck as well as extremities which are probably related to embryologic development. Our study aimed to describe segmental patterns of infantile hemangiomas in Indian children, with associated anatomical abnormalities if any. Over a 9-year period, 59 infants presenting with lesions classified as segmental infantile hemangiomas were evaluated and analyzed. Associated developmental anomalies were assessed and recorded. In addition, patterns of "indeterminate" infantile hemangiomas in another 43 patients were analyzed. There were 14 male and 45 female infants with an average birth weight of 2.7 ± 0.726 kg in our study; the average age at onset was 1 ± 1.25 months with most (50.8%) lesions localized to the head and neck area. Mapping of lesions showed that the most common facial segments involved were mandibular (33%) and maxillary (30%). However, additional repetitive patterns not previously described (such as an "inverted comma" pattern on the chest, bilateral neck involvement and unilateral labium involvement) were seen in our patients. Common local complications were ulceration (27%), amblyopia and nasal obstruction (3% each). Mapping of the additional 43 patients with indeterminate infantile hemangiomas also showed repetitive though incomplete patterns. Relatively small number of patients. Segmental infantile hemangiomas present as large, distinctively patterned lesions, even on the trunk and genitalia. These patterns are probably based on embryologic developmental patterns. In addition, indeterminate lesions also showed distinctive repetitive patterns. Our study suggests that additional segments may need to be defined, particularly on the trunk and genital area.

Pituitary Lesion in a Neonate

Summary The patient is a term girl who presented at 2 weeks of age with a large segmental facial hemangioma without PHACE syndrome (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, and eye anomalies). Magnetic resonance imaging (MRI) at 3 months of age (FIG 1) showed a pituitary hemangioma characterized by an enhancing, T1 isointense, T2 hyperintense sellar/suprasellar mass without susceptibility or diffusion restriction. The patient underwent a course of treatment with oral propranolol, which has previously been shown to be an effective treatment for intracranial hemangiomas. 1 Repeat imaging (FIG 2) after 9 months of treatment showed decreased size of the sellar/suprasellar mass with persistent enhancement.

Pure laparoscopic liver resection for giant liver hemangioma with extrahepatic growth based on preoperative 3-dimensional simulation: A case report

BackgroundPerforming laparoscopic liver resection for giant hemangiomas is challenging, and careful preoperative planning is essential. Controlling intraoperative bleeding and handling surgical instruments within a limited workspace is necessary.Case presentationIn the present case, the patient was a 38-year-old woman diagnosed with a 16-cm giant liver hemangioma in segment 5/6, with extrahepatic growth. Preoperative three-dimensional simulations for port placement and the laparoscopic view from the left upper abdomen were performed to complete the pure laparoscopic liver resection. The laparoscopic resection was then safely performed on the same way.ConclusionsPure laparoscopic resection could be applied to giant hemangiomas with extrahepatic growth, and the preoperative three-dimensional simulation of port placement and the laparoscopic view might be helpful when the intraabdominal workplace is restricted.

INTEREST OF PROPANOLOL IN THE TREATMENT OF INFANTIL HEMANGIOMES ABOUT A RETROSPECTIVE STUDY OF 94 CASES

Infantile hemangioma ( HI ) is the most common children ‘s vascular tumor . It is a benign tumor with essentially clinical diagnosis. Despite its benign character, treatment is required in many situations. This is a retrospective study of 94 outpatients treated with propranolol and followed in the pediatric plastic surgery department (surgery C) at the Rabat Children's Hospital for a period of 4 years from, 2012 to 2017. The average age of children treated was 3 months, with a female predominance (n = 60, 74%). Tuberous HI was the most common clinical type (n = 68, 70.1%), the single form was predominant (n = 85, 90%), cervico-cephalic localization was the most common (n = 75, 72.1%), labial localization accounted for 40% (n = 30), 6 segmental HIs were reported (6.4%) including 3 PHACES syndromes including Dandy Walker syndrome. The average diameter of HI was 4cm. Therapeutic indications were for : functional risk (n = 44, 43.5%), ulceration (n = 35, 43.5%), aesthetic risk (n = 20, 20%), and life risk (n = 35, 43.5%), the dosage was 3 mg / kg / day of propanolol . The average duration of treatment was 9 months, the tolerance was good. Only one case of malaise has been reported. Efficacy was very high with 79% success (excellent response (n = 22, 24%), good response (n = 52, 55%) The follow-up after the end of the treatment did not objectify any recurrence.

