Indian J Pediatr DOI 10.1007/s12098-015-1767-6
SCIENTIFIC LETTER
Multiple Segmental Hemangiomas Over One Half of the Body - A Rare Feature of PHACES Syndrome B. Dakshayani 1,2 & Asha Benakappa 1
Received: 23 December 2014 / Accepted: 6 April 2015 # Dr. K C Chaudhuri Foundation 2015
To the Editor: PHACES syndrome (OMIM 606529) is an association of large, plaque-like, Bsegmental^ hemangiomasH of the face, with one or more of the following anomalies: Pposterior fossa brain malformations, A-arterial lesions, C-cardiac abnormalities/ coarctation of aorta, E-eye abnormalities and S-sternal defect. An 1y 3mo old girl presented to us with history of reddish raised skin lesions on the face, since age of 15d. Gradually, similar multiple lesions appeared on left half of the body. They increased in size upto 5mo of age and later ulcerated, followed by healing with scarring. On examination, her radial pulses were well felt; femoral and dorsalis pedis pulses were weak. Multiple large segmental hemangiomas were present over left half of the body (Fig. 1). Written informed consent was obtained from the patient for publication of this case report and any accompanying images. On MRI, these lesions showed T1 isointensity, T2 hyperintensity with areas of blooming within. CT angio showed complete interruption of aortic arch type B, descending thoracic aorta supplied by patent ductus arteriosus (PDA) and persistent left sided superior venacava arising from coronary sinus without bridging veins. MRA brain showed hypoplastic left vertebral artery. MRI brain, thyroid function tests, ultrasound abdomen and lumbosacral spine were normal; stool for occult blood was negative.
Hemangiomas are the most common benign tumors of infancy and may be mistaken for other conditions depending on their stage of development. Nascent lesions may be confused with capillary malformations; naevus anaemicus or naevus depigmentosus. Superficial hemangiomas may resemble pyogenic granulomas, congenital hemangiomas, tufted angiomas or kaposiform hemangioendotheliomas. Deeper tumors may mimic venous or lymphatic malformations, dermoid cysts, infantile myofibromatosis, lipomas or soft tissue sarcomas. The correct diagnosis is based on typical features of hemangioma namely- onset after birth; followed by phases of proliferation, plateau and involution. On MRI they appear isointense (T1), hyperintense (T2), homogeneously enhancing soft tissue mass, with flow voids within and around. Histologically they stain positively for the glucose transporter protein,
* B. Dakshayani [email protected] 1
Department of Pediatrics, Bangalore Medical College and Research Institute, Bangalore, India
2
57, 3rd main road, K H B colony, MIG 1st stage, Basaweshvaranagar, Bangalore 79, India
Fig. 1 Photograph of the child showing multiple segmental hemangiomas over left half of the body
Indian J Pediatr
GLUT1 [1, 2]. None of the other conditions resembling hemangiomas are associated with PHACES syndrome. Hemangiomas the hallmark of PHACES syndrome are usually cervicofacial in location and are segmental (defined as large plaque like with geographic patterning over a territory of skin). Four facial segments are identified -segment1 (frontotemporal), segment 2 (maxillary), segment 3 (mandibular), segment 4 (frontonasal). In the present child large segmental hemangioma was located on segment 1 and 2 of face, left retroauricular area, volar aspect of left forearm, left interscapular area, posterior aspect of left lower limb, and small hemangiomas were seen over left foot and forearm. This pattern of distribution of hemangiomas has not been reported previously [1]. More than 20 different cardiovascular anomalies have been reported in children with PHACES syndrome, most common being coarctation of aorta. Our child had persistent left superior venacava (PLSVC) draining into coronary sinus. This has been reported in only 7 patients with PHACES syndrome till date and is not a diagnostic criteria [3–5]. Oral and local corticosteroids, propranolol, laser, vincristine and interferon are the modalities of treatment of hemangiomas [1]. We noted a partial reduction in size of deep hemangioma after dexamethasone.
To conclude, children with large segmental hemangioma anywhere on body should undergo detailed workup to rule out PHACES syndrome. Our child had two rare features namely, multiple large segmental hemangiomas over one half of the body and persistent left superior venacava. Conflict of Interest None. Source of Funding None.
References 1. 2.
3.
4.
5.
Puttgen KB. Diagnosis and management of infantile hemangiomas. Pediatr Clin N Am. 2014;61:383–402. Frieden IJ, Rogers M, Garzon MC. Conditions masquerading as infantile haemangioma. Australas J Dermatol. 2009; part 1–50(2): 77–97; part 2–50(3):153–68. Bayer ML, Frommelt PC, Blei F, et al. Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). Am J Cardiol. 2013;112:1948–52. Mama N, H’mida D, Lahmar I, Yacoubi MT, Tlili-Graiess K. PHAC ES syndrome associated with carcinoid endobronchial tumor [abstract]. Pediatr Radiol. 2014;44:621–4. Smith DS, LeeK K, Milczuka HA. Otolaryngologic manifestations of PHACE syndrome. Int J Pediatr Otorhinolaryngol. 2004;68:1445–50.
