Lesions of the Skull and Spine in Children
Gerald A. Grant, MD
Duke Children’s Hospital
- Most scalp and skull lesions in children are benign (4).
- Most malignant neoplasms of the skull are metastatic.
- Mean age at diagnosis is 9.5 yrs.
- Differential diagnosis: 1) congenital, 2) inflammatory, 3) traumatic,
and 4) neoplastic.
- Visible or palpable mass/swelling, painful or
tender to palpation, skull defects, change in size of lesion, increasing
head circumference (5-7).
- May be associated with dermal sinus or hairy patch
Congenital Scalp and Skull Defects
- Aplasia cutis:
- Full thickness skin defect.
- Often associated with skull defect.
- Small ones may involute with desiccation and
not require intervention.
- Atretic encephalocele:
- Midline lesions, usually occipital region.
- Overlying skin thin and discolored.
- 20% may have a skull defect (7).
- Enlarged biparietal foramina:
- Unilateral or bilateral parietal skull defect
for the passage of emissary veins found in 60%-70% of the population (see
- Enlarged parietal foramina are thought to be
inherited as an autosomal dominant condition with an incidence of 1 in
- Characteristic location 1.5 cm lateral to
sagittal suture and 3 cm anterior to lambdoid suture.
- May be associated with chromosomal deletions,
cranium bifidum, and cleft lip or palate.
- Do not spontaneously regress. Requires
cranioplasty with autologous bone grafting or bone substitute if skull
defect is large enough to become a safety concern.
- Sinus pericranii:
- Rare vascular mass of the scalp which is an
anomaly of the venous drainage between the intracranial and extracranial
systems via the diploe of the skull.
- MRI scan reveals heterogeneous enhancement of
the lesion. CT shows a crater-like depression and multiple honeycomb
diploic holes in the skull.
- Lesion may spontaneously involute but
otherwise requires surgical excision.
Benign Lesions of Skull
- Dermoid and epidermoid cysts:
- Dermoids most common in younger children,
- Epidermoids most common in older children,
- Account for 60% of childhood skull tumors.
- Anterior fontanel and frontotemporal regions
- Usually involves a suture line and arises
within diploe and expands inner and outer tables.
- Can be cured with complete resection but can
rarely recur. Natural history of these lesions if managed conservatively
- Most common primary bone tumor of skull, more
common in females.
- Pain often relieved with aspirin or NSAID.
- Benign, slow growing tumors of bone, sclerotic
- Gardner’s syndrome: multiple cranial
osteomas (calvaria, sinuses, and mandible), colonic polyposis, soft
- Progressive pain most common symptom.
Recurrence rare but can occur following complete excision.
- May arise from inner or outer table.
- HOT on nuclear bone scan.
- Treatment: conservative management unless
painful despite aspirin and NSAIDs or cosmetic concern.
- Osteoma differentiated from osteoblastoma by
size (osteoma <1.5 cm and osteoblastoma >1.5 cm). Indeed, contrary
to osteoid osteomas, osteoblastomas often extend to extraskeletal soft
tissues, more frequently recur after surgery, may show aggressive
behavior or sarcomatous changes, and may even metastasize.
- Encephaloceles (see Chapter 6):
- Extensions of intracranial structures outside
of normal skull.
- 0.2/1000 live births and fetal deaths.
- Convexity encephaloceles predominate in the
occipital region in North America; encephalocele of the anterior cranial
base occur most frequently in Southeast Asia; sincipital encephaloceles
refer to frontonasal, ethmoidal, and orbital subtypes; basal
encephaloceles may be sphenoorbital, maxillary, or ethmoid.
- Treatment is repair of encephalocele via
bifrontal craniotomy or transnasal endoscopic approaches.
- Eosinophilic granuloma (AKA “E.G.”):
- Prepubertal children -> 4-12 years of age
(see Figure 2).
- Estimated incidence at 1-5
- Unifocal or multifocal lytic lesion of the
bone. Abnormal proliferation of a normal antigen-presenting cell, the
Langerhans cell (3).
- 61% of patients presented with solitary bone
lesion, 27% with multiple lesions, 5% have involvement of the
hypothalamic-pituitary axis, and 7% have multiple organ involvement
- Involves inner and/or outer table, punched out
skull lesion on X-ray with sharply defined margins, no sclerosis or
periosteal reaction, no sunburst appearance (as in hemangiomas).
- Usually painful and tender to palpation.