Large Infantile Hemangioma on the Face: Let’s ‘PHACE’ It

Background: Infantile hemangiomas (IH) are the most common benign (vascular) tumors in infancy but due to their natural self-limiting course do not necessarily need treatment; in case of ulceration, bleeding or potential deformity, treatment is necessary. Large segmental facial hemangiomas may be associated with PHACE syndrome. Case presentation: We present a case of a boy with a large segmental facial IH. Ulceration, size and location were indications for starting propranolol up to a dose of 3 mg/kg/day in three doses, eleven days after birth. Because of the location and distribution, PHACE syndrome had to be excluded: the patient was checked for possible brain, cardiac and vascular malformations and visual impairment. The IH improved. At the age of nine months, there were no adverse effects or IH progression. Discussion: Propranolol is a beta-blocker effective in treating IH. Its working mechanism has not been completely clarified. We provide a thorough description of our approach to the early propranolol treatment of this large segmental facial IH. Conclusion: Complicated IH like the one described here can be treated safely and effectively with propranolol; very early treatment initiation is recommended to prevent the development of anatomic deformities. Our patient was treated with propranolol 3 mg/kg/day in three doses in order to prevent future disfigurement when it is located in a high-risk area like the face. Further research is needed to create a uniform approach and universal guideline for the treatment of IH with propranolol.

PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause.

Infantile hemangiomas (IH) are the most common vascular tumor of infancy with an estimated 80,000 annual diagnoses in the United States. The genetic mechanisms underlying IH and the related multi-organ birth defect syndromes, PHACE (an acronym for Posterior fossa brain malformations, segmental facial Hemangiomas, Arterial anomalies, Cardiac defects, Eye anomalies, and sternal clefting or supraumbilical raphe) and LUMBAR (an acronym for Lower body hemangiomas, Urogenital anomalies, Myelopathy, Bone deformities, Anorectal malformations/Arterial anomalies, Renal anomalies) remain unsolved. With advances in next generation sequencing (NGS), genomic alterations have been identified in a wide range of vascular anomaly syndromes. We hypothesize that PHACE is a genetic disorder, caused by somatic mutations, likely in cancer genetic pathways. Identification of the genetic etiology will lead to improved diagnosis in PHACE syndrome and development of targeted therapies for IH and related congenital anomalies.

Ocular Complications in PHACE Syndrome: A True Association or a Coincidence?

To characterize the risk for ocular complications in patients with PHACE syndrome. This study included consecutive patients with PHACE syndrome who were seen at Lurie Children's Hospital of Chicago from January 2000 through May 2017. A complete ophthalmic examination was performed in all patients, with extra attention for findings typically associated with PHACE syndrome. Thirty patients (67% female, median age of onset 0.08 months) were included: 38 (93%) demonstrated a segmental infantile hemangioma distribution. Twenty-one (70%) cases had a periocular involvement, and 47% had an infantile hemangioma with a deep component. Among 21 patients with periocular distribution, 9 had ocular complications secondary to the periocular location (mainly ptosis, nasolacrimal duct obstruction, and refractive errors), and one had an ocular complication specifically associated with PHACE syndrome (Horner syndrome). None of the patients without periocular distribution had an ocular complication. In patients with PHACE syndrome who have a periocular infantile hemangioma, a complete eye examination is recommended. Although specific ocular anomalies related to PHACE syndrome are rare, serious ocular complications secondary to the location of the hemangioma may be present. Eye examination in patients with PHACE syndrome without a periocular infantile hemangioma distribution is likely of low yield.

