Klippel-Trenaunay syndrome or not? An exploration of atypical presentations.

Klippel-Trenaunay syndrome (KTS) is a rare, congenital disorder typically emerging in early infancy or childhood. The classic presentation of KTS is distinguished by a triad of clinical features: a port-wine stain, early-onset varicosities and limb overgrowth. However, a notable variant of KTS has been documented, characterised by limb shortening rather than lengthening, occasionally referred to as 'inverse KTS'. This report details two cases that display this unusual presentation-both patients had classical features of port-wine stain and varicose veins but both experienced shortening of the affected limb. Whether these cases represent a variant of KTS or a new clinical syndrome altogether is uncertain. They however offer valuable insights into the nuances and breadth of clinical manifestations associated with this syndrome.

Rare complication - skin atrophy - after systemic conservative therapy of infantile hemangioma.

BACKGROUND: Hemangiomas, also called infantile hemangiomas (IH) or hemangiomas of infancy are the most frequently seen benign vascular tumors of infancy. Different types of hemangiomas are described in the literature. The current approach is to assess the risk and, if needed, first line treatment is to initiate systemic propranolol. CASE PRESENTATION: A 3-month-old Caucasian female patient was brought as an outpatient. The main complaint was an infantile hemangioma in the facial area, which as per the parents' story appeared within a week of birth like a small reddish line and it rapidly grew. Systemic propranolol was proposed as a first-line treatment and the adverse effects were explained. The parents, afraid of the side effects, wanted to explore other possibilities such as topical timolol, however, since it had no effect, propranolol was initiated in the end. Hemangioma was completely reduced in size; however, a skin defect was detected. As per the dermatologist's counsel, topical cream was initiated. The skin defect was reduced but not fully healed. The child is still being monitored periodically. CONCLUSION: After successful treatment of hemangioma, we identified a skin defect, which was very similar to steroid-induced skin atrophy. However, we cannot attribute this to a single factor. The only thing that can be concluded is that the subject needs a thorough studying, since rate of infantile hemangioma is high, and pediatricians need a clear management strategy of how to approach skin atrophy after successfully treating the hemangioma itself.

Intramedullary spinal capillary hemangioma with secondary neurulation defect in children.

Intramedullary spinal capillary hemangioma is a rare occurrence in pediatric patients, and only limited cases have been reported. This study presents the first two cases of spinal capillary hemangioma co-present with retained medullary cord and one case of spinal capillary hemangioma with lumbosacral lipomatous malformation. Previous literature on ten patients with this pathology was reviewed. We speculated pathogenesis, imaging features, and histopathologic findings of the disease.

Spontaneous hemorrhage of spinal epidural capillary hemangioma resulting in hyperacute neurologic deficit: A case report.

INTRODUCTION: Spinal epidural capillary hemangioma is a very rare variety of tumors, usually with a predilection for the thoracic spine. CASE PRESENTATION: A 16-year-old female complained of hyperacute neurologic deficit progressed within hour, which presented by acute paraplegia, and loss of all sensations from her lower limbs up to her breasts. Neurologic exam revealed paralysis of lower limbs (0/5 on both legs) with a flaccid tone, absence of reflexes, weakness of the trunk with sensory level T4, bilateral flexion of plantar reflexes, and loss of sphincters' controls. Emergent magnetic resonance imaging showed a dumbbell-shaped epidural mass in the posterior aspect of the spinal canal at the T1-T2 level, measuring approximately 1.1 × 4.5 × 1.5 cm in size. The lesion was isointense on T1-weighted, hyperintense on T2-weighted, and a little enhancement after gadolinium administration. The surgery was obtained nearly 16 hours after paralysis, which eradicated the lesion with good hemostasis. Histological examination showed a well-organized vascular tissue that haphazardly arranged and confirmed the diagnosis of capillary hemangioma. Neurological improvement was quickly observed within days after surgery and further complete recovery was achieved 2 months after discharge. CONCLUSION: We report an extremely rare case of spinal epidural capillary hemangioma, where acute spontaneous hemorrhage in the lesion resulted in the hyperacute neurologic deficit within an hour. Since these are benign lesions, the immediate surgical intervention results in a very favorable prognosis and is considered the treatment of choice. Also, this case highlighted and rose the question of a better neurologic improvement in younger age patients with spinal cord injury.

Clinical characteristics of infantile hemangiomas with aggressive, persistent, and destructive ulceration.

