J Neurosurg 58:937-940, 1983

Leptomeningeal angiomatosis and aplasia congenita
of the scalp
Case report
EUGENIO POZZATI, M.D., ROBERTO PADOVANI, M.D., FRANCO FRANK, M.D., AND
GIULIO GAIST, M.D.
Division of Neurosurgery, Bellaria Hospital, Bologna, Italy

~/ This 9-year-old boy had two circular areas of aplasia congenita of the scalp in the territory of the first
division of the trigeminal nerve and an ipsilateral parieto-occipital leptomeningeal capillary venous
angioma. He had an associated giant aneurysm of the distal posterior cerebral artery on the same side as
the vascular malformation. The patient had a long history of seizures and presented with intracerebral
bleeding. This case may be considered as a variant of Sturge-Weber syndrome. Further observations must
be added to consider this entity as a separate neurocutaneous disease.
KEY WORDS
aplasia cutis congenita
9 cerebral aneurysm
9
congenital scalp defect
9 intracranial hemorrhage
9 neurocutaneous syndrome
Sturge-Weber syndrome
9

F

IVE entities are usually grouped under the
category of neurocutaneous syndromes: 3,4,s 1)
multiple neurofibromatosis (von Recklinghausen's disease); 2) encephalotrigeminal angiomatosis
(Sturge-Weber disease); 3) tuberous sclerosis; 4) von
Hippel-Lindau disease; and 5) ataxia telangiectasia.
Another entity (the linear nevus sebaceous syndrome),
characterized by the triad of midline linear nevi,
mental retardation, and seizuresf1,12 and, in addition,
nonfunctioning major venous sinuses 2 and leptomeningeal hemangioma, la exhibits important similarities
to the Sturge-Weber syndrome. It is now considered
as a separate neurocutaneous disease.
We report the case of a patient who had an intracranial malformation typical of an encephalotrigemihal angiomatosis (leptomeningeal venous-capillary angiomatosis) without the vascular anomaly of the skin
(port-wine nevus) usually found in this disease. In
our case, the skin defect was represented by two circular areas of scalp aplasia on the left side of the forehead. Aplasia congenita of the scalp is the absence of
epidermis, dermis, and sometimes subcutis, dura, and
bone from one or more circumscribed areas? 8 This
subject was recently reviewed by Muakkassa, et al., ~4
and will not be discussed in detail.
J. Neurosurg. / Volume 58 / June, 1983

Our patient belongs to Group 1 of congenital defects of the scalp (partial thickness defects) described
by Kosnik and Sayers 1~and Lynch and Kahn. 11 This
group includes those patients with small and sharply
demarcated circular defects of the scalp, 2 cm or less
in diameter. We do not know if the entity we have
observed represents a variant of the Sturge-Weber
disease or a separate neurocutaneous syndrome. Although further observations must be described to
warrant classifying this association as a separate neurocutaneous disease, the presence of congenital aplasia of the scalp should suggest the possibility of a
concomitant leptomeningeal angiomatosis.
Case Report

This 9-year-old boy was admitted to our hospital
because of the sudden onset of headache, vomiting,
and right hemiparesis. The medical history revealed
that he had been born with two small alopecic areas
on the left side of the forehead. Seizures were present
since infancy. Gestation and delivery were reported
as normal. No family history of unusual skin abnormalities was elicited.
Examination. Neurological examination disclosed
937

E. P o z z a t i , et al.

FIG. 1. Top view of the scalp showing two bald slightly
depressed circular areas of aplasia cutis congenita on the
left side of the forehead.
a right-sided hypotonic hemiparesis. Homonymous
hemianopsia was present on the right. There were
two bald slightly depressed circular areas, about 2 cm
in diameter, on the left side of the forehead in the
territory of the first division of the trigeminal nerve
(Fig. 1). Ophthalmological examination was normal.
Skull x-ray fdms revealed "tram-line" calcifications
in the left parieto-occipital region (Fig. 2). The bone
underlying the scalp defect was normal.