The cerebellar “tilted telephone receiver sign” enables prenatal diagnosis of PHACES syndrome

To describe a unique posterior fossa neuroimaging characteristic of prenatal PHACES syndrome (PS): unilateral cerebellar hypoplasia (UCH) and ipsilateral posterior fossa (PF) cyst communicating with an asymmetrically distended 4th ventricle. The registries of seven prenatal diagnosis centers were searched for cases with PF findings and a postnatal diagnosis of PS. All records were evaluated for ultrasound and MRI findings and the postnatal outcome. PS was diagnosed after birth according to the consensus statement on diagnostic criteria for PS from 2009. The imaging findings of the PS fetuses were compared to a group of consecutive cases with fetal UCH, whose postnatal diagnosis was not PS. The PS group included 10 fetuses. All were referred due to UCH accompanied by an ipsilateral retrocerebellar cyst. All pregnancies resulted in livebirths, all newborns had a large segmental facial hemangioma. In all PS fetuses the affected cerebellar hemisphere was upwardly displaced by an ipsilateral PF cyst communicating with an asymmetrically distended 4th ventricle. An upwardly rotated and deviated vermis merged with the contralateral cerebellar peduncles forming an elongated oblique connection between the cerebellar hemispheres, resulting in a unique cerebellar shape, "a tilted telephone receiver sign" (TTRS), on the coronal plane through the upper vermis.The non-PS group included 11 fetuses with UCH: clastic cerebellar lesions (8) and a unilateral PF arachnoid cyst (3). The TTRS was not depicted in any of them (p<0.0005). The cerebellar TTRS is a specific fetal imaging feature of PHACES syndrome enabling its prenatal diagnosis.

Subglottic hemangioma: Understanding the association with facial segmental hemangioma in a beard distribution

ObjectiveA subglottic hemangioma (SGH) is a benign tumor of infancy that can cause severe obstruction of the airway. Infantile hemangiomas, in general, are the most common head and neck tumor in children, affecting 4–5% of the pediatric population. This retrospective cohort study characterizes subglottic infantile hemangiomas at a single vascular anomaly center over a 5-year period (2013–2017) during the era of propranolol treatment. MethodsQueried the Vascular Anomaly Database at Children's Hospital of Pittsburgh for all infantile hemangioma(s) and then identified case of subglottic hemangiomas. Characterized key features of presentation, natural history and management for subglottic hemangiomas. A secondary differentiation focused on differences between subglottic hemangiomas associated with Beard Distribution (BD) vs not (NBD). ResultsAnalysis of 761 cases of infantile hemangiomas demonstrated only 13 patients with subglottic hemangiomas (1.7%). Of those 13 patients, only 4 patients (30%) had BD while 2 patients (15%) had other cutaneous hemangiomas and 7 patients (55%) had no cutaneous hemangiomas. Secondarily, a total of 31 case of beard distribution cutaneous hemangiomas with 11 patients having oropharyngeal involvement (35%) but only 4 patients with subglottic hemangiomas (13%). Interestingly, 2 of the 4 BD patients had treatment failure on propranolol and required second line treatment with steroids or surgical excision while only 1 of 9 NBD patients failed propranolol treatment. As well the same 2 BD patients which failed propranolol also had PHACES syndrome. ConclusionSubglottic hemangiomas are a rare presentation of infantile hemangiomas but with significant morbidity. While the classic teaching that a segmental beard distribution hemangioma raises concern for a subglottic hemangioma, this cohort indicates subglottic hemangiomas occur in a NBD presentation (1.3%), and demonstrated only an approximate 10% incidence rate with a beard distribution. But more importantly, this study raises the question that beard distribution in setting of PHACES syndrome may herald a more recalcitrant and complicated natural history for a subglottic hemangioma. This is of significant concern as risk for CVA in setting of PHACES is highest with use of steroid treatment. None of our patients had high risk extra or intra cranial vascular arterial anomalies and no CVA were noted.

Infantile hemangioma with minimal or arrested growth as the skin manifestation of PHACE syndrome.

