Case reports
ORGANOID NEVUS SYNDROME (LINEAR NEVUS SEBACEUS OF JADASSOHN): CLINICAL AND RADIOLOGICAL STUDY OF A CASE P. G. Barth, J. Valk, G. L. Kalsbeek and A. Blom
Barth, P. G., Valk, ]., Kalsbeek, G. L. and Blom, A.: Organoid nevus syndrome (linear nevus sebaceus of Jadassohn): Clinical and radiological study of a case. Neuropadiatric 8: 418—428 (1977). A 3V2^year-old boy with this syndrome is reported. The clinical features were: lineai organoid nevus, characteristically involving the midline of the face with extension to one side (right side in this case), hemimacrocephaly, mental and motor retardation, epilepsy originating from a focus in the right hemisphere, a malformed hemisphere and ventricular system on the right side on pneumoencephalographic and angiographic study and a hamartoma-like malformation protruding into the frontal horn of the right lateral ventricle.
Introduction Nevus sebaceus is a relatively uncommon congenital skin condition, described for the first time by Jadassohn (1895). Clinical and histological studies have shown that often more than one component of the skin is involved, not only the sebaceous glands, but also other adnexal structures (hair, sweat glands), the connective tissue, and the epidermis may participate in the nevus formation. Furthermore they may be associated with a variety of secondary nevoid tumors, ranging from basal cell epithelioma, papilliferous syringadenoma, etc. On the above grounds the name organoid nevus, that was also coined by Jadassohn (1895), is to be preferred because "nevus sebaceus" indicates only one aspect of this clinical and histological entity. This mostly single, but sometimes Received: February 21, 1977
multiple, lesion is most often localized on the scalp, associated with circumscribed alopecia, and furthermore on the face (especially the forehead, the temples and the neck). The lesion may be linear, band-like, round or oval. In 1957 Schimmelpenning drew attention to the association with affections of the CNS, skeletal system and eyes. In 1962 Feuerstein and Minis brought the condition of linear nevus sebaceus associated with epilepsy and mental retardation to the attention of the American pediatricians. Since then at least 22 detailed case reports have appeared with the features of linear nevus sebaceus, mental retardation and epilepsy. The present case report deals with an additional observation of this syndrome and adds another feature to the emerging spectrum of the condition.
Accepted: March 18, 1977
Address: P. G. B., Pediatric Dept., Free University Hospital, de Boelelaan 11117, Post Office Box 7057, Amsterdam 1011, The Netherlands
418
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Departments of Pediatrics and Dermatology, Free University Hospital, Amsterdam, Department of Neuroradiology. Valerius Clinic, Amsterdam
Fig. 1 Linear nevus in the face, affecting the midline and the right side of the facial skin
Case report The patient was a Y/z-years-old boy from healthy Tunisian parents. An older and a younger male sib were healthy. The family history was non-revealing: consanguinity, birth marks, oligophrenia, epilepsy and eye affections were not known in other members of the family. Pregnancy was uneventful, without exposition to known teratogens. Birth was spontaneous, a t term and without complications. Birthweight was 3100 grams. H e was placed in an incubator because of cyanosis. The first 14 days he had to be fed by gavage. Immediately after birth a linear yellowish lesion localized in the midline of the face was noticed. From the age of 6 months he had fre-
quent generalized tonic-clonic convulsions. His development was slow: he sat unsupported a t the age of two years, walked with support a t three years, with a broad base and exorotated hips. At three years there was lack of any verbal achievement. His play was destructive; his behaviour was affectionate. Physical examination a t 3 I / z years showed normal somatic measurements: length was 91 cm, weight 14,7 kgm, head circumference 52 cm. The face was asymmetric with more fullness of the soft parts on the right side. In the centre of the face, extending from the right side of the forehead to the tip of the nose, there was a slightly elevated circumscribed linear dark yellowish lesion with a fine papillomatous