The Altman classification describes SCTs according to their anatomic location, dividing them into four types ( Fig. 65.5 ). Most SCTs are seen as a visible mass at birth (Altman type I-III), making the diagnosis obvious ( Fig. 65.6 ). Prenatal diagnosis has important implications and will be discussed further.

Altman classification of sacrococcygeal teratomas. Type I tumors (46% of the cohort in the original series) are predominantly external; Type II tumors (34%) present externally but also have significant intrapelvic extension; Type III tumors (9%) are apparent externally but the predominant mass is pelvic and extends into the abdomen; Type IV tumors (10%) are entirely internal (presacral) with no external presentation.

Adapted from Altman RP, Randolph JG, Lilly JR. Sacrococcygeal teratoma: American Academy of Pediatrics Surgical Section Survey—1973. J Pediatr Surg . 1974;9:389–398.

This infant was diagnosed with a large sacrococcygeal teratoma in utero. Within days, premature labor occurred, prompting cesarean delivery at 25 weeks of gestation. The baby died despite resuscitation attempts.

The main differential diagnosis is meningocele. Typically, meningoceles occur cephalad to the sacrum and are covered by dura or skin. Examination of the child reveals bulging of the fontanelle with gentle pressure on a sacral meningocele, helping to establish the diagnosis before plain radiography, US, and magnetic resonance imaging (MRI) confirm it. The coexistence of meningocele with teratoma is well recognized in the familial form, but the teratoma is usually presacral. Rarely, a typical exophytic teratoma may have an intradural extension. ^, Other rare lesions in the differential diagnosis include lymphangiomas, lipomas, tail-like remnants ( Fig. 65.7 ), rectal duplications, and others.

This patient had a scrotum-like perianal mass with anal stenosis at birth. An anoplasty was done with removal of the mass, which was not attached to the coccyx. Pathologic examination showed only fibroadipose tissue with smooth muscle, vascular structures, and cartilage, consistent with a hamartomatous process or caudal vestige (also called a tail remnant).

Although many neonates with SCTs do not have symptoms at birth, some require intensive care because of prematurity, high-output cardiac failure, disseminated intravascular coagulation, and tumor rupture or bleeding. Tumor lysis syndrome and lethal hyperkalemia from tumor necrosis have been described. Lesions with a large intrapelvic component can cause urinary obstruction. ^, The physical examination should always include a rectal examination to evaluate an intrapelvic component. The ability to feel an intact sacrum above the level of the mass is an indication that complete resection in the prone position will be achievable. Plain anteroposterior and lateral radiographs of the pelvis and spine can characterize calcifications in the tumor and spinal defects. US of the abdomen and pelvis and a CT or MRI define the degree of abdominopelvic involvement and vascular supply.

The diagnosis of a purely intrapelvic teratoma (Altman type IV) is often delayed. Children develop constipation, urinary retention, an abdominal mass, or symptoms of malignancy, such as failure to thrive. Age is a predictor of malignancy in patients with testicular, mediastinal, and sacrococcygeal teratomas. The risk of malignancy is less than 10% at birth, but rises to 40%–75% after 1 year of age for SCTs, with the exception of the Currarino triad and familial presacral teratomas. The risk of malignant recurrence is also high for incompletely excised lesions. Complete excision of the tumor should be carried out as soon as the neonate is stable enough to undergo the operation. Serum markers, most notably AFP, should be determined before the operation for later comparison.

Prenatal Diagnosis

In recent decades, the diagnosis of SCT has often been made on prenatal US, especially when this examination is routinely performed in the second trimester. The site of the lesion, its complex appearance, and intrapelvic extension with or without urinary tract obstruction are easily recognized. Although most small teratomas do not adversely affect the fetus, the presence of a large solid vascular tumor is associated with a significant mortality rate, both in utero and perinatally. ^{, , ,} Perinatal mortality is usually related to prematurity or tumor rupture with exsanguination (or both). Premature delivery may occur spontaneously from polyhydramnios or may be induced urgently because of fetal distress or maternal preeclampsia.

Repeated US assessment of tumor size is important because delivery by cesarean section should generally be considered if the tumor is larger than 5 cm or larger than the fetal biparietal diameter. Dystocia during vaginal delivery is associated with tumor rupture and hemorrhage and carries a high mortality rate. The options in managing unexpected cases with dystocia include emergency cesarean section of the partially delivered fetus who has been intubated and ventilated after vaginal presentation of the head.