- Spine lesions often present with weakness (see
- Natural history is unknown so treatment
- Most patients with unifocal lesions are
treated with surgical excision by curettage. Subtotally resected lesions
or those surgically inaccessible or recurrent may receive low dose
radiation vs. chemotherapy. Course is variable depending on presentation
ranging from spontaneously resolving unifocal lesion to a fulminant
multisystem disease with multifocal lesions. A bone scan can rule out
more diffuse disease. Plain X-rays are no longer done for routine
screening unless there are any lower extremity symptoms of pain or
- Spontaneously regressing lesions have been
reported and need not be resected (9). In these cases, a biopsy may be
done for diagnostic reasons.
- Eosinophilic granuloma (E.G., unifocal),
mildest form of Langerhans cell histiocytosis (previously referred to as
- Hand-Schuller-Christian disease (multifocal
E.G.): triad of diabetes insipidus, exophthalmos, and bone lesions.
- Letterer Siwe syndrome (fulminant malignant
lymphoma of infancy): multisystem disease occurring in infants, often
treated with chemotherapy for disseminated disease. Cerebral involvement
usually is localized to the hypothalamic-pituitary axis.
- Intraosseous hemangiomas:
- Enlarging, painless masses, frontal bone most
common location (14).
- Lucency on X-ray with honeycomb or trabecular
pattern producing sunburst pattern. May have sclerotic margins.
- Accessible lesions may be cured by en bloc
excision or curettage.
- Enbloc excision of blue-domed mass beneath
- Aneurysmal bone cysts (ABCs):
- Osteolytic expansion of diploic space
- Venous blood-filled.
- Painful, expanding mass.
- Capable of rapid enlargement and spontaneous
- May need to embolize preoperatively (2).
- Rare in skull, more common in spine.
- Thought to occur secondary to an underlying
lesion, giant cell tumor most common followed by osteoblastoma (12).
- Fibrous dysplasia:
- Normal bone is replaced by fibrous connective
- Painless and progressive deformity of
- Potential for visual loss, diplopia, and
- Monoostotic vs. polyostotic involving multiple
osseous sites (McCune-Albright syndrome).
- Surgery for prevention of a neurological
deficit (encroachment of optic nerve with visual loss from fibrous
dysplasia of sphenoid wing) or severe cosmetic deformity.
- Desmoplastic and infantile fibroma:
- Enlarging, painless mass, intradiploic, and
- Round well circumscribed lytic lesions with a
sclerotic rim on skull X-rays.
- Treatment is complete resection.
- Hemorrhage contained between periosteum limited
by the sutures. Can be idiopathic or occur after minor trauma (i.e.,
vacuum extraction, forceps-assisted delivery, intrauterine fetal
- Often resorb within first month of life. May be
aspirated if liquefied although most will resolve spontaneously with
time. No benefit to wrapping.
- May become calcified with associated skull
deformity and require open vs. endoscopic drilling down to the inner
- Need to differentiate this lesion from
subgaleal hematomas in newborns which can expand rapidly to involve
entire scalp and cause severe life-threatening anemia.
- Leptomeningeal cysts or growing skull
- Complication of skull fractures with dural tear
in children <1 yr.
- Pulsation of CSF and/or brain through a dural
tear causes herniation of CSF, meninges, and/or brain.
- Treated with craniotomy for excision of
granulation tissue or gliotic brain, dural repair, and cranioplasty.
- Syndromes associated with benign skull
- Gardner syndrome: multiple osteomas of the
skull, soft tissue tumor of skin, colon polyps.
- McCune-Albright syndrome: polyostotic fibrous
dysplasia, hyperpigmented skin maculed, precocious puberty.
- Ollier syndrome: multiple enchondromas.
- Maffuci syndrome: enchondromas,
dychondroplasia, cavernous hemangioma of soft tissue and viscera.
Table 1: Benign Tumors of the Skull
- RADIOLOGICAL HALLMARKS: Well demarcated, homogenous, arises from
inner or outer table, hot on bone scan
- TREATMENT RECOMMENDATIONS Resection if symptomatic despite
- RADIOLOGICAL HALLMARKS: Well defined dense sclerotic margins,
hypodense on CT, low intensity on T1W and high signal on T2W MRI
- TREATMENT RECOMMENDATIONS resection vs. observation (Is it growing,
symptomatic, or a cosmetic concern?), bone margins curetted
- Eosinophilic Granuloma
- RADIOLOGICAL HALLMARKS: Punched out, non-sclerotic lytic lesion with
sharp margins, may have large associated epidural or extracranial soft
- TREATMENT RECOMMENDATIONS resection of unifocal lesions vs.