Infantile hemangiomas with minimal or arrested growth are vascular tumors with a proliferative component involving <25% of their total surface area. They are commonly described as localized lesions and are mainly located on the lower body. Little has been described about segmental forms on the face and their associations with PHACE syndrome. We carried out a multicenter, retrospective, case-series study involving 5 hospitals in Spain. Information was collected on cases of PHACE syndrome featuring infantile hemangiomas with minimal or arrested growth. The frontotemporal and maxillary areas were the most frequently involved sites in our series. The upper eyelid and upper lip were the 2 locations most frequently associated with proliferation and ulceration. Four patients experienced spontaneous resolution, and the rest had a very good cosmetic outcome with oral treatment. Cerebral and cervical arterial anomalies were the most frequent extracutaneous findings associated with PHACE, followed by cerebral and ocular anomalies. Some unique associated disorders were fructose intolerance and retinoblastoma. We present the largest case series of segmental facial infantile hemangiomas with minimal or arrested growth in PHACE syndrome and emphasize the importance of recognizing these lesions in early infancy, because they can indicate PHACE syndrome. The data presented suggest that infantile hemangiomas with minimal or arrested growth-associated PHACE syndrome does not seem to differ significantly from PHACE syndrome with classic infantile hemangiomas, and thus the same recommendations for diagnosis, management, and therapy should be followed. Future studies with more patients could contribute to enlighten this specific subset.

Saving PHACE

This three-week-old girl, the product of in vitro fertilization (IVF), was referred for evaluation of a prominent, raised right V1-V2, retroauricular infantile hemangioma (Fig 1). Her examination was otherwise normal. Magnetic resonance imaging of her brain with contrast and genomic microarray analysis were both unremarkable. Brain magnetic resonance angiography showed only an abnormal right carotid bifurcation with a narrowed right internal carotid artery. Treatment with propranolol resulted in involution and dramatic improvement of the hemangioma (Fig 2). FIGURE 2Patient segmental hemangioma after treatment with propranolol (age six months). View Large Image Figure Viewer Download Hi-res image

Propranolol: A miracle drug for infantile hemangioma associated with PHACES syndrome

We report successful treatment with propranolol in a 4-month-old preterm infant diagnosed as PHACES syndrome based on the presence of a massive facial hemangioma, myoclonic spasms, delayed motor milestones, and posterior fossa anomalies. PHACES is an acronym for posterior fossa brain malformation, cervicofacial segmental hemangioma, arterial anomalies, cardiac defects/coarctation of aorta, eye and endocrine abnormalities, sternal defect, and supraumbilical raphe. The hemangioma was progressively enlarging with ulceration and ocular occlusion. Propranolol was initiated after complete evaluation and resulted in significant regression of the hemangioma without any adverse events or recurrence over a 2-year follow-up period. Mechanism of action of propranolol includes vasoconstriction and inhibition of vascular endothelial growth factor. This case report highlights the importance of investigating all infants with large hemangiomas for syndromes such as PHACES and the need to rule out intracranial vascular anomalies before initiating propranolol.

Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.

PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41-52% of PHACE patients and can be associated with focal neurologic deficits, developmental delays, and/or intellectual disability. To better characterize the spectrum of structural brain and other intracranial anomalies in PHACE syndrome, MRI scans of the head/neck were retrospectively reviewed in 55 patients from the PHACE Syndrome International Clinical Registry and Genetic Repository. All registry patients with a diagnosis of definite PHACE syndrome who had MRI scans of satisfactory quality were included. Of 55 patients, 34 (62%) demonstrated ≥1 non-vascular intracranial anomaly; structural brain malformations were present in 19 (35%). There was no difference in the prevalence of brain anomalies between genders. Brain anomalies were more likely in patients with S1 and/or S2 distribution of facial hemangioma. The most common structural brain defects were cerebellar hypoplasia (25%) and fourth ventricle abnormalities (13%). Dandy-Walker complex and malformations of cortical development were present in 9% and 7%, respectively. Extra-axial findings such as pituitary anomalies (18%) and intracranial hemangiomas (18%) were also observed. Six patients (11%) had anomalies of the globes or optic nerve/chiasm detectable on MRI. Brain malformations comprise a diverse group of structural developmental anomalies that are common in patients with PHACE syndrome. Along with brain malformations, numerous abnormalities of the pituitary, meninges, and globes were observed, highlighting the need for careful radiologic assessment of these structures in the neuroimaging workup for PHACE syndrome.