Polyhydramnios with larger tumors may lead to premature labor, and amnioreduction may be needed to decrease uterine irritability. ^, Tumors that are larger than the fetal biparietal diameter at diagnosis, that grow faster than the fetus, or that grow faster than 150 mL/week are associated with a poor prognosis. ^, As the tumor enlarges, the fetus may develop placentomegaly or hydrops, caused by high-output cardiac failure from vascular shunting within the tumor, with fetal anemia from intratumoral bleeding also playing a role. Placentomegaly and hydrops are harbingers of impending fetal death and should lead to urgent cesarean delivery. Open fetal surgical excision/debulking is one option in fetuses considered too premature to deliver. It has been performed with success in three of eight cases in one center and in three of four cases in another. ^, However, in the presence of the maternal mirror syndrome, emergency cesarean delivery is indicated to prevent life-threatening maternal complications. ^, Interestingly, there were no cases of fetal resection in the latter center in a subsequent cohort of 23 fetuses with SCTs, emphasizing that the indications for such a procedure are limited once selection criteria have been refined.

As a result of the maternal and fetal risks with fetal surgery, less-invasive therapeutic options have been sought. Successful intrauterine endoscopic laser ablation of the large feeding arteries has been described, but others noted poor outcomes, often related to severe fetal anemia and cardiac failure. ^{, ,} Alcohol injection has also been tried. Attempts at interrupting the high vascular flow using radiofrequency ablation (RFA) have met with mixed results. ^, As the technology has improved, there has been a renewed interest in this technique. A case series and systematic review found a total of 20 fetuses treated for SCT with hydrops with various minimally invasive therapies, with a survival rate less than 50% (intervention with open fetal surgery resulted in 55% survival). The ex utero intrapartum treatment (EXIT) procedure has been used as an adjunct to allow safer resection in the setting of large masses and prematurity. ^, It remains unclear when early delivery is preferable to intervention in utero or use of the EXIT procedure in fetuses with early hydrops and placentomegaly. Survival after emergency delivery as early as 26 weeks of gestation has been reported. More contemporary evidence suggests that early delivery with immediate resection in selected fetuses after 27 weeks of gestation can be associated with good outcomes. ^,

Purely cystic teratomas occur in 10%–15% of cases. Prenatal diagnosis allows percutaneous aspiration to facilitate delivery if needed to ( Fig. 65.8 ) decrease uterine irritability or prevent tumor rupture at delivery. ^{, , , ,} Fetal MRI is a useful adjunct to the prenatal evaluation, providing additional information that helps in counseling and preoperative planning.

(A) Ultrasound image of a female fetus at 38 weeks of gestation, showing a large cystic mass (C) attached to the coccyx, with tiny cysts anterior to the sacrum ( arrow ). An ultrasound evaluation at 18 weeks was normal. The cyst was gradually enlarging from an initial diameter of 9.5 cm at 31 weeks of gestation. The cyst was aspirated for 650 mL of fluid, permitting external rotation from breech to the vertex position. Two days later, when labor was induced, another 200 mL of fluid was removed to permit an uncomplicated vaginal delivery. (B) Twenty-four hours postnatally, the lesion remained floppy with an area of skin ulceration, likely a consequence of excessive in utero distention. A mature cystic teratoma was confirmed histologically.

Operative Approach

Adequate intravenous access, preferably in the upper extremities, and the availability of blood products should be obtained before starting the operation, especially with large tumors.

For most tumors, the major component is extrapelvic and the patient is placed in the prone position. If there is a significant intrapelvic or intraabdominal component, or if the tumor is highly vascular and bleeding within the tumor is suspected, it may be wise to begin with a laparotomy or laparoscopy. Generally, most resections can be achieved completely in the prone position, especially if the internal portion is cystic ( Figs. 65.9 and 65.10 ). When in doubt, a safe approach is to prepare the skin from the lower chest to the toes, allowing the infant to be turned to the supine position without having to redrape. Vaseline packing in the rectum facilitates its identification throughout the procedure. En bloc excision, including the coccyx, is preferable. Failure to remove the coccyx is associated with a high recurrence rate. ^{, ,} An acceptable gluteal crease and perineum is formed by the appropriate reconstruction of the perianal musculature. The use of plastic surgical principles to close the skin improves the cosmetic appearance of the scar (see Fig. 65.9 , inset).

