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PELVIS Syndrome
Céline Girard, MD;
Michèle Bigorre, MD;
Bernard Guillot, MD;
Didier Bessis, MD
Arch Dermatol. 2006;142:884-888.
ABSTRACT
Background Large perineal hemangiomas can be associated with congenital anomalies, including anorectal, urinary tract, spine, and external genitalia malformations.
Observations We describe 2 infants with large sacral and perineal hemangiomas, with severe malformation of the external genitalia with ambiguous genitalia in one case and urinary tract malformations and imperforate anus in the other case. These cases are discussed, along with 9 previously reported cases with similar findings.
Conclusions Large perineal hemangiomas may constitute a distinctive group of associated anorectal, neurologic, renal or urinary tract, and genital defects. We propose the acronym PELVIS syndrome to emphasize the characteristic findings of this syndrome: perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag.
INTRODUCTION
Hemangiomas are generally benign vascular anomalies that are rarely associated with systemic malformations. In 1982, Gonzalez Martin et al1 initially described the condition in an 8-month-old girl with perineal hemangioma, left limb hypertrophy, complete vesical exstrophy, anterior anus, and external genitalia malformation with ambiguous genitalia. Few cases have been published since then, with the first case in the dermatologic literature being published by Goldberg et al2 in 1986. Herein, we report 2 further cases of infants with large sacral and perineal hemangiomas and visceral malformations, review the previously published cases, and propose the acronym PELVIS syndrome (perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag) to denote the characteristic findings of this syndrome.
REPORT OF CASES
CASE 1
An 8-month-old white boy was referred to the Department of Dermatology, Hôpital Saint-Eloi, Montpellier, France, for a massive perineal hemangioma. The child had an unremarkable gestation and was born at term by normal spontaneous vaginal delivery. He was the second child of nonconsanguineous parents; there was no family history of birth defects. Two characteristics marked his condition at birth: (1) Severe malformation of the external genitalia made sex assignment difficult, with ambiguous genitalia including micropenis torqued at 90°, median hypospadias, bifid scrotum, and incomplete migration of the left testis. Chromosome analysis showed a 46,XY karyotype, and polymerase chain reaction analysis was positive for the sex-determining region Y. The result of testicular stimulation with human chorionic gonadotropin3 was positive. (2) A large macular telangiectatic lesion over the scrotum and perineum rapidly grew when the neonate was age 2 weeks into a massive papulonodular and erythematous tumor on the buttocks and the lumbosacral area. A spine ultrasonographic examination performed at the age of 3 months was normal. Moreover, a worsening of chronic constipation since the age of 6 months associated with rectal bleeding and crying during defecation was noted by the parents.
At the age of 8 months, physical examination revealed a massive hemangioma located from the sacral area to the posterior midthighs, including the buttocks and the perineum, associated with an ulcerated cutaneous area adjacent to the anus (Figure 1). Magnetic resonance imaging showed a pelvic and perineal hemangioma of the left lateral wall of the bladder, pararectal region, and right lateral wall of the rectum (Figure 2). Cystoscopy demonstrated a large bladder hemangioma. Results of skin biopsy showed an extensive proliferation of small capillaries consistent with a capillary hemangioma. Treatment with daily oral corticosteroid therapy, 2 mg of prednisolone per kilogram of body weight, was begun. Within a few weeks, digestive symptoms resolved. One year later, with corticosteroid therapy at 0.3 mg/kg, his hemangioma lightened in color and was notably reduced in size. Ultrasonography showed a significant reduction of the bladder hemangioma. No surgical correction of external genitalia anomalies was attempted because of the risk of hemorrhage.
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Figure 1. Case 1. A, Massive hemangioma located from the sacral area to the posterior midthighs, including the buttocks and the perineum, associated with an ulcerated area adjacent to the anus. B, Perineal hemangioma with severe malformation of the external genitalia.
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Figure 2. Case 1. Pelvic magnetic resonance imaging showed a perineal hemangioma of the left laterovesical area, pararectal region, and right lateral wall of the rectum.