FIG. 2. Cranial roentgenograms, lateral view, showing
"tram-line" calcifications in the left parieto-occipital region.
938

Computerized tomography (CT) showed marked
calcifications in the left parieto-occipital region. There
was left cerebral atrophy and shift of the midline to
the left (Fig. 3left). 5 A n intracerebral hematoma with
ipsilateral ventricular penetration was present deep in
the left parietal lobe (Fig. 3 right). Contrast medium
was not given. Apart from a segmental dysplasia of a
peripheral branch of the middle cerebral artery, findings from the left carotid angiogram were negative
(Fig. 4 left). Vertebral angiograms showed a giant
aneurysm of the distal left posterior cerebral artery.
The vessel was diffusely narrowed (Fig. 4 right).
Operation. A left parieto-occipital craniotomy was
performed. The leptomeninges were thickened, opacified, and contained a mass of blood vessels. The left
occipital lobe and a small portion of the left parietal
and temporallobes were resected. The giant aneurysm
of the posterior cerebral artery was clipped and excised.
Pathological Examination. Microscopic examination revealed extensive venous and capillary angiomatosis of the leptomeninges. The underlying cortex
showed several zones of calcification. Biopsy of the
scalp defect revealed total absence of the skin appendages (such as hair follicles and sebaceous glands),
with a layer of flat epithelial cells covering the dermis.
Postoperative Course. The postoperative course was
uneventful. At dismissal 3 weeks after surgery, the
fight hemiparesis was unchanged. The patient has
had no seizures since the operation.
Discussion

The most frequent cerebrovascular anomaly in encephalotrigeminal angiomatosis is represented by a
capillary venous angioma of the leptomeninges, often
located in the posterior parietal and occipital re-

FIG. 3. Plain computerized tomography scans demonstrating marked cortical calcifications involving the left
parieto-occipital region and an intracerebral parietal hematoma with ipsilateral ventricular penetration. Note the shift
of the midline to the left associated with a small left hemicranium.
J. Neurosurg. / Volume 58 / June, 1983

Angiomatosis and aplasia congenita of scalp

Fie. 4. Left: Left carotid angiogram, lateral view, showing a
segmental dysplasia of a peripheral branch of the left middle cerebral
artery (arrow). Right: Vertebral angiogram, anteroposterior view,
showing the giant aneurysm of the left posterior cerebral artery (distal
portion). The vessel is diffusely narrowed.

gions. 4,15-17,~9Poser and Taveras 17grouped under atypical Sturge-Weber syndrome those patients with some
type of vascular anomaly of the skin of the face other
than the typical port-wine nevus. The facial anomalies
in these cases consisted of raised hemangioma, enlarged veins involving the trigeminal area, and hyperpigmentation of the skin in the distribution of the
trigeminal nerve.
Besides leptomeningeal venous angioma, cerebrovascular anomalies in patients with Sturge-Weber
syndrome include: true arteriovenous malformations,
arterial thrombosis, anomalies of veins and venous
sinuses, abnormalities within the territory of the external carotid artery, and miscellaneous abnormalities
such as subdural hematoma. ~,16,~9 Aneurysms were
never found in association with cerebral leptomeningeal angiomatosis. Extensive dysplasia with segmental
narrowing and dilatation of the peripheral leptomeningeal arteries was observed by Hilal, et al., s in
patients with Sturge-Weber syndrome. Although intracranial bleeding "appears to be a fairly unusual
complication" of Sturge-Weber syndrome, 15the presence of such an arterial dysplasia may constitute a
basis for aneurysm formation and possible intracranial hemorrhage in the affected patients, as our case
demonstrates.
Several factors seem to indicate a close relationship
between the Sturge-Weber disease and the disorder
we have observed. These factors include the pathological findings, the typical parieto-occipital location of
J. Neurosurg. / Volume 58 / June, 1983