Diagnostic criteria and treatment progress of PHACE syndrome

PHACE syndrome is a syndrome of multiple organ and multisystem abnormalities associated with infantile segmental hemangioma, characterized by abnormal posterior fossa development, infant hemangioma, aortic abnormalities, aortic coarctation and heart defects, eye anomalies and other symptoms. The incidence of the disease is low, but there exist life-threatening factors. Once clinically diagnosed, it should be highly valued and multidisciplinary consultation must be conducted. This article reviews the diagnostic criteria of PHACE syndrome and its associated facial segmental hemangioma, as well as the treatment and prognosis of brain abnormalities.

PHACE Syndrome with Large Facial Segmental Hemangioma and Cerebellar Hypoplasia

PHACE Syndrome with Large Facial Segmental Hemangioma and Cerebellar Hypoplasia

Segmental hemangioma of the head and neck: High prevalence of PHACE syndrome

Segmental hemangioma of the head and neck: High prevalence of PHACE syndrome

A rare face of “PHACE” syndrome with Dandy-Walker malformation, microphthalmia with leukocoria, hearing loss and involuting segmental facial hemangioma

The acronym “PHACE” refers to the syndromic association of posterior fossa anomalies, hemangioma, arterial lesions, cardiac abnormalities/coarctation of the aorta, and eye anomalies. Till now, less than 400 cases of PHACE syndrome have been reported in the medical literature. Its etiopathogenesis is still unknown, and a great deal of genetic and molecular research is required. Moreover, there is always a high probability of misdiagnosis due to the certain factors such as mildly symptomatic patients, hasty diagnosis of relatively common simulating syndromic entities, and low awareness among medical fraternity about the standard diagnostic criteria for PHACE syndrome. Therefore, we report here a case of PHACE syndrome in a 2-year-old female child presenting with Dandy-Walker malformation, microphthalmia, leukocoria, hearing loss, and regressing lesions of large facial infantile hemangioma.

Quoi de neuf en dermatologie pédiatrique ?

The association of a birth defect and a segmental hemangioma is well established, a consensus concerning evaluation and monitoring of infants with PHACE or LUMBAR syndromes has been published. The efficacy of propranolol in infantile hemangioma is proven; however there were still unresolved issues concerning the safety in children; after 8 years of use on thousands of children safety data collection did not show any unexpected side effects. Topical treatment of infantile hemangiomas with beta-blockers, such as timolol, is very popular, but recent publications revealed a significant systemic absorption that could be responsible for severe side effects, such as bradycardia, in low birthweight infants. As a consequence, this therapeutic option should be considered with caution. In the last 2 years mTOR inhibitors have been tested in low-flow vascular malformations with varying success, but progress remains to be done in the treatment of vascular abnormalities. Today, genetics has led to advances in the understanding of the pathophysiology and in the future targeted therapies could probably be feasible. Skin barrier deficiency is responsible for the development of allergic phenomena in atopic patients, since it has been shown that sensibilisation, even to food, could probably be induced by skin contact. Unfortunately, the topical treatment with crisaborole, a phosphodiesterase 4 inhibitor, does not look like a revolution in children atopic dermatitis, its efficacy seems equivalent to emollient application. In the field of infectious diseases, changes in viral outbreaks are the most reported. Furthermore epidemic Zika virus, enteroviruses are responsible for expanded dermatological manifestations and also severe meningoencephalitis. Paraviral character of various eruptions, such as gloves and socks syndrome or eruptive pseudoangiomatosis is challenged.

ВІСЦЕРАЛЬНІ ГЕМАНГІОМИ У ДІТЕЙ: ОСОБЛИВОСТІ КЛІНІЧНИХ ПРОЯВІВ, УСКЛАДНЕННЯ, ЛІКУВАННЯ.