BACKGROUND/OBJECTIVES: Ulceration is a common complication of infantile hemangioma (IH). Severe, persistent ulceration occurs in a minority of patients. This study aims to characterize the clinical features of IH with aggressive ulceration (AU). METHODS: Multicenter retrospective study of clinical features of IH with AU. RESULTS: Thirty-five patients with AU were identified and included in the study. The majority of AU occurred in segmental IH (23/35, 65%). Segmental IH with AU were large (≥10 cm2 ; 16/23, 69%, p < .001) with a thin (<3 mm) superficial component (16/23, 69%, p < .001). Localized IH with AU had a thick (>3 mm) superficial component (11/12, 92%, p < .001). All diaper area IH with AU (9/35) were segmental with thin superficial component (100%, p = .02). IH with AU in the head/neck (10/35) were more commonly localized (67%) and mixed (62.5%), while segmental, thick superficial morphology was more common on trunk (9/35) and upper extremities (7/35). CONCLUSIONS: IH resulting in AU differ in clinical features by anatomic site. Those in the diaper area are nearly always segmental with thin superficial component, whereas other sites tend to be localized, mixed, with thick superficial component. These distinct phenotypes may prove useful in the clinical setting for physicians to identify patterns of IH ulceration with increased risk of aggressive, persistent ulceration.

Perinatal Presentation of a Congenital Intramedullary Capillary Hemangioma in a Neonate Born with Hydrocephalus and Paraplegia.

Spinal intramedullary capillary hemangioma is a rare condition. Although most spinal/spinal cord hemangiomas are inborn in origin, perinatal presentation is uncommon. We present a neonate with an intramedullary hemangioma, born with communicating hydrocephalus and complete paraplegia. Spinal imagining showed an intradural mass with hemorrhagic foci, a low-lying conus medullaris, and scalloping of dorsal elements. Ventriculoperitoneal shunting was performed in an emergent setting, with cerebrospinal fluid showing a brownish appearance with high viscosity which implied a possible old hemorrhage. Tissue sample was taken from the spinal lesion in an elective setting. Histopathological examination revealed capillary lobules and extralobular large vessels resembling abnormal veins. The mentioned clues suggested that this congenital hemangioma had become symptomatic from the prenatal period. Though it is a are event, it should be kept in mind while evaluating a neonate with communicating hydrocephalus and weakness of extremities with or without cutaneous hemangiomatous stigmata.

A case of large airway and orbital hemangiomas with facial capillary malformation.

Infantile hemangiomas (IHs) are the most common pediatric vascular tumors, although their genetic etiology is largely unknown. Congenital capillary malformations (CMs) are associated with known somatic pathogenic variants, including GNAQ, GNA11, PIK3CA, and PIK3R1. Co-occurrence of a facial CM such as port wine stain and IH is not associated with any recognized vascular anomaly syndromes and rarely reported in the literature. We describe a case of a 5-week-old female patient with a large facial CM and extensive IHs of the lower lip, airway, and orbit who presented with airway compromise and responded to propranolol therapy.

Hybrid lung lesions in children with segmental infantile hemangiomas, a new association?

Infantile hemangiomas (IHs) are the most common tumors of infancy and, in rare instances, can present in the setting of congenital structural anomalies or as part of syndromic disorders. In this study, we present three cases of children with segmental IHs born with concurrent pulmonary anomalies: congenital pulmonary airway malformations and bronchopulmonary sequestration. To date, no known association between these entities and hemangiomas has been described.

Incidence and clinical factors associated with ulceration in infantile hemangiomas.

BACKGROUND: Ulceration is an important complication in infantile hemangiomas (IHs). Prior to the use of ß-blockers, the estimated incidence of this complication in a referral population was between 15% and 30%. The incidence and factors associated with ulceration have not been systematically studied since the emergence of ß-blocker therapy. OBJECTIVE: Examine the incidence and clinical predictors for ulceration in IHs. METHODS: Retrospective study at tertiary referral centers. RESULTS: Compared with a previous large pre-propranolol cohort study, ulceration occurred at a significantly lower incidence of 11.4%. Clinical factors associated with ulceration included partial segmental morphology, location in the diaper area, and size greater than 5 cm. Higher risk of ulceration in Black patients was observed, suggesting barriers to care including delayed diagnosis and referral to specialty care. LIMITATIONS: Retrospective design at tertiary referral centers. CONCLUSION: Compared with reports before the use of ß-blockers became widespread, the incidence of ulceration in IHs has decreased. However, it continues to be a relatively frequent complication of IH.

Infant in extremis: respiratory failure secondary to lower airway infantile hemangioma.