(A) The teratomatous attachment may compress the rectum, vagina, and bladder anteriorly. (B) The patient is placed on the operating table in a prone jackknife position, with general endotracheal anesthesia. An appropriate intravenous cannula should be placed in an arm vein. (C) The incision is an inverted V-shape to allow excision of the tumor and facilitate a satisfactory cosmetic closure. The amount of skin excised depends on the size and shape of the tumor. (D) The tumor is dissected from the gluteus maximus muscle. (E) The coccyx is transected and removed in continuity with the tumor. (F) The middle sacral artery is the major blood supply to the tumor and is ligated ( arrow ) after transection of the coccyx.(G) Excess skin is excised to facilitate closure. However, often it is desirable to save all viable skin flaps until the resection is complete and a decision can be made as to the best closure method (transverse, vertical, or a combination). Rather than leaving “dog ears,” excess skin can be deepidermized and buried to improve buttock contour. (H) Because the tumor is adherent to the rectum, sharp dissection can be directed by placing a finger or a Hegar dilator in the rectum (the latter can be inserted during draping and covered with a sterile clear plastic drape, allowing manipulation during dissection). (I) Placement of sutures between the anal sphincter and the presacral fascia ( a ). When the sutures are tied, the anal sphincter is pulled upward to the sacrum to form a gluteal crease ( b ). (J) A drain is left in the surgical site for drainage of postoperative serosanguineous fluid. Inset, Alternate technique for closure after excision of large teratomas. Using plastic surgery principles, this avoids “dog ears” and places the scars along natural skin lines for an improved long-term cosmetic result. (K) If the tumor extends through the bony pelvis into the retroperitoneum, a urinary bladder catheter is inserted to facilitate suprapubic dissection. (L) Lower abdominal transverse incision allows interruption of the middle sacral artery and dissection of the tumor from the sacrum and pelvis, which is eventually removed from the perineum.

Inset redrawn from Fishman SJ, Jennings RW, Johnson SM, et al.: Contouring buttock reconstruction after sacrococcygeal teratoma resection. J Pediatr Surg . 2004;39:439–441.

(A) This neonate was born with an exophytic sacrococcygeal teratoma and had a large palpable abdominal mass. (B) The T2 sagittal view of the preoperative MRI showed a heterogeneous solid and cystic mass with cystic extension ( asterisk ) into the retroperitoneum. Complete resection was achieved in the prone position. (C) The resected specimen is seen with the long decompressed cyst wall ( arrow ) that extended into the retroperitoneum.

Courtesy Dr. Sherif Emil.

Although the chevron incision has been the classic approach, other incisions can also be employed. A vertical/midline incision is an option and is preferred for smaller teratomas as it leaves a nearly normal-looking median raphe ( Fig. 65.11 ). Resection of the excess skin at the closure gives an optimal cosmetic result.

This young child presented with this mass, which was a sacrococcygeal teratoma (A). The child underwent excision of the mass through a midline gluteal cleft incision (B). A nice cosmetic result can be seen at the time of final closure of the incision (C).

Several techniques have been described to help in the management of giant SCTs. These include intraoperative control of the aorta, laparoscopic division of the median sacral artery, ^, the use of extracorporeal membrane oxygenation and hypothermic perfusion, devascularization and staged resection, ^, and preoperative embolization with or without RFA. ^, Autologous cord blood transfusion is another useful adjunct.

For patients with Currarino syndrome, the presacral mass can usually be resected through a posterior sagittal approach. The teratoma is often densely adherent to the rectal wall in such patients, and the surgeon should not be overly aggressive in the absence of malignancy. When an anterior meningocele or other anomaly of the terminal spinal cord is associated, a combined approach with a pediatric neurosurgeon is ideal. Repair of the anal anomaly can simultaneously be performed with resection of the presacral mass by extension of the posterior sagittal incision. However, repair of the anal anomaly will often have been completed before recognition of the presacral mass.