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CASE 2
An African full-term girl was born with an imperforate anus. An anoplasty procedure was performed during the neonatal period. At birth, the patient was noted to have a macular telangiectatic plaque over the sacrum, left buttock, genitalia, and left thigh. A few weeks later, a capillary hemangioma developed on these sites. No medical treatment or surgery was performed, and the cutaneous lesions remained stable. Physical examination at 1 year showed a solitary perineal orifice between the labia majora and a rightward deviation of the entire vulva, deformed by a large, subcutaneous, slightly red mass corresponding to a deep hemangioma extending to the left thigh with a few superficial red macules (Figure 3). Recurrent vaginal flow and frequent urinary tract infections were noted. A bilateral grade III ureteral reflux was seen on cystourethrography. Pelvic magnetic resonance imaging showed a mucocolpos (vagina distended with mucus), a large mucometra (uterus distended with mucus) with 2 uterine cavities, a bilateral kidney dilatation with left ureterohydronephrosis, and a diffuse and massive pelvic angiomatosis proliferation extending into the anterior muscles of the left thigh, the vaginal wall, and the uterine horn and surrounding the fallopian tube. Results of spine magnetic resonance imaging were normal. Angiography demonstrated a slow-flow capillary malformation of the pelvic floor vascularized by pudendal arteries. Vaginoplasty was performed to drain the mucocolpos. Corrective surgery for the ureteral reflux was not undertaken because of the risk of hemorrhage associated with the presence of the vascular tumor.
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Figure 3. Case 2. A, Single perineal orifice between the labia majora and rightward deviation of the entire vulva, deformed by a large subcutaneous mass with a slightly reddish color corresponding to a deep hemangioma. B, Hemangioma from the perineal area to the left thigh associated with hypertrophy of the thigh.
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COMMENT
Hemangiomas are the most common benign tumors of infancy, occurring in up to 10% of children by 1 year of age. Although hemangiomas may occur on any part of the body, they demonstrate a striking predilection for the head and neck region.4 Fewer than 10% of hemangiomas are located in the perineal area, where complications (including ulceration, infection, pain, hemorrhage, and impairment of function by mass effect) seem to be more frequent.5
In rare instances, hemangiomas can be associated with structural malformations. Frieden et al6 grouped various malformations occurring in association with large cephalic hemangiomas under the acronym PHACE (posterior fossa brain anomalies, hemangioma, arterial and cardiac anomalies, and eye defects). Occult dysraphism, including tethered cords, intraspinal lipomas, and tight fila terminalia, has been reported in association with hemangiomas in the lumbar region.7-8
The association of a perineal hemangioma with congenital anomalies, including anorectal, urinary tract, spine, and external genitalia malformations, is a classic feature noted in dermatology textbooks. To our knowledge, only 4 previous reports are found in the literature,1-2,9-10 and 11 patients (including our 2 observations) with perineal hemangioma associated with congenital malformations have been described (Table 1 and Table 2). In these patients, the digestive abnormalities were limited to anal malformations (observed in 8 [72.7%] of 11 patients). Five of the 8 had an imperforate anus, with the rectum connecting to the scrotum in 1 boy and to the vagina in 3 girls, and anterior anus was noted in the other 3 patients. No information is available for the fifth patient. Urinary tract abnormalities, including renal agenesis, ureteral reflux, and bladder anomalies, were also common and occurred in 7 (63.6%) of 11 patients. These abnormalities were asymptomatic in 3 patients and were revealed by pelvic imaging. Malformation of the external genitalia was noted in 7 (63.6%) of 11 patients, with torqued penis and bifid scrotum in 2 boys and vulvar hypotrophy or hypertrophy in 5 girls, leading to sexual ambiguity in 2 patients. In our patients, internal genital malformation with cloaca, bifid uterus, and incomplete migration of the testes was found. A skin tag was seen in 5 (45.5%) of 11 patients, resembling a scrotal fragment in 3 patients. Neurologic abnormalities (some multiple) were present in 5 (45.5%) of 11 patients and were limited to spinal dysraphism, including lipomyelomeningocele (3 patients), tethered cord (3 patients), and spina bifida (1 patient). All patients were neurologically asymptomatic at birth, with 2 infants subsequently developing neurologic dysfunction. Computed tomographic scan, ultrasound examination, and spine magnetic resonance imaging were used to diagnose spinal dysraphism.