SCIENTIFIC LETTER
Multiple Segmental Hemangiomas Over One Half of the Body - A Rare Feature of PHACES Syndrome B. Dakshayani 1,2 & Asha Benakappa 1
Received: 23 December 2014 / Accepted: 6 April 2015 # Dr. K C Chaudhuri Foundation 2015
To the Editor: PHACES syndrome (OMIM 606529) is an association of large, plaque-like, Bsegmental^ hemangiomasH of the face, with one or more of the following anomalies: Pposterior fossa brain malformations, A-arterial lesions, C-cardiac abnormalities/ coarctation of aorta, E-eye abnormalities and S-sternal defect. An 1y 3mo old girl presented to us with history of reddish raised skin lesions on the face, since age of 15d. Gradually, similar multiple lesions appeared on left half of the body. They increased in size upto 5mo of age and later ulcerated, followed by healing with scarring. On examination, her radial pulses were well felt; femoral and dorsalis pedis pulses were weak. Multiple large segmental hemangiomas were present over left half of the body (Fig. 1). Written informed consent was obtained from the patient for publication of this case report and any accompanying images. On MRI, these lesions showed T1 isointensity, T2 hyperintensity with areas of blooming within. CT angio showed complete interruption of aortic arch type B, descending thoracic aorta supplied by patent ductus arteriosus (PDA) and persistent left sided superior venacava arising from coronary sinus without bridging veins. MRA brain showed hypoplastic left vertebral artery. MRI brain, thyroid function tests, ultrasound abdomen and lumbosacral spine were normal; stool for occult blood was negative.
Hemangiomas are the most common benign tumors of infancy and may be mistaken for other conditions depending on their stage of development. Nascent lesions may be confused with capillary malformations; naevus anaemicus or naevus depigmentosus. Superficial hemangiomas may resemble pyogenic granulomas, congenital hemangiomas, tufted angiomas or kaposiform hemangioendotheliomas. Deeper tumors may mimic venous or lymphatic malformations, dermoid cysts, infantile myofibromatosis, lipomas or soft tissue sarcomas. The correct diagnosis is based on typical features of hemangioma namely- onset after birth; followed by phases of proliferation, plateau and involution. On MRI they appear isointense (T1), hyperintense (T2), homogeneously enhancing soft tissue mass, with flow voids within and around. Histologically they stain positively for the glucose transporter protein,
* B. Dakshayani [email protected] 1
Department of Pediatrics, Bangalore Medical College and Research Institute, Bangalore, India
2
57, 3rd main road, K H B colony, MIG 1st stage, Basaweshvaranagar, Bangalore 79, India
Fig. 1 Photograph of the child showing multiple segmental hemangiomas over left half of the body
Indian J Pediatr
GLUT1 [1, 2]. None of the other conditions resembling hemangiomas are associated with PHACES syndrome. Hemangiomas the hallmark of PHACES syndrome are usually cervicofacial in location and are segmental (defined as large plaque like with geographic patterning over a territory of skin). Four facial segments are identified -segment1 (frontotemporal), segment 2 (maxillary), segment 3 (mandibular), segment 4 (frontonasal). In the present child large segmental hemangioma was located on segment 1 and 2 of face, left retroauricular area, volar aspect of left forearm, left interscapular area, posterior aspect of left lower limb, and small hemangiomas were seen over left foot and forearm. This pattern of distribution of hemangiomas has not been reported previously [1]. More than 20 different cardiovascular anomalies have been reported in children with PHACES syndrome, most common being coarctation of aorta. Our child had persistent left superior venacava (PLSVC) draining into coronary sinus. This has been reported in only 7 patients with PHACES syndrome till date and is not a diagnostic criteria [3–5]. Oral and local corticosteroids, propranolol, laser, vincristine and interferon are the modalities of treatment of hemangiomas [1]. We noted a partial reduction in size of deep hemangioma after dexamethasone.
To conclude, children with large segmental hemangioma anywhere on body should undergo detailed workup to rule out PHACES syndrome. Our child had two rare features namely, multiple large segmental hemangiomas over one half of the body and persistent left superior venacava. Conflict of Interest None. Source of Funding None.
References 1. 2.
3.
4.
5.
Puttgen KB. Diagnosis and management of infantile hemangiomas. Pediatr Clin N Am. 2014;61:383–402. Frieden IJ, Rogers M, Garzon MC. Conditions masquerading as infantile haemangioma. Australas J Dermatol. 2009; part 1–50(2): 77–97; part 2–50(3):153–68. Bayer ML, Frommelt PC, Blei F, et al. Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). Am J Cardiol. 2013;112:1948–52. Mama N, H’mida D, Lahmar I, Yacoubi MT, Tlili-Graiess K. PHAC ES syndrome associated with carcinoid endobronchial tumor [abstract]. Pediatr Radiol. 2014;44:621–4. Smith DS, LeeK K, Milczuka HA. Otolaryngologic manifestations of PHACE syndrome. Int J Pediatr Otorhinolaryngol. 2004;68:1445–50.
