Infantile Perianal Pyramidal Protrusion with Coexisting Perineal and Perianal Hemangiomas: A Fortuitous Association or Incomplete PELVIS Syndrome?

Two cases of infantile perianal pyramidal protrusions (IPPP), one pyramidal in shape and one leaf shaped, are being described by us. Both were notable for coexisting hemangiomas in the close vicinity. To the best of our knowledge we are reporting these two variants of IPPP with the associated neighboring hemangiomas for the first time in Indian dermatologic literature. We suggest that this presentation may be a part of one of the syndromes that comprise anorectal malformations with hemangiomas like PELVIS syndrome and others mentioned in the table.

What was known?

Infantile Perianal Pyramidal Protrusions (IPPP) as the name suggests either pyramidal, leaf like, or cigar-shaped protrusions which are rare congenital anomalies and most often present at birth or soon after.

Because of their rarity and inadequate reporting in our literature they are often mistaken for sentinel hemorrhoid, skin tag, or even sexual abuse leading to condyloma.

Introduction

One of us (SV) has documented two infants with a congenital protrusion located perianally. One was pyramidal and the other was leaf shaped. Both cases have associated hemangiomas in the same location. The first case also had a large segmental facial hemangioma reminiscent of Sturge-Weber syndrome as well as multiple small hemangiomas on the extremities. The second one was seen by both of us in my clinic in India (SV and UW) whereupon both cases were discussed thoroughly and a diagnosis of two different-shaped infantile perianal pyramidal protrusion (IPPP) has been made. We suggest that the association of hemangiomas in the same location are not coincidental but may be a part of one of the syndromes described in the table below.

Case Reports

Case 1

A 3-month-old female child was seen by one of us (SV) in a multi-specialty hospital upon the request of the pediatrician. She was born after a normal full-term vaginal delivery and had no history of consanguinity in her parents. The child was thought to have hemorrhoids with a large hemangioma in the perineal area present since birth. Upon examination the child had a skin-colored perianal protrusion that was clearly located posterior to the anus [Figure 1]. There was in addition a large midline hemangioma that started from the gluteal cleft all the way to the medial root of the thigh skirting around the vulva [Figure 1]. The presence of inflammation around the pyramidal protrusion could not be assessed because of the presence of the large hemangioma. The parents said the child was born with a ‘red patch’ in the area of the hemangioma which evolved over the past 3 months into a hemangiomatous red plaque. The child also had a large hemangioma on the contralateral side of the face with involvement of the lower lip [Figure 2]. There were no neurological complaints. There were also small hemangiomas found on the ventral aspect of the left forearm and dorsum of the left foot. The hemangiomas were explained in detail to the parents and they decided not to give any oral corticosteroid for the perineal hemangiomas and rather wait for a year. A head and neck as well as spine X-ray was performed that did not show any abnormality. CT scan/MRI was refused by patient's parents due to cost factor. A referral was made to the pediatric surgeon for biopsy of the pyramidal lesion which they refused. A provisional diagnosis of large perineal hemangioma with a perianal skin tag was made. The large facial segmental hemangioma was thought to be Sturge-Weber syndrome with no clinical evidence of internal involvement. The patient was prescribed topical clobetasol cream under monthly supervision after which the lesion had flattened a little and showed a whitish area with pronounced flattening.

Figure 1

Skin-colored pyramidal perianal protrusion with a large hemangioma

Figure 2

Facial hemangioma in the same patient

Case 2

A 2-month-old female child was brought to the same clinic where she was examined by both authors (i.e., SV and UW). The child had a flattened erythematous leaf-like midline protrusion located anterior to the anus which had grown gradually [Figure 3]. She too was born after a normal full-term vaginal delivery and had no history of consanguinity in her parents. The parents had noticed the lesion only after 2 weeks of her birth. A hemangiomatous plaque to the left of the anus had been noticed by the parents as a pink-colored macule which had gradually deepened in color but had not grown in size. There was no surrounding inflammation. There were no other skin findings or any other structural or functional abnormalities detected. The parents refused a pediatric surgical reference for any further intervention. They called after 2 months saying that the hemangioma was flattening rapidly but the leaf-like protrusion remained unchanged. A diagnosis of IPPP was made for both the cases with the diagnosis of the first case done retrospectively. This opens up the strong possibility of the IPPP being a part of PELVIS syndrome in which a ‘skin tag’ is described with perineal hemangioma and other features.