BACKGROUND: Infantile hemangiomas (IHs) are vascular tumors that commonly affect infants and usually regress spontaneously or can be easily treated as an outpatient with topical beta-blockers. However, IHs that present in the airway may cause life-threatening symptoms due to airway obstruction or risk of bleeding. Here we present the first documented case of an infant with rapid deterioration and acute respiratory failure secondary to a lower airway hemangioma. CASE PRESENTATION: This 3-month-old male initially presented in respiratory distress with symptoms consistent with a viral respiratory infection, however showed no clinical improvement with standard therapies. An urgent CT scan revealed a mass occluding the right mainstem bronchus. Upon transfer to a tertiary care facility, he developed acute respiratory failure requiring emergent intubation and single lung ventilation. The availability of multiple subspecialists allowed for stabilization of a critically ill child, expedited diagnosis, and ultimately initiation of life-saving treatment with beta blockers. After 17 total hospital days, he was extubated successfully and discharged home in good condition. CONCLUSIONS: While IH is a rare cause of infantile respiratory distress, we present multiple pearls for the general pediatrician for management of IHs of the airway.

Fetal cardiac capillary hemangioma resulting in tachyarrhythmia.

We present the case of a fetus with cardiac capillary hemangioma in the right atrial cavity. The tumor showed dramatic growth between the 28th and 32nd week of gestation and resulted in tachyarrhythmia. The patient was born at the 33 weeks of gestation weighing 2430 g via urgent cesarean section because the rapidly growing cardiac tumor caused incessant tachyarrhythmia, pericardial effusion, and fetal circulatory incompetence. Coronary angiography revealed that the right coronary artery drained into the tumor. Due to hemodynamic deterioration, the patient underwent subtotal resection of the tumor on the 2nd day after birth. Histopathological examination revealed an undifferentiated capillary hemangioma. The patient was discharged at the age of 86 days, as the tachyarrhythmia and hemodynamic incompetence had subsided; however, bradycardia and intermittent atrioventricular conduction disturbance gradually developed. Capillary hemangioma, a rare primary cardiac space-occupying tumor in children, can invade the conduction system.

Mediastinal infantile hemangioma with spinal canal extension and extensive gastrointestinal involvement complicated by respiratory failure.

Infantile hemangioma is the most common soft tissue tumor of infancy. Extensive organ involvement is rare. This report describes an infant with biopsy confirmed infantile hemangioma with diffuse organ involvement causing anemia and failure to thrive. Treatment was initiated with propranolol and led to initial improvement; however, course was complicated by several episodes of respiratory failure secondary to pulmonary edema. Propranolol therapy was interrupted for several months while patient was maintained on a diuretic regimen and treated with vincristine and high-dose corticosteroids. Patient was transitioned back to propranolol and is clinically thriving with objective improvement on radiographic imaging.

Immediate possible adverse event rates in infants treated with oral propranolol for infantile haemangiomas at an Australian urban tertiary hospital between 2016 and 2019.

BACKGROUND/OBJECTIVES: Infantile haemangiomas (IH) are common benign tumours of childhood. The current guideline recommended treatment is oral propranolol, the use of which for IH is relatively recent and there are no safety audits in Australian children published. As a result, it is a primarily inpatient initiated treatment. The aim of this study was to examine the short-term complication rates in infants treated with oral propranolol for IH. METHODS: Retrospective case note review of IH patients initiated on oral propranolol admitted to the day-unit of tertiary metropolitan hospital in an Australia capital city, from January 2016 to December 2019. RESULTS: Overall, 72 children were included in the study. Mean age at time of admission was 3.8 ± 2 months. Eight patients (11.1%) experienced complications during their initiation admission. Pulmonary complications (oxygen desaturation, wheeze, increased respiratory rate) was the most common type. No children required high-dependency or intensive care unit admission. The children who experienced complications had a mean age of 2.4 ± 1.2 months; t-test of equality of means found a relationship between propranolol-associated complication rate and age (p = 0.007). All other patient or admission characteristics were not associated with complication events (all p > 0.05). CONCLUSIONS: Propranolol is a safe, effective and well-tolerated treatment in Australian children with IH. This study demonstrates younger infants will most likely benefit from inpatient initiation. More research needs to be done to characterise the risk profile of propranolol initiation for IH.

Efficacy of intravenous propranolol for life-threatening diffuse neonatal hemangiomatosis.

Oral propranolol is recommended as the first-line agent for infantile hemangioma requiring systemic treatment. Life-threatening complications such as obstructive infantile hemangioma of the airway or infantile hepatic hemangioma associated with high-output congestive heart failure are major indications for the consideration of early treatment. We present the case of an infant with life-threatening diffuse neonatal hemangiomatosis, including airway obstruction due to subglottic hemangioma, heart failure due to multiple hepatic hemangiomas with portohepatic venous shunts, and severe anemia due to continuous gastrointestinal bleeding, in which treatment with intravenous propranolol proved successful.

Infantile/Capillary Hemangioma of the Uterine Corpus: A Rare Cause of Abnormal Genital Bleeding.