Mediastinal teratomas are diagnosed from the fetal period to adolescence and even adulthood. ^, Most are located in the anterior mediastinum, but a few have been described in the posterior mediastinum, some with epidural extension. ^, Although infants commonly present with respiratory distress, lesions in the fetus can present with hydrops and evidence of airway compromise on prenatal imaging. In older children, teratomas are often an incidental finding on a chest radiograph ( Fig. 65.12 ). Any patient with a mediastinal mass that presents with orthopnea or a reduction in the tracheal cross-sectional diameter of greater than 50% on axial imaging is at a significant risk for airway collapse during general anesthesia. Management of these lesions is discussed in Chapter 23 . As mentioned, a strong association is found with Klinefelter syndrome. In these cases, choriocarcinoma within the teratoma often leads to precocious puberty (see “Associated Anomalies” section). ^, Mediastinal germ cell tumors have been observed concurrently or after treatment for hematologic malignancies such as Langerhans cell histiocytosis and hemophagocytic syndrome. ^{, ,} Histologically, the presence of immature tissue does not affect the prognosis in children younger than 15 years. After age 15 years, mediastinal teratomas have a higher incidence of malignant behavior, which is usually indicated by elevated levels of AFP or β-hCG (or both). For those with malignancy, YST is most prevalent in girls and young boys, whereas mixed histology prevails in over 50% of older adolescent males.

(A) A 13-year-old African boy with an asymptomatic anterior mediastinal mass that was discovered on routine immigration chest radiograph. (B) The CT scan shows a heterogeneous mass adjacent to the aorta, suggestive of a neoplasm (thymoma or lymphoma). During consideration of a fine-needle aspiration biopsy, ultrasonography was done and suggested the presence of cysts with debris (not shown). MRI (not shown) confirmed the presence of the cystic components and fat. A mature teratoma was excised through a small left anterior mediastinotomy, removing the left second costal cartilage.

Large tumors should be excised through either a median sternotomy or a thoracotomy. ^, Smaller tumors may be approached through an anterior mediastinotomy (see Fig. 65.12 ) or by thoracoscopy, although tumor seeding is a concern with the latter. Complete resection is the goal, but often these masses are too large at presentation and thus require initial biopsy followed by chemotherapy. ^{, ,} In a retrospective series of resection by either thoracotomy or thoracoscopy, a tumor size of 7 cm was suggested as a possible cutoff when choosing between these techniques. During chemotherapy, clinicians should be aware of the “growing teratoma syndrome” that occurs when the benign elements within a germ cell tumor continue to grow. A Pediatric Oncology and Children’s Cancer (POG/CCG) intergroup study involving 38 patients demonstrated that primary resection could be achieved in only 14 patients. In another 18, chemotherapy reduced tumor size in 57%, while the remainder were stable or increased in size. All patients with residual disease underwent successful postchemotherapy resection. The overall survival for malignant mediastinal germ cell tumors in this study was 71%, which is less than for other extragonadal sites. In a more recent study, the Italian Association of Pediatric Hematology and Oncology reported an overall survival of more than 80% in 20 consecutive pediatric patients. These results support previous studies demonstrating better prognosis with younger patients (typically young children with YST) compared with older adolescents (often with mixed germ cell histology). ^, Importantly, this variance in outcome is thought to be the result of differences in the cytogenetic and molecular profiles of these tumors based on patient age and the germ cell development stage in which these tumors occur. In a series from Memorial Sloan-Kettering Cancer Center, normalization or reduction in preoperative tumor markers was the strongest predictor of increased survival. In a 50-year retrospective study from St. Jude Children’s Research Hospital, survival was statistically higher in patients who received platinum-based chemotherapy, as well as patients with nonmetastatic disease at diagnosis and those patients who had negative resection margins. In a subset analysis of patients treated after the routine use of platinum-based chemotherapy (1985), the authors noted that presentation with localized disease only was associated with higher survival. The overall survival for malignant tumors treated after 1985 (using various combinations of chemotherapy, radiation, and surgical resection) was 56%.

Although rare, the management of prenatally diagnosed mediastinal teratomas deserves special mention. Prenatal ultrasound is generally able to detect these lesions. Most have both solid and cystic components, and more than a third will have calcifications. ^, One clinical report suggested that the management of these lesions should be based on gestational age (GA) and the presence of either hydrops and/or airway compromise. Those less than 30 weeks’ estimated gestational age were managed by in utero resection, while the older group with hydrops and airway compromise were delivered by EXIT. If ventilation was not possible after intubation, resection was completed on placental support. Those who could be placed on a ventilator were then treated with postnatal resection.