granular surface. In front of the right ear, under the right eye, there was a similar looking oval lesion (3-4 cm in diameter) with a more patchy distribution. O n the upper and lower lip somewhat to the right side of the midline, a band-like lesion with the aspect of leukoplakia was present. There was an incisure in the left upper medial incisor (Fig. 1). Further examination of the skin and internal organs did not reveal any abnormalities. The eyes were normal except for some slight pigment dispersion in the fovea of the right eye. Neurological examination gave the following results. H e showed affectionate behaviour but was unable to speak and caught attention by screaming. Cranial nerve functions were normal. Motor function of the upper extremities was normal, including fine manipula-
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Organoid nevus syndrome
Fig, 2 The biopsy shows diffuse hyperkeratosis, follicular plugging, slight papillomatosis and acanthosis of the epidermis. The dermis contains partly immature hair-follicles and sebaceous glands, and there is fibrosis. H & E. Staining, 52 x
Fig. 3 Pneumoencephalography. AP view in brow up position, showing differences in shape and level of the lateral ventricles. Note that the contour of the calvarium on the right side is more rounded than on the left side
Fig. 4 Pneumoencephalography. Lateral exposure in brow down position. The highest arrow points to the triangular part of the right lateral ventricle. The picture falsely suggests an expanding lesion in the left parieto-occipital region
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Barth et al.
Organoid nevus syndrome
tion. There was no clear dominant side. He was able to stand with support at the hips. Walking with support was broad-based and with exorotated hips. Muscle tone in the hips was low. Tendon reflexes were normal, Babinski reflexes were negative. Laboratory investigations
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The following examinations gave normal results: Morphological blood studies, liver- and kidney function tests,
levels of lactate and pyruvate in blood while fasting and after glucose loading, glycosaminoglycan-excretion and amino-acid excretion in the urine. In the CSF, cell count, total protein content, LDH, GOT and CPK were normal. The electroencephalogram showed generalized slowing with focal spikewave complexes over the posterior part of the right hemisphere. Visual evoked cortical responses were negative. Motor conduction tests of the ulnar and pero-
Fig. 5 AP tomography in brow up position showing the irregular outline of the right lateral ventricle. The interpeduncular cistern on the right side is larger than the left side. The basilar artery (arrow) has a normal appearance
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Fig. 6 Lateral tomography in brow up position of the frontal part of the right lateral ventricle. The arrows point to abnormal tissue masses projecting into the frontal horn of the right ventricle
neal nerve on the left side were within normal limits. Electr~retinograph~ gave normal results on both sides. A biopsy from the lesion on the nose showed diffuse hyperkeratosis, with follicular plugs and some irregular acanthosis of the epidermis. The dermis showed some fibrosis and several underdeveloped pilosebaceous complexes. The sebaceous glands did not show any sign of hypertrophy. The epidermal changes were consistent with a diagnosis of nevus verrucosus, the changes of epidermis and dermis were consistent with organoid nevus (Fig. 2). X-ray studies of the long bones, pelvis, and vertebral column did not reveal any abnormalities.
Lumbar pneumoencephalography The lateral ventricles were asymmetric in shape and position. The right lateral ventricle was located higher than the left one, moderately enlarged, with diminished impression of the caudate nucleus. Lateral tomography of the right lateral ventricle showed two tissue masses bulging into the frontal horn (Fig. 3 , 4 , 5 , 6 ) . Carotid angiography The course of the cerebral vessels clearly indicated that the right cerebral hemisphere was much larger than the left one. The right middle cerebral artery showed paucity of opercular and sylvian branches suggesting a developmental defect of opercularization (Fig. 798).