BACKGROUND: Infantile hemangiomas are vascular anomalies. However, they rarely cause genital bleeding. Here, we present the case of a young female with an endocavitary hemangioma who presented with abnormal uterine bleeding (AUB). CASE: The patient was an 8-year-old female with genital bleeding. Transabdominal pelvic ultrasound showed a 20-mm highly vascularized focal intrauterine endocavitary lesion. Vascular computerized tomography excluded vascular anomalies. Magnetic resonance imaging suggested a hemangioma. Minimally invasive open surgery was performed to remove the lesion. Subsequent pathology analyses confirmed an infantile/capillary hemangioma. CONCLUSIONS: Infantile hemangiomas are vascular anomalies that should be considered potential causes of AUB in early puberty. The study of these cases should include pelvic ultrasound and vascular magnetic resonance imaging. Experienced surgeons can successfully accomplish fertility-sparing surgical procedures. SUMMARY: We describe an unusual case of peripubertal AUB caused by an endocavitary capillary hemangioma. Management included fertility-sparing surgery and the complete resolution of symptoms.

Dual-energy CT lung perfusion characteristics in pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD/PCH): preliminary experience in 63 patients.

BACKGROUND: In the stratification of potential causes of PH, current guidelines recommend performing V/Q lung scintigraphy to screen for CTEPH. The recognition of CTEPH is based on the identification of lung segments or sub-segments without perfusion but preserved ventilation. The presence of mismatched perfusion defects has also been described in a small proportion of idiopathic pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD/PCH). Dual-energy CT lung perfusion changes have not been specifically investigated in these two entities. PURPOSE: To compare dual-energy CT (DECT) perfusion characteristics in PAH and PVOD/PCH, with specific interest in PE-type perfusion defects. MATERIALS AND METHODS: Sixty-three patients with idiopathic or heritable PAH (group A; n = 51) and PVOD/PCH (group B; n = 12) were investigated with DECT angiography with reconstruction of morphologic and perfusion images. RESULTS: The number of patients with abnormal perfusion did not differ between group A (35/51; 68.6%) and group B (6/12; 50%) (p = 0.31) nor did the mean number of segments with abnormal perfusion per patient (group A: 17.9 ± 4.9; group B: 18.3 ± 4.1; p = 0.91). The most frequent finding was the presence of patchy defects in group A (15/35; 42.9%) and a variable association of perfusion abnormalities in group B (4/6; 66.7%). The median percentage of segments with PE-type defects per patient was significantly higher in group B than in group A (p = 0.041). Two types of PE-type defects were depicted in 8 patients (group A: 5/51; 9.8%; group B: 3/12; 25%), superimposed on PH-related lung abnormalities (7/8) or normal lung (1/8). The iodine concentration was significantly lower in patients with abnormal perfusion (p < 0.001) but did not differ between groups. CONCLUSION: Perfusion abnormalities did not differ between the two groups at the exception of a higher median percentage of segments with PE-type defects in patients with PVOD/PCH. KEY POINTS: • Patchy perfusion defect was the most frequent pattern in PAH. • A variable association of perfusion abnormalities was seen in PVOD/PCH. • Lobular and PE-type perfusion defects larger than a sub-segment were depicted in both PAH and PVOD/PCH patients.

Endoscopic Transcanal and Transmastoid Laser-Assisted Resection of Middle Ear Capillary Hemangioma.

OBJECTIVE: To present a rare case of a middle ear capillary hemangioma in an adult. PATIENT: A 31-year-old woman with a 6-month history of left ear fullness, pressure, tinnitus, and progressive hearing loss. INTERVENTION: Endoscopic laser-assisted resection. MAIN OUTCOME MEASURES: Clinical, radiographic, and histopathological findings of a capillary hemangioma. RESULTS: Otoscopy revealed an erythematous and slightly pulsating multilobulated middle ear retrotympanic mass. Her audiogram demonstrated a left-sided mixed hearing loss with air-conduction thresholds in the severe-to-profound range. Computed tomography (CT) imaging was significant for total opacification of the left middle ear and mastoid air cells. She underwent a combined endoscopic transcanal and transmastoid excision of the mass with ossicular chain reconstruction. A KTP laser was used to ablate and shrink down the periphery of the lesion. Pathology of the specimen was consistent with a capillary hemangioma. The patient's pulsatile tinnitus and spontaneous vertigo resolved postoperatively. CONCLUSIONS: Capillary hemangiomas are an uncommon cause of vascular middle ear lesions in adults and typically present with symptoms of aural fullness, pulsatile tinnitus, conductive hearing loss, otalgia, and vertigo. Surgery resection provides definitive treatment and the use of laser ablation techniques can allow for hemostasis and excellent visualization.