A Case of Perineal Hemangioma, External Genitalia Malformations, Lipomyelomeningocele, Vesicorenal Abnormalities, Imperforate Anus, and Skin Tag (PELVIS) Syndrome with Extensive Perineal Infantile Hemangioma

Abstract

PELVIS syndrome describes the constellation of perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag. A 2-month-old girl presented with infantile hemangioma on her perineum and genitalia with imperforate anus, rectovaginal fistula and perineal skin tag at birth. Under the impression of PELVIS syndrome, consequential spinal sonography was conducted and revealed an intrasacral meningocele without clinical neurologic deficit. The anorectal malformation was surgically corrected, she was taking oral propranolol for the cutaneous lesion, and she showed improvement and no complications.

INTRODUCTION

Infantile hemangiomas are the most common benign tumors, occurring in up to 10% of infants, and approximately 10% of infantile hemangiomas are located in the perineal area¹. In the case of perineal hemangioma, systemic malformations such as spinal, bony, and genitourinary system malformations and complications such as ulceration, infection, pain and impairment of function are more frequent¹. Several groups of patients with perineal hemangioma have been categorized by means of the following acronyms: PELVIS (perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag), SACRAL (spinal dysraphism, anogenital, cutaneous, renal and urologic anomalies, associated with an angioma of lumbosacral localization), and LUMBAR (lower body hemangioma, urogenital anomalies, ulceration, myelopathy, bony deformities, anorectal malformation, arterial anomalies, and renal anomalies) syndrome²,³,⁴. PELVIS syndrome emphasizes the association of perineal hemangiomas with congenital anomalies involving the anorectal tract, urinary tract, spine, and genitalia². We report the first Korean case of PELVIS syndrome and its treatment results. We report the first Korean case of PELVIS syndrome and its treatment results. We received the patient’s consent form about publishing all photographic materials.

CASE REPORT

A 2-month-old girl presented to the Department of Dermatology with red vascular patches on both buttocks and the anus, perineum and genitalia (Fig. 1A). The patient was born at full-term by normal spontaneous vaginal delivery with a weight of 2.7 kg and head circumference of 33.0 cm, she was the third child, and she had no family history of birth defects. Chromosome analysis revealed a normal female karyotype. At birth, the patient was diagnosed with imperforate anus with middle-type rectovaginal fistula, perineal skin tag and didelphys uterus (Fig. 1B, C). The imperforate anus, rectovaginal fistula and skin tag were surgically corrected on the 3rd day of birth. A red vascular patch around the perineal area that was not seen at birth was noted at 1.5 months of age during the observation after the surgery, and the lesion increased in size; thus the patient was referred to the Department of Dermatology at 2 months of age. On physical examination, hemangioma was observed from the labia major to the sacrum through the perineum bilaterally. Spinal sonography at 9 months of age showed 3.6×0.6×0.7-cm intrasacral meningocele, and she had no clinical neurologic deficit (Fig. 2). Echocardiography showed no abnormality in cardiac function. Brain sonography was normal, and a diagnosis of PELVIS syndrome was made on the basis of the clinical findings of perineal hemangioma and meningocele and a medical history of imperforate anus with rectovaginal fistula, didelphys uterus and skin tag. Oral propranolol was administered at initial dose of 1 mg/kg/day for the perineal hemangioma and up-titrated to 2.8 mg/kg/day after 4 months of starting initial dose of oral propranolol. The patient has been taking the maintenance dose of 2.5 mg/kg/day. The lesion started to improve after 4 months of treatment and gradually decreased in size until 16 months of treatment without any side effect of oral propranolol and complication, leaving a small area of vascular lesion in the perianal area (Fig. 3).

Fig. 1. (A) An extensive hemangioma located from the genital to sacral area through the perineum at 2 months of age. (B) An erythematous polypoid soft nodule (black arrowhead) on the perineal area with imperforate anus (white arrow) on the day of birth. (C) Didelphys uterus (arrowheads) was shown in coronary view of magnetic resonance imaging at birth.

Fig. 2. Coronary (A) and sagittal (B) spinal sonography of a 3.6×0.6×0.7-cm meningocele (arrowheads) in the intradural area of the lumbosacral junction at 9 months of age.

Fig. 3. The lesion was clinically improved after treatment of oral propranolol for (A) 4 months and (B) 16 months.

DISCUSSION

The clinical descriptions of reported cases of PELVIS syndrome since 1982 are shown in Table 1²,⁵,⁶,⁷,⁸,⁹,¹⁰,¹¹. Among the 6 features of PELVIS syndrome, most of the cases had more than 3 features, and only one case had 2 features with extensive hemangioma involving the visceral organs, such as the bladder and rectum. Our case had five features but did not have vesicorenal abnormalities. The published infantile hemangiomas were treated mostly with systemic corticosteroids and/or propranolol with the same dose of infantile hemangioma, 2.0~3.0 mg/kg/day, and some cases spontaneously regressed without treatment. However, anorectal and genital malformations had been surgically corrected, and one case showed complications such as urinary continence after the surgery⁵. None of them, including our case, had neurologic deficits.