observation if lesion decreasing in size (spontaneous resolution can
occur) ± cranioplasty depending on age and size of defect
- RADIOLOGICAL HALLMARKS: Circular lucency with honeycomb or sunburst
(radial trabeculations) pattern
- TREATMENT RECOMMENDATIONS resection vs. observation; en bloc excision
Malignant Skull Tumors (overall incidence 0%-7.7%) (13)
- Sarcomas (osteolytic on X-ray and CT, irregular
- Osteogenic sarcoma
- Most common primary malignancy of bone in
children and adolescents.
- Rare but aggressive neoplasm.
- 6%-7% of all cases present in head and
- Incidence of 1:100,000 per year.
- Chemotherapy has increased 5-year survival
rates for patients with localized tumors to 60%-70%.
- Ewing’s sarcoma
- Second most common bone malignancy affecting
children and young male adults (5).
- Usually presents as solitary skull lesion.
Multifocal Ewing’s sarcoma can occur.
- Poor prognosis with need for systemic treatment
despite local disease.
- Radical surgery often recommended in addition
to multidrug chemotherapy and radiotherapy (see Figure 3).
- Most common extracranial solid tumor in
children. Usually occurs in children under 4 years of age.
- Cranial disease occurs in 5% of patients with
known neuroblastoma. May rarely present as primary central nervous system
- Three eye signs of CNS neuroblastoma are 1)
proptosis, 2) Horner’s syndrome, and 3) opsoclonus.
- Olfactory neuroblastoma (AKA
esthesioneuroblastoma) resembles neuroblastoma histologically but
originates in the nasal or sinus region.
- Rare tumor in skull.
- X-rays show calcification and osteolytic
- Poor prognosis.
- Recommended treatment is resection with wide
- Effectiveness of chemotherapy and radiation
- May occur anywhere along craniospinal axis and
is derived from remnants of fetal notochord.
- Benign pathology but malignant clinical
behavior with destructive growth.
- Chordoma shows positive staining for S-100 and
epithelial markers (cytokeratin and epithelial membrane antigen).
- Surgical resection and high dose radiation
treatment are mainstays of current treatment.
- Metastatic lesions:
- Neuroblastoma, rhabdomyosarcoma, fibrosarcoma,
angiosarcoma, leukemia, and lymphomas.
Tumors of the Spine
- Signs and symptoms:
- Nocturnal pain that wakes the child up from
- Pain is unrelated to activity.
- Rapid increase in pain intensity over short
period of time.
- Pain may manifest as irritability or refusal
- Spinal deformity develops in up to 40% of
children with spinal tumors.
- Neurological deficit is rare (11).
- Cervical spinal tumors should be on
differential for a child with a stiff neck or head tilt.
- Postlaminectomy deformity is a known
complication of surgery for spinal tumors in children.
- Osteomas and osteoblastomas:
- 10% of all osteoid osteomas and 40% of
osteoblastomas occur in the spine. Torticollis and occipital pain are
common with cervical lesions.
- Isolated radiolucent area, termed central
nidus, surrounded by reactive sclerosis, and hot on bone scan.
- Benign tumors, osteomas, and osteoblastomas
are differentiated by size (osteomas < 1.5cm) and are identical
- Complete surgical excision is curative.
- When osteoblastomas are located in the spine,
most of the tumors occur in the lamina, pedicles, or in the transverse
and spinous processes. Vertebral body involvement is unusual, very
limited, and secondary to anterior extension of the tumor. Clinically, a
lesion is suspected to be an osteoblastoma if the pain is less severe at
night than during the day or if it is not relieved by acetylsalicylic
acid, contrary to osteoid osteomas.
- Scoliosis thought to be a muscular response to
- Most common bone tumors in children, may be
solitary or multiple.
- Cartilage covered osseous masses in spinous or
- Most occur in cervical spine.
- Usually a painless, palpable mass.
- Hereditary multiple exostoses or familial
osteochondromatosis are prone to develop these lesions.
- Most common cause of extradural spinal cord
compression in childhood. Accounts for 8% of all pediatric cancers. Most
occur in children younger than 3 yrs of age and are rare after 10 yrs of
- Most common malignancy in infancy (1st year of
life) and most occur in children younger than 3 yrs of age.
- Fourth most common malignancy in childhood
after leukemia, lymphoma, and CNS tumors.