Гемангіоми дихальних шляхів (ГДШ) і гемангіоми печінки (ГП) можуть мати тяжкі клінічні прояви і супроводжуватися ускладненнями, небезпечними для життя. Метою роботи було визначити клінічні прояви, фактори ризику, ускладнення та можливості лікування гемангіом дихальних шляхів і печінки. У дослідження включено 16 дітей віком від 1 до 12 місяців за період 2011–2015 роки. ГДШ діагностовано у 7 пацієнтів, ГП – у 8 дітей. Діагноз ГДШ встановлювали за результатами трахеобронхоскопії, КТ з контрастуванням та МРТ. Для діагностики ГП використовували УЗД, КТ з контрастуванням, МРТ. Виділяли три види ГП: вогнищеві, багатовогнищеві та дифузні. 14 пацієнтів отримували пропранолол у дозі 2 мг кг/добу. В дитини з вогнищевою гемангіомою печінки лікування не проводилося, лише спостереження. ГДШ поєднувалися із сегментарними гемангіомами обличчя у 42,3 %, усі мультифокальні емангіоми печінки поєднувалися з численними інфантильними гемангіомами (ІГ) шкіри. Клінічні прояви ГДШ відзначали у віці від 2 до 5 місяців (у середньому 4,2 місяця). Мультифокальні гемангіоми печінки діагностовано у 62,5 %, дифузні – у 25,0 % та вогнищеві – в 12,5 %. Дифузні гемангіоми печінки клінічно проявлялися відразу після народження ознаками печінкової недостатності та гіпотиреоїдизмом. Лікування ІГ дихальних шляхів розпочинали відразу після встановлення діагнозу, термін початку лікування складав 2,5–4,5 місяця, за винятком однієї дитини, в якої лікування розпочато в 1 рік у зв’язку з пізно встановленим діагнозом. Тривалість лікування складала в середньому 16,1 місяця. У дітей з мультифокальними ІГ печінки лікування розпочинали у віці 2–5 місяців. У дітей з дифузними гемангіомами печінки пропранолол призначали у 14 і 20 днів. Тривалість лікування гемангіом печінки складала в середньому 10,1 місяця. На фоні лікування пропранололом інволюція пухлини настала у всіх пацієнтів. Ускладнень не було. ІГ дихальних шляхів поєднуються із сегментарними гемангіомами обличчя, мультифокальні гемангіоми печінки – з множинними ІГ шкіри. Дифузні гемангіоми печінки ускладнюються печінковою недостатністю і гіпотиреоїдизмом. Неселективний бета-блокатор пропранолол є ефективним у лікуванні ІГ дихальних шляхів і печінки.

Anesthesia for Complex Cardiovascular Surgery in a Patient With PHACES Syndrome and Review of the Literature

NFANTILE HEMANGIOMAS ARE a common benign vascular tumor occurring in 5% to 10% of infants 1 and resolve without complication or medical intervention. A subgroup of patients with hemangiomas have associated structural anomalies causing significant physiologic changes such as posterior fossa brain malformations, hemangiomas of the face, arterial cerebrovascular, cardiovascular, and eye anomalies that occur along with ventral defects (sternal defects or supraumbilical raphe). 1,2 These anomalies constitute the acronym PHACES, formally defined in 1996 by Freiden, 2 yet suspicion of the syndrome arose in 1978. It was recognized that certain cervicofacial hemangiomas were associated with intracranial abnormalities. 3 Patients are stratified into 2 categories: PHACES syndrome or possible PHACES syndrome depending on the number and type of anomalies. 4 Approximately 20% of infants with large cervicofacial hemangiomas 5 will have one of the associated anomalies of PHACES. 1 Two-thirds of patients with large segmental hemangiomas have at least 1 extracutaneous manifestation and 42% have at least 2. 4 Cerebrovascular anomalies are most common among PHACES-syndrome patients (87%) followed by cardiovascular (37%), eye (16%), ventral developmental defects (sternal defects; 7%-21%), as well as endocrine abnormalities (6%). 6,7 Hemangiomas are not always detectable in PHACES syndrome. 4 They can be absent or reduced in size due to