Retroperitoneal teratomas occur outside the pelvis, often in a suprarenal location. They represent about 4% of all childhood teratomas, and 75% occur in children younger than 5 years of age. ^, They occur twice as frequently in females and also have an association with Klinefelter syndrome. Although more than 90% are benign, up to one-quarter may be malignant when diagnosed in the first month of life. Usually the tumor is discovered as an abdominal mass that compresses the gastrointestinal tract, causing symptoms such as vomiting, difficulty feeding, and constipation. Presentation with an acute abdomen from infection has also been described. Abdominal radiographs may show calcifications or bony structures within the tumor ( Fig. 65.13 ). US, CT scan, or MRI and the assessment of serum markers are the essential aspects of preoperative evaluation.

This 7-month-old girl was found to have an abdominal mass on physical examination. (A) Plain radiograph films showed a large calcified left upper quadrant mass, which can be seen to displace the kidney inferiorly after injection of intravenous contrast. Ultrasonography (not shown) revealed multiple cystic areas. (B) This was confirmed by CT, which also revealed areas of fat density, making a teratoma much more likely than a neuroblastoma. The mature teratoma contained all types of cerebral and cerebellar tissues; respiratory, transitional, and squamous epithelium; sebaceous and salivary glands; smooth muscle; cartilage; and fat. Serum markers were normal.

Operative excision can be challenging as vascular encasement or displacement and adhesion to surrounding structures are possible. In a series of 15 patients, complete resection was achieved in all but two patients; however, most had significant blood loss and needed adjacent organ resection. In another series of 58 patients who underwent resection, 17% required intraoperative blood transfusion, 14% had a vascular injury, 11% had intraoperative tumor rupture, and 5% required adjacent organ resection. Malignant lesions manifest as bulky masses that are not easily resectable. In a POG/CCG intergroup study involving 25 patients, only 5 could be resected primarily. The remainder underwent initial biopsy and platinum-based chemotherapy; four did not require further surgery. The remaining patients in this series underwent total or partial resection with a 6-year event-free survival of over 80% and an overall survival close to 90%. The retroperitoneum is also the most common site for the fetus-in-fetu malformations and intermediate fetiform teratomas. ^{, , ,}

Cervical teratomas represent up to 8% of all teratomas. ^, These tumors are initially seen as a partially or completely cystic neck mass. Large teratomas often lead to severe polyhydramnios, presumably because of esophageal compression, which can lead to premature labor. Serial amnioreduction may be required to prevent this complication ( Fig. 65.15 ). Tracheal deviation and/or obstruction may be identified on prenatal imaging studies such as fetal MRI, thus necessitating a strategy to secure the airway immediately after birth. Death may result from the inability to intubate a severely compressed or deviated trachea. ^, Predictors of airway obstruction based on prenatal US have been identified, including the presence of polyhydramnios, a presumptive diagnosis of teratoma, and a tracheoesophageal displacement index greater than 12. The tracheoesophageal index is based on measurements from fetal MRI and is the sum of the lateral and ventral displacement in millimeters of the tracheoesophageal complex from its usual anatomic position. Prenatal diagnosis allows for multidisciplinary planning, which can include cesarean section and the establishment of an airway by the surgical team before the cord is clamped. Refinements of the EXIT procedure were well documented in a series of 87 infants from Children’s Hospital of Philadelphia, of whom 17 had giant cervical teratomas. Extension of the tumor to the mediastinum or displacement of the trachea and carina may cause pulmonary hypoplasia, which increases respiratory morbidity and mortality. Fetal MRI has utility in estimating the severity of pulmonary hypoplasia by measuring total fetal lung volumes. The tumor is usually well defined and may contain calcifications. The differential diagnosis includes cervical lymphangioma, congenital goiter, foregut duplication cyst, branchial cleft cyst, or, rarely, cystic neuroblastoma. Postnatal investigations should include plain radiographs, US, and a measurement of AFP and β-hCG, as well as urinary catecholamine metabolites. CT and MRI may be useful adjuncts to establish the diagnosis and define anatomic relationships.

(A) A fetus has a giant cervical teratoma that is seen on magnetic resonance imaging at 30 weeks of gestation. The lesion was first diagnosed on routine ultrasonography at 18 weeks and grew much faster than the fetus. Several amnioreductions were required because of polyhydramnios, and an EXIT procedure was performed at 34 weeks of gestation ( H, head; F, foot; arrows outline the tumor). (B) After securing the airway during the EXIT procedure and stabilizing the neonate, resection was completed successfully. During resection, it was found that the left carotid artery and jugular vein entered the tumor. The left vagus nerve (hence the left recurrent nerve) was never seen, and the left glossopharyngeal nerve also was sacrificed. The tumor originated from the left pharyngeal wall. Including the fluid within the cystic parts, the teratoma weighed 1.4 kg and the neonate weighed 1.6 kg postoperatively.

On prenatal ultrasound, this baby was found to have a large epignathus and was born via an EXIT approach. (A) A tracheostomy was performed during the EXIT procedure. (B) The epignathus has been excised and the baby is in a mandibular molding device to help reshape the mandible, which was splayed out due to the large intraoral mass.

Complete excision is accomplished through a wide collar incision. The tumor is usually not difficult to separate from the strap muscles and the fascial planes, but the pretracheal fascia is sometimes very adherent. Often, the site of origin cannot be identified, yet in many instances, the tumor is firmly attached to and appears to originate from the thyroid gland. A thyroid lobectomy should be performed in these cases. In other instances, the tumor is adherent to the pharynx. In these cases, meticulous dissection and pharyngotomy, if necessary, are important to prevent tumor recurrence. Giant teratomas may distort the anatomy, leading to permanent sequelae. One group of authors described a three-step approach to resection of a highly vascular cervical teratoma, which included EXIT and tracheostomy, endovascular embolization of the feeding carotid artery, followed by complete resection. Generally, the tumor is composed of both mature and immature neuroglial tissue, but cartilage and bronchial epithelium are not uncommon. ^, In one-third of cases, the tumor contains thyroid tissue, and hypothyroidism is a well-known postoperative complication. Cervical teratomas are usually benign, but malignancy has been reported, even in infants. A CCG report showed that 20% of tumors clearly contained malignant elements; most often neuroblastoma, but also teratocarcinoma, neuroblastoma-like tumor, and neuroectodermal tumor. Complete excision in the newborn period results in a survival rate of 80%–90%. A prognostic classification for cervical teratomas takes into account birth status, age at diagnosis, and presence of respiratory distress. In neonates without respiratory distress, the mortality rate was 2.7%, compared with 43.4% in those with respiratory compromise. Prenatal diagnosis and delivery using the EXIT procedure can increase survival. ^, Another strategy is fetal tracheoscopic intubation to facilitate a standard cesarean section.

Thyroid teratomas may be present in older children and adults and are often malignant in the latter. ^, Spindle epithelial tumor with thymus-like elements (SETTLE) is a malignant thyroid neoplasm that can sometimes be confused with thyroid teratomas due to its spindle cell and epithelial components. These unique neoplasms have a propensity for delayed metastasis, particularly to the lungs, kidney, mediastinum, lymph nodes, liver, and vertebrae. Adjuvant chemotherapy and radiotherapy do not seem to have a significant impact on overall outcome for metastatic disease, and in these cases survival is poor.

Pyogenic granulomas (also known as lobular capillary hemangiomas) are solitary polypoid capillary lesions often associated with trauma or local irritation ( Fig. 65.19 ). They are commonly found on the skin as red, raised, occasionally bleeding lesions or in the mouth in association with pregnancy. They are usually treated with topical silver nitrate or liquid nitrogen. Other topical agents such as corticosteroids or beta-blockers may also be used. Topical management should be considered first line for most patients, especially for younger patients, poor surgical candidates, those with small lesions, or those with lesions in cosmetically sensitive locations. ^, Excision or electrocautery may be required when large or resistant to topical treatment.

This 8-year-old presented with this large pyogenic granuloma on his back (A and B). Due to its size, the lesion was very friable and bled with very minor trauma. It was excised as an outpatient procedure.

Warts are uncommon before the age of 4 years but are a common pediatric complaint. Various subtypes of human papillomavirus affect different body areas. Verrucae spread through families, sports teams, and schoolmates, and are most common on the hands and feet. Topical treatment includes salicylic or trichloroacetic acid, liquid nitrogen, or fine-tip electrocautery. A Cochrane review on topical treatment suggested cryotherapy may be only equivalent to older remedies. Intralesional immunotherapy treatments may also be utilized. Excision is occasionally required.