the cerebrovascular malformation, the intracranial lesion on the same side as the anomaly, and the scalp
defect in an area supplied by the trigeminal nerve.
Kjaer a believes that some scalp defects might result
from spontaneous intrauterine involution of a hemangioma. It is possible that the skin defect in our
case represents the healing of a "vascular lesion" similar to lesions found in cases of Sturge-Weber syndrome. 19Thus, aplasia of the scalp may represent the
"equivalent" of the typical facial nevus. Another hypothesis may be postulated. Since the skin near the
vertex is supplied by blood from the primitive meninges, 9 a maldevelopment of the vascular area of the
superficial bed normally supplying the meninges, as
occurs in Sturge-Weber disease, might lead to concomitant leptomeningeal angiomatosis and primary
scalp defect.
Associated cerebral anomalies reported with congenital scalp aplasia include hydrocephalus, meningocele and encephalocele, arrhinencephaly, hydranencephaly, 14 and unconfirmed defects in early
development of the telencephalon. 7The simultaneous
occurrence of leptomeningeal angiomatosis with congenital scalp defects has not been described previously. Due to the fact that deposition of calcium
within a leptomeningeal angioma may not be demonstrated in the very young, but may increase with
time, 4 control skull x-ray films and/or CT scanning
should be performed as patients showing a congenital
scalp defect grow older.
939

E. Pozzati, et al.
References

I. Bentson JR, Wilson GH, Newton TH: Cerebral venous
drainage pattern of the Sturge-Weber syndrome. Radiology 101:111-118, 1971
2. Chalhub EG, Volpe J J, Gado MH: Linear nevus sebaceous syndrome associated with porencephaly and nonfunctioning major cerebral venous sinuses. Neurology
25:857-860, 1975
3. Chao DH: Congenital neurocutaneous syndromes in
childhood. I. Neurofibromatosis. J Pediatr 55:189-199,
1959
4. Chao DH: Congenital neurocutaneous syndromes of
childhood. III. Sturge-Weber disease. J Pediatr 55:
635-649, 1959
5. Enzmann DR, Hayward RW, Norman D, et al: Cranial
computed tomographic scan appearance of SturgeWeber disease: unusual presentation. Radiology 122:
721-724, 1977
6. Feuerstein RC, Mires LC: Linear nevus sebaceous with
convulsions and mental retardation. Am J Dis Child
104:675-679, 1962
7. Fowler GW, Dumars KW: Cutis aplasia and cerebral
malformation. Case report. Pediatrics 52:861-864, 1973
8. Hilal SK, Solomon GE, Gold AP, et al: Primary cerebral arterial occlusive disease in children. Part II, Neurocutaneous syndromes. Radiology 99:87-94, 1971
9. Kjaer M: Congenital skin defects. Acta Derm Venereol
48:608-61 l, 1968
10. Kosnik EJ, Sayers MP: Congenital scalp defects: aplasia
cutis congenita. J Neurosurg 42:32-36, 1975
11. Lynch P J, Kahn EA: Congenital defects of the scalp. A
surgical approach to aplasia cutis congenita. J Neurnsurg 33:198-202, 1970

940

12. Marden PM, Venters HD Jr: A new neurocutaneous
syndrome. Am J Dis Child 112:79-81, 1966
13. Mollica F, Panone L, Nuciforo S: Linear nevus sebaceous syndrome in a newborn. Am J Dis Child 128:
868-872, 1974
14. Muakkassa KF, King RB, Stark DB: Nonsurgical approach to congenital scalp and skull defects. J Neurosurg 56:711-715, 1982
15. Nellhaus G, Haberland C, Hill B J: Sturge-Weber disease with bilateral intracranial calcifications at birth
and unusual pathologic findings. Acta Neurol Scand
43:314-347, 1967
16. Newton TH, Troost BT: Arteriovenous malformations
and fistulae, in Newton TH, Potts DG (eds): Radiology
of the Skull and Brain, Vol II. St Louis: CV Mosby,
1974, Book 4, pp 2490-2565
17. Poser CM, Taveras JM: Cerebral angiography in encephalotrigeminal angiomatosis. Radiology 68:327-336,
1957
18. Rook A, Wilkinson DS, Ebling FJG: Textbook of
Dermatology, ed 2. Oxford: Blackwell Scientific, 1972,
pp 327-336
19. Wolpert SM: Vascular studies of congenital anomalies,
in Newton TH, Potts DG (eds): Radiology of the Skull
and Brain, Vol II. St Louis: CV Mosby, 1974, Book 4,
pp 2700-2760

Manuscript received September 17, 1982.
Address reprint requests to: Eugenio Pozzati, M.D., Divisione Neurochirurgica, Ospedale Bellaria, 40139 Bologna,
Italy.

J. Neurosurg. / Volume 58 / June, 1983