Table 1. Clinical description and treatment of patients with PELVIS syndrome.

Reference	Sex	Hemangioma	Genitalia	Spinal abnormalities	Vesicorenal abnormalities	Anorectal malformations	Other	Follow-up and treatment for hemangioma
González Martín et al.7	F	Genitalia, perineum, lower Ext.	Undifferentiated and symmetric genitalia	ND	Bladder exstrophy, Rt. pyeloureteral duplication, Lt. renal agenesis	Anterior anus	None	Spontaneous regression
Goldberg et al.8	M	Rt. buttock	Scrotum bifid, torqued penis	LMM, Tethered cord	Rt. renal agenesis	Imperforate anus with rectoscrotal fistula	Skin tag	ND
	F	Vulva, Lt. buttock	Incomplete labium major	LMM, Tethered cord	Pelvic Lt. kidney with reflux	None	Skin tag	ND
	F	Sacrum, Lt. leg and foot	None	ND	None	Imperforate anus with rectal-fourchette fistula	Skin tag	Spontaneous regression
	F	Sacrum, lower Ext.	None	None	Hypoplastic Lt. kidney	Imperforate anus with rectovaginal fistula	Skin tag, Sacral bony deformity	ND
Bouchard et al.6	F	Buttocks, lower back, genitalia	Hypertrophied Lt. labium major, Sexual ambiguity	Tethered cord	None	Vestibular anus	None	Prednisone, Interferon
	F	Buttocks, perineum, vulva, Lt. thigh	Lt. hemiclitoris, Absence of labium minor, Labium major atrophy	Spina bifida	Elongated bladder, Ureteral reflux	Anterior anus	None	Prednisone, Interferon
Peláez Mata et al.9	F	Perivulvar	Hypertrophied Lt. labium major	None	Lt. renal agenesis	Anal atresia, recto-vestibular fistula	Skin tag	Spontaneous regression
Girard et al.2	M	Scrotum, perineum, buttocks, mid thighs	Torqued micropenis, incomplete migration of Lt. testis	None	None	None	None	Prednisolone
	F	Sacrum, Lt. buttock, vulva, Lt. thigh	2 Uterine cavities	None	Ureteral reflux	Anal atresia	None	Spontaneous regression
Berk et al.10	F	Sacrum, Genitalia, Coccyx	Horizontally divided Rt. labium	Tethered cord	None	Anterior anus	None	Topical corticosteroid
Kaushik et al.11	M	Sacrum, perineum, genitalia	Bibid scrotum, midshaft hypospadias	LMM, tethered cord	None	None	None	Propranolol, Prednisolone
Zalimas et al.5	F	Genitalia, perineum, Lt. thigh	Persistent cloaca	Tethered cord	Persistent cloaca	Persistent cloaca	None	Corticosteroid, Propranolol, Nd:YAG laser, PDL
Our case	F	Genitalia, perineum, sacrum	Didelphys uterus	Meningocele	None	Imperforate anus with rectovaginal fistula	Skin tag	Propranolol

F: female, M: male, Ext.: extremities, Rt.: right, Lt.: left, LMM: lipomyelomeningocele, ND: not done, PDL: pulsed dye laser.

Two-thirds of patients with perineal hemangioma have associated anomalies, including urinary tract, sacrum, spine, and genitalia⁶. In addition, a prospective study revealed that approximately 50% of infantile hemangiomas in the lumbosacral area had an increased risk for intraspinal abnormality¹². The proposal of PELVIS syndrome by Girard et al. emphasized that extensive perineal hemangioma could be accompanied by genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus and skin tag². Our patient had an extensive perineal hemangioma involving both buttocks and the genitalia, and closed observation for the accompanying abnormalities resulted in the detection of intrasacral meningocele without neurologic symptoms at 9 months old.

In conclusion, we report a case of PELVIS syndrome with perineal hemangioma, meningocele, imperforate anus with rectovaginal fistula, didelphys uterus, and skin tag. Imperforate anus, rectovaginal fistula and skin tag were surgically corrected on the 3rd day of birth and showed no clinical complications 19 months after the surgery. Perineal hemangioma was treated with oral propranolol, and the didelphys uterus and meningocele were closely monitored without neurologic symptoms at 19 months old. Dermatologists should be aware of the risk of associated malformation with extensive perineal hemangioma because neurologic and urogenital abnormalities can be found and treated appropriately early. To the best of our knowledge, this is the first report of PELVIS syndrome solely treated with oral propranolol for perineal hemangioma.