Anorectal hamartoma: Pedunculated perianal mass in a neonate

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A term healthy male neonate, born to a second gravida mother without a history of consanguinity, presented with a pedunculated perianal mass since birth. The neonate had an uneventful postnatal history. There was no discharge or bleeding from the mass, nor were there any signs of infection. In addition, there were no bowel or bladder disturbances.

On local examination, both testes were palpable and descended, with normal male external genitalia. A rounded, non-tender, firm pedunculated mass measuring 1 × 1 cm was noted hanging connected through a pedicle of 1.5 cm attached to the perineal raphe just anterior to the anal opening. The mass had an ulcerated overlying skin [Figure 1]. The anus was normal, with no fissures or prolapse. The mass fell off spontaneously after 1 week, leaving behind an appendage measuring 0.5 cm. Based on the clinical presentation, a provisional diagnosis of hamartoma was diagnosed. As part of the follow-up, magnetic resonance imaging of the spine was done to rule out neural tube defects.

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Figure 1:

Pedunculated perianal mass measuring 1× 1 cm.

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The differential diagnosis for pedunculated perianal masses in neonates includes conditions such as hamartomas, acrochordons and melanocytic nevi. Pedunculated perianal masses are generally benign. Congenital perianal masses are exceedingly rare and sparsely documented in medical literature. When congenital, these masses are often associated with other anomalies or syndromes.^[1]

Common congenital masses such as sacrococcygeal teratomas, giant congenital melanocytic nevi, Langerhans cell histiocytosis, rectal duplication cysts and rhabdomyosarcomas rarely present as isolated lesions.^[2,3] Sacrococcygeal teratomas originate from the coccyx and not from the anal canal or anal verge. Rectal duplication cysts are connected to the gastrointestinal tract and typically present with complications such as infection, fistula formation or bowel obstruction during childhood.

In contrast, the mass in this case was asymptomatic, showed no communication with the gastrointestinal tract and did not involve the coccyx or urinary system.

This case highlights the importance of careful evaluation and follow-up of congenital perianal masses to determine their nature and rule out associated anomalies. This report adds valuable insights to the limited existing literature on congenital perianal masses in neonates.