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Table 1. Clinical Description and Treatment of Patients With PELVIS Syndrome
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Table 2. Summary of Findings Among 11 Patients With PELVIS Syndrome
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All of the perineal hemangiomas reported, including our cases, had several common features: (1) The initial clinical presentation was a telangiectatic plaque in 7 of 11 patients and was present at birth. (2) The hemangiomas were segmental, large, and unilateral or bilateral and were localized over areas that did not correspond to specific cutaneous dermatomes. Most hemangiomas were extensive, sometimes found from the sacral area to the thighs or to the pelvis area, including the vaginal wall, uterine horn, and fallopian tube. In 2 patients, visceral involvement with bladder and rectal localization was noted. (3) Involution of the hemangiomas was long and incomplete; severe ulcerations were a feature of 4 of them, leading to corticosteroid therapy in 3 patients (without significant improvement in 2, who required the addition of systemic interferon alfa). Clinical characteristics 1 and 2 were in accord with a retrospective review of 327 patients with hemangioma of infancy, showing that segmental hemangiomas had a higher rate of complications, more associated anomalies, and poorer outcomes.8
The association of anorectal, spine, renal or urinary tract, and genital defects is not coincidental. A recent epidemiological analysis of a large series of malformed infants found that this combination of congenital abnormalities constituted a group of defects that tended to be present together in the same child.11 These malformations were grouped under the term urorectal septum malformation sequence, partial or complete.12-13 Although the underlying cause of urorectal septum malformation sequence is unknown, these abnormalities are thought to arise early during the fourth to sixth weeks of development from insufficient breakdown of the cloacal membrane and a lack of mesodermal cells in the caudal region of the embryo. The similarities between urorectal septum malformation sequence and the constellation of abnormalities noted herein (our observations and the cases from the literature review) are striking. However, the previously reported11, 13 absence of associated hemangioma with urorectal septum malformation sequence may be the result of a bias of recruitment of patients with hemangioma in the dermatology and plastic surgery departments. We believe that our observations of perineal hemangiomas that are associated with different congenital malformations could represent a variant of this spectrum of disorders.
We propose the acronym PELVIS syndrome to emphasize the major features of this polymalformation syndrome: perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag. Large perineal hemangiomas should be recognized as indicators of underlying pathologic conditions. Although not all the components of the acronym are necessary to fit the malformation sequence, we believe that patients with large perineal hemangiomas should have spine imaging performed to detect spinal dysraphism, as proposed for superficial capillary malformation or other cutaneous changes of the midline, including dimple, hyperpigmentation, hypertrichosis, lipoma, or scar.14 In addition, systematic pelviperineal imaging should be performed to detect occult urogenital abnormalities or the presence of potential visceral hemangiomatosis even without obvious external malformations.
AUTHOR INFORMATION
Correspondence: Céline Girard, MD, Department of Dermatology, Hôpital Saint-Eloi, Centre Hospitalier Régional Universitaire, 80 avenue Augustin-Fliche, 34295 Montpellier CEDEX 5, France (celine-girard{at}chu-montpellier.fr).
Accepted for Publication: January 24, 2006.
Financial Disclosure: None reported.
Acknowledgment: This work is dedicated to Pedro Montoya, MD.
Author Affiliations: Department of Dermatology, Hôpital Saint-Eloi (Drs Girard, Guillot, and Bessis), and Department of Plastic Pediatric Surgery, Hôpital Arnaud de Villeneuve (Dr Bigorre), Centre Hospitalier Régional Universitaire, Montpellier, France.
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14. Tavafoghi V, Ghandchi A, Hambrick GW Jr, Udverhelyi GB. Cutaneous signs of spinal dysraphism: report of a patient with a tail-like lipoma and review of 200 cases in the literature. Arch Dermatol. 1978;114:573-577.
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