Figure 3

Leaf-shaped perianal protrusion with associated hemangioma

Discussion

The term ‘Infantile perianal pyramidal protrusion’ (IPPP) was first coined by Kayashima in 1996.[1] McKann et al., before this description called them ‘skin tags/folds’.[2] Knowledge of this entity is important as it can be easily mistaken for a sentinel hemorrhoid, anogenital wart or may give rise to an uncalled for alarm regarding sexual abuse.[3] According to one of the largest studies done of this entity comprising 15 patients, as many as 93% of these patients presented with this protrusion at birth.[4] IPPP is skin colored or red, located perianally along the medial raphe predominantly in girls but is not necessarily always pyramidal in shape.[1234] ‘Peanut’, ‘hen's crest’, ‘leaf like’, and ‘tongue tip’ are other descriptions.[4] It may also rarely present posteriorly and has also been described on both anterior as well as posterior location.[3] Because they are not always pyramidal in shape some workers have suggested the term ‘infantile perineal protrusions’.[345] However, the term perineal is also not accurate when the lesion is located posterior to the anus. Embryologically the lengthening of the urogenital septum during the growth of the fetus forms the perineum.[6] IPPP is considered by some to be a residual part of the tip of the urogenital septum.[456] Structurally IPPP is said to occur due to inherent laxity of the female perineum and that explains the female predilection.[34567] There are three different types of IPPPs described in literature namely, constitutional or congenital, acquired or functional, and the last being associated with lichen sclerosus et atrophicus (LSA). The commonest is the constitutional type of IPPP and is described to be occurring often as a leaf like flat protrusion.[34] It is present congenitally and some of the patients have family members who have a similar affliction including a report of its occurrence in two sisters supporting the theory that IPPP may be due to a constitutional predisposition.[345] The acquired functional type is thought by some to be associated with constipation and straining during defecation.[1234567] In some of these patients treatment of constipation resulted in disappearance of the IPPP as early as 3 weeks. Wiping and cleaning after passing stools, diarrhea, anal fissures, and inflammation in the diaper are also described as etiological factors.[1237] However, 93% of patients showing the lesion at birth in one study go against the theory of constipation being a primary causative factor.[4] The classic pyramidal shape is described most often in this particular variant of the IPPP. The third type of IPPP associated with LSA is described as pyramidal or cigar shaped with porcelain white atrophic appearance.[5] This variant can present with recurrent anogenital erythema or have distinct clinical appearance of LSA. It is proposed that in some patients IPPP may be an early clinical feature of LSA. Treatment with strong topical corticosteroids helps resolve the recurrent anogenital erythema but not the IPPP. The relatively few biopsies performed have shown extension of the surrounding normal skin with some acanthosis, elongation of rete ridges and proliferation of capillaries and lymphatics in the dermis. In only one case in this study there was some acanthosis along with elongation of rete ridges.[234] Upper dermal edema, telangiectasias and mild infiltration of neutrophils and eosinnophils have been described in some. One such patient had significant increase in size of the lesion upon passing hard stools with difficulty and therefore the inflammation documented in some of the patients could be a secondary phenomenon.[4]

The IPPPs in both our patients were in line with all that has been mentioned in literature. One is pyramid shaped and is posterior to the anus which is a rare presentation of IPPP; the other is shaped like a hen's crest or a ‘leaf’. Both have been present since birth. Both of them have not been studied histologically because of the parents’ reluctance but they conform to the description of this entity in literature. We would like to present our views, though retrospectively, regarding the presence of accompanying perianal hemangiomas in both our cases. In case 1, it was extensive with hemangiomas in other areas too. Girard et al., have described PELVIS syndrome, an acronym for perineal hemangioma, external genitalia malformations, lipomyelomeningocoele, vesicorenal abnormalities, imperforate anus, and skin tag.[8] 45.5% of their patients showed the presence of a ‘skin tag’. They have also mentioned urorectal septum malformation sequence which could be partial or complete and is very similar to the constellation of signs described by them. They explain that associated hemangiomas may not have been described in previous studies due to a patient recruitment bias in the dermatology and plastic surgery departments. They propose that the association of hemangiomas could be a variant of the urorectal malformation sequence.[910] We propose that both our patients have an incomplete PELVIS syndrome with perineal hemangiomas and ‘skin tag’ which is IPPP in our cases. Pelviperineal imaging studies were not done due to financial constraints which is very often a limitation in Indian patients.

Two other syndromes also need to be mentioned with PELVIS since they too present with lower body/lumbosacral hemangiomas and anogenital anomalies in addition to other features mentioned in the table [Table 1]. It is also felt by some that the two separately described LUMBAR and PELVIS syndrome may be the same due to the major overlap that is seen in the constellation of signs present.[11]

Table 1

Syndromes with anorectal malformations and coexisting hemangiomas

We believe we are describing IPPP for the first time from India. We suggest that IPPP with perineal and perianal hemangiomas is part of incomplete PELVIS syndrome with IPPP being the ‘skin tag’ described in PELVIS syndrome in these cases.[8] We further suggest that all cases of IPPP should be examined thoroughly and urogenital, renal, and spinal studies should be carried out to rule out the associated abnormalities described in Table 1.[81213] It is unfortunate that the vast majority of Indian population do not have medical insurance and therefore expensive imaging studies are not routinely done which accounts for probably many missed features associated with such congenital abnormalities.

What is new?

There are certain syndromes reported in literature, particularly PELVIS syndrome, comprising multiple congenital visceral and structural anomalies with associated perianal hemangiomas and lesions morphologically identical to IPPP.

We suggest that IPPP with congenital perianal and perineal hemangiomas could be part of incomplete PELVIS syndrome in which the ‘skin tag’ described in the syndrome along with perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus is actually IPPP. It is noteworthy that IPPP was initially described in literature as skin tag by McKann et al.

Patients coming with such presentations should be carefully screened for other congenital anomalies which may be asymptomatic at the time of presentation by appropriate imaging techniques.