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Organoid nevus syndrome
Fig. 7 and 8 A P and lateral angiogram of the right internal carotid artery. Shift of the anterior cerebral artery toward the left side. The middle cerebral artery is situated too high and no insular or opercular branches can be seen
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Fig. 9 and 10 AP and lateral angiogram of the right internal carotid artery. Venous phase. The position of the superior sagittal sinus is asymmetric. The right cerebral hemisphere occupies about two thirds of the intracranial space. The deep veins show abnormal patterns (see text)
Fig. I I Lateral radiograph of the internal carotid angiography of the left side. Arrows point to the pseudo-avascular zone in the parieto-occipital region. On this side the opercular branches are well developed
The venous phase on the right side revealed the absence of the inferior sagittal sinus and the straight sinus. The deeper venous structures were emptying into veins that connected directly with the transverse sinus (Fig. 9,lO). The angiography of the left internal carotid artery showed normal vascular patterns (Fig. 11). Discussion The nevus
Mehregan and Pinkus (1965) described 150 organoid nevi without neurological involvement. Most of them were localized on the scalp. In the 22 more or less extensive descriptions on nevus sebaceus associated with neurological symptoms, there were variations in extent and distribution of the lesions. However, in all cases the lesions bordered the midline of the face. In 20 ca-
ses the distribution in the face was asymmetrical. Linear nevi of the same aspect on other parts of the body were present in 5 cases: Lansky et al. (1972), cases 1 and 2, Hornstein et al. (1974), Mollica et al. (1974), Wauschkuhn et al. (1971). It appears that in most cases where an organoid nevus exists there are no neurological symptoms. However, an organoid nevus bordering the midline of the face seems to be especially associated with neurological involvement. No cases have been described with overlapping symptoms of other neurocutaneous syndromes, e. g. tuberous sclerosis. Tuberous sclerosis was excluded in our case because the typical skin lesions, such as angiofibromata (Pringle lesions, adenoma sebaceum) of the face, subungual fibromata, shagreen plaques and white leaf spots were not present.
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Organoid nevus syndrome
I t should be emphasized that nevus sebaceus is not to be confused with the typical facial lesions of tuberous sclerosis, called adenoma sebaceum. Actually the name adenoma sebaceum is a misnomer, because the Pringle lesion of the face in M. Bourneville-Pringle is characterized by a hyperplasia of vascular connective tissue and not of sebaceous glands. The organoid nevus as described in our case and in others is not seen in association with M. Bourneville-Pringle. The eye symptoms Involvement of one or both eyes has been described 10 times among the 22 case descriptions cited above: Marden et al. (1966), Moynahan et al. (1967), Sugarman et al. (1969), Denk et al. (1971), Hornstein et al. (1974), Schimmelpenning (1957), Jancar (1970), Geissler (1966), Bitter (1971), Mollica et al. (1974). Lipodermoids of the conjunctivae, vascularisation of the corneae, microphthalmia, superior colobomata of the lids, the irides and chorioretinal layers have been described. The visceral organs Aortic coarctation was mentioned in the cases of Bitter (1971) and Marden et al. (1966). Renal abnormalities were described by Lansky et al. (1972) (Case 1) as congenital bilateral nodular nephroblastomatosis. Mollica et al. (1974) described horseshoe kidney and multiple dysplastic metanephric foci. I n the last case mentioned also a cystic biliary adenoma was found a t autopsy.
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The skeletal system Osteoclastoma of the maxilla was noticed by Bitter (1971), ameloblastoma of the mandible by Lovejoy et al. (1973) Case 2. Patchy sclerotic areas of the calvarium on the side of the skin lesions were mentioned by Schimrnelpenning (1957). Extensive changes resembling osteomalacia were described by Sugarman ct al. (1967). The nervous system Epilepsy is the single neurological symptom mentioned most often. I n the 22 cases alluded to, epileptic phenomena were described in 18. Interestingly the EEG showed focal disturbances in 12 cases corresponding to the side of maximal skin involvement. A hypsarrhythmic pattern was described in 2 cases. O u r own case also showed focal electrocnccphalographic abnormalities corresponding to the side of the face predominantly involved. Mental retardation in different degrees was present in 14 cases. Sugarmarz et al. (1969) mention spastic quadriplegia. The case of Schimmelpennig (1957) showed hcmiparesis contralateral