Condylomata acuminata occur in the perineal skin and suggest, but are not conclusive evidence of, child sexual abuse. The virus also may be transmitted by hand contact during diaper changes in infants or acquired at birth during vaginal delivery, but the lesions may take months to develop. One study suggested that sexual abuse is an unlikely source of transmission in children younger than 3 years if no other signs of abuse are found. These lesions have a core of connective tissue covered in epithelium, occurring as solitary or cauliflower-like lesions. Spontaneous regression is possible and is more common in immunocompetent patients, but topical podophyllin may be required. Some cases may necessitate electrocautery under general anesthesia when a thorough rectoscopic and vaginoscopic assessment can be performed.

The calcifying epithelioma of Malherbe or pilomatrixoma is a solitary benign calcifying tumor of hair follicles. This is one of the most common acquired soft tissue lesions in children. Clinically, a circumscribed, firm, mobile, intracutaneous, or subcutaneous nodule is palpable, with occasional yellowish or bluish coloration ( Fig. 65.20 ). These lesions are most common before the age of 20 years, and 60%–70% are found in the head and neck region. ^, Most are smaller than 1 cm, although lesions up to 4 cm have been reported. Less than 10% are multiple, and in such cases, there may be a familial predisposition and an association with Gardner syndrome. ^, They are more common than sebaceous cysts in younger patients. Local excision is curative. This sometimes can be done under local anesthesia and may require excision of a small ellipse of skin when the lesion is adherent to the dermis. They do not have a true capsule, and intraoperative rupture does not increase the recurrence rate, in contrast with dermoid or epidermoid cysts.

This operative photograph shows a pilomatrixoma (calcifying epithelioma of Malherbe). These lesions are circumscribed, firm, and have a distinctive “knobby” appearance. Once removed, they are seen to have a yellowish content. Most of these lesions are found in the head and neck region.

Malignant epithelial tumors are rare in children. General treatment principles include wide local excision and radiation therapy for certain high-risk tumors. Basal cell carcinoma is the most common nonmelanoma skin cancer in children. The basal cell nevus syndrome, also known as Gorlin syndrome, is an autosomal dominant disease with basal cell lesions of the eyes, nose, and cheeks in association with anomalies of the mouth, skin, skeleton, central nervous system, eyes, and genitals. Epidermoid cancers in pediatric transplant recipients have also been reported. Squamous cell carcinomas (SCCs) in pediatric patients are also associated with iatrogenic exposures such as immunosuppression or chemotherapeutic agents. It is recommended that survivors of pediatric cancers be screened for secondary skin malignancies annually. Xeroderma pigmentosum, epidermolysis bullosa, epidermodysplasia verruciformis, and other genetic syndromes are all associated with the development of SCC. ^, Melanoma, the most common type of skin cancer in pediatric patients, is covered in Chapter 67 .

A neurofibroma is a benign neoplasm of Schwann cells, usually of peripheral nerves with several clinical forms ( Table 65.3 ). Multiple neurofibromas with café-au-lait skin lesions suggest neurofibromatosis type 1 (NF-1) or von Recklinghausen disease. This autosomal dominant disorder arises from mutations or deletions of chromosome 17, specifically associated with the NF-Type 1 locus first identified in 1990. NF-1 diagnostic criteria require several clinical and genetic findings and were recently updated ( Box 65.1 ). Diagnosis may be delayed because of the late development of clinical signs, but affected probands can be diagnosed early by genetic testing both prenatally and postnatally. ^, Mucosal neurofibromas are associated with MEN 2B. The rarer NF-2 genetic anomaly occurs on chromosome 22 and is associated with bilateral acoustic neuromas. NF-1 and NF-2 are compared in Table 65.4 . About half of the cases of NF-1 represent de novo mutations.

Table 65.4

Comparison of Neurofibromatosis Types 1 and 2

Modified from Curatolo P, Riva D. Neurocutaneous Syndromes in Children . John Libbey Eurotext; 2006:170.

	Neurofibromatosis Type 1 (NF-1)	Neurofibromatosis Type 2 (NF-2)
Synonyms	Peripheral NF	Central NF
	von Recklinghausen neurofibromatosis	Bilateral acoustic neuroma
Frequency	1:3500	1:25,000
Inheritance	Autosomal dominant	Autosomal dominant
Penetrance	High	High
% Sporadic	30–50	50
% Mosaic	>4	17–28
Gene	NF-1	NF-2
Chromosome	17q11.2	22q12.2
Associated tumors	Neurofibroma Optic and brain gliomas Malignant peripheral nerve sheath tumors	Bilateral vestibular schwannomas Meningiomas schwannomas

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