- Clinical manifestations can include fever,
weight loss, malaise, and failure to thrive as well as symptoms secondary
to mass effect.
- Location is primarily abdominal (adrenal)
followed by paraspinal locations (thoracic most common) since it can
arise anywhere along sympathetic nervous system.
- Paraplegia secondary to spinal cord
compression occurs in approximately 10% of patients.
- Catecholamines (vanillylmandelic acid (VMA)
and homovanillic acid (HVA) elevated in serum and urine in >65% of
- Neuroblastomas may regress into more
histologically mature ganglioneuromas in young children but these are
chemoinsensitive and must be resected if symptomatic.
- Treatment involves combination of
chemotherapy, surgery, radiation, and steroids. Disseminated disease at
presentation best treated with chemotherapy.
- Eosinophilic granuloma:
- Benign and solitary bone lesion of unknown
etiology which typically affects children between ages 5 and 15 years
(see Figure 4).
- Lytic bone lesion on X-ray that is cold on
- Vertebral body involvement appears as a
“vertebra plana” (collapsed vertebral body).
- Children present with acute onset of neck pain
and stiffness without history of trauma.
- Suspect in children presenting to ED with
torticollis without any history of trauma.
- Neurological deficit is rare.
- Giant cell tumor:
- Most giant cell tumors of the spine occur in
- Second most common neoplasm of the sacrum
- Frequently lytic and destructive without
- Hemorrhage and necrosis are often present
within the lesion giving it the heterogenous appearance on CT and
- Aneurysmal bone cyst:
- ABCs account for about 1% of primary bone
- Thin-walled, blood-filled expansile masses
that occur in bone.
- 20% arise from vertebral column and typically
involve posterior elements of spine.
- Delineated by a thin rim of bone in contrast
to giant cell tumors.
- Multiple fluid-fluid levels representing
hemorrhage is characteristic of this lesion but not specific.
- Treatment consists of embolization and
complete surgical excision. Percutaneous biopsy should be avoided since
it may lead to hemorrhage due to vascularity.
- In 20%-30% of cases, there is an underlying
lesion, such as an osteoblastoma, hemangioma, fibrous dysplasia, or giant
- Lymphoma and leukemia:
- Common pediatric malignancies although spinal
involvement is rare.
- Respond rapidly to chemotherapy and radiation
which are first line therapies.
- Castleman syndrome:
- Giant lymph node hyperplasia is a rare
- Enhancing epidural paraspinal mass along with
anemia, increased ESR, and fever of unknown etiology.
- Sacrococcygeal teratoma:
- Most common presacral germ cell tumor in
children and the most common solid tumor in neonates (8).
- Most teratomas in infancy and early childhood
- Benign teratomas are predominantly cystic,
have attenuation similar to that of fluid on CT scans, and may include
bone, fat, and calcification. The coccyx is always involved, even in
benign sacrococcygeal teratoma, and must be resected with the tumor.
Malignant teratomas have a predominant solid component and hemorrhage and
necrosis are common.
- Treatment is radical excision.
- Anterior sacral meningocele:
- Congenital abnormality that arises from
herniation of the cerebrospinalfluid-filled dura mater through a sacral
foramen or a defect in the sacral bone.
- When symptoms are present, they are usually
due to mass effect, neurologic compromise, meningitis, or rupture of the
- Scimitar sacrum is highly suggestive of this
condition and is easily recognized on conventional radiographs.
- May be accompanied by other anomalies or
syndromes, including uterine, anorectal, renal and bladder malformations,
Marfan syndrome, and type 1 neurofibromatosis.
- May occur as part of the Currarino triad, also
known as ASP triad (anorectal malformation, sacrococcygeal osseous
defect, and presacral mass), a rare syndrome characterized by autosomal
dominant genetic inheritance in more than 50% of cases. The presacral
mass in those affected by this syndrome may be a teratoma, anterior
sacral meningocele, dermoid cyst, hamartoma, or enteric duplication cyst.
More than one of these types of masses may be present.
- Intradural-extramedullary tumors:
- Account for 25% of intraspinal tumors in
- May include meningiomas, neurofibromas,
schwannomas, myxopapillary ependymomas, and dermoid/epidermoid cysts.
- Intramedullary spinal cord tumors:
- Account for about 5% of all pediatric CNS
- Astrocytomas, gangliogliomas, and ependymomas
are most common.
Malignant Bone Tumors of the Pediatric Spine
- If a malignant spinal tumor is suspected, the biopsy site should be
marked for subsequent en bloc removal with the specimen if needed.
Chemotherapy often given prior to tumor surgery to reduce the size of the
tumor, with negative margins being more feasible. Primary symptom of a
child with a malignant bone tumor is pain, which often occurs at rest or
- Chordomas are rare in children <10 yrs of
- Arise from notochordal remnants in the
- Most common primary malignant sacral
- Lytic destruction on CT with extraspinal
extension of a soft tissue mass on MRI (hyperintense on T2-weighted
images due to physaliphorous cells).
- Most common finding for chordoma at
craniocervical junction is isolated hypoglossal nerve palsy.
- Recommended treatment is radical en bloc
surgical excision due to high rate of local recurrence. Radiation may be
used as adjuvant therapy if complete resection infeasible.
- Osteogenic sarcoma (osteosarcoma):
- Most frequent primary malignant bone tumor in
- Spinal involvement is rare.
- Lumbosacral spine is most common location.
- Lytic, osteoblastic, or mixed lesion on
- Ewing’s sarcoma:
- Ewing’s sarcoma is most common sarcoma
involving the pediatric spine and accounts for 6% of bone tumors, of
which, 5% to 10% originate in the spine. Metastatic involvement of spine
by tumors with an extraspinal origin is more common.
- Classically involves vertebral body before the
- Lytic, sclerotic, or mixed features in the
- Lytic bone destruction may lead to vertebral
plana but disc height preserved.
- Pathologically resemble small round blue cell
tumors not dissimilar to primitive neuroectodermal tumors.
- Most common clinical presentation is localized
pain but fever, weight loss, and elevated erythrocyte sedimentation rate
(ESR) may occur.
- Surgery often necessary for decompression of
spine. Chemotherapy often started prior to surgery. Goal of surgery is
wide radical excision if possible.
- Localized disease at presentation, axial
tumors, and age <15 have best prognosis.
- Cochtrane LA, Prince M, Clarke K: Langerhans’ cell histiocytosis
in the pediatric population: presentation and treatment of head and neck
manifestations. J Otolaryngol 32:33-37, 2003.
- Daszkiewicz P, Roszkowski M, Grajkowska W: Aneurysmal bone cyst of the
skull and vertebrae in child of own material and review of literature.
Folia Neuropathol 24:25-30, 2004.
- Davidson L, McComb G, Bowen I, Krieger M: Craniospinal Langerhans cell
histiocystosis in children: 30 years’ experience at a single
institution. J Neurosurg Pediatr 1:187-195, 2008.
- Gibson SE, Prayson RA: Primary skull lesions in the pediatric
population. Arch Pathol Lab Med 131:761-766, 2007.
- Guzel A, Tatli M, Er U, Yilmaz F, Bavbek M: Multifocal Ewing’s
sarcoma of the brain, calvarium, leptomeninges, spine, and other bones in
a child. J Clin Neurosci 15:813-817, 2008.
- Heckl S, Aschoff A, Kunze S. Cavernomas of the skull: review of the
literature, 1975-2000. Neurosurg Rev 25:56-62, 2000.
- Kaplan SB, Kemp SS, Oh KS: Radiographic manifestations of congenital
anomalies of the skull. Radiol Clin North Am 29:195-218, 1991.
- Kocaoglu M, Frush D: Pediatric presacral masses. Radiographics
- Oliveira M, Steinbok P, Wu J, Heran N, Cochrane D: Spontaneous
resolution of calvarial eosinophilic granuloma in children. Pediatr
Neurosurg 38:247-252, 2003.
- Ruge JR, Tomita T, Naidich TP, Hahn YS, McLone DG: Scalp and calvarial
masses of infants and children. Neurosurgery 22:1037-1042, 1988.
- Sciubba DM, Hsieh P, McLoughlin G, Jallo G: Pediatric tumors involving
the spinal column. Neurosurg Clin N Am 19:81-92, 2008.
- Segall L, Cohen-Kerem R, Ngan BY, Forte V: Aneurysmal bone cysts of the
head and neck in pediatric patients: a case series. Int J Pediatr
Otorhinolaryngol 72:977-983, 2008.
- Tsai EC, Santorenos S, Rutka J: Tumors of the skull base in children:
review of tumor types and management strategies. Neurosurg Focus 12:1-13,
- Yoon SH, Park SH. A study of 77 cases of surgically excised scalp and
skull masses in pediatric patients. Childs Nerv Syst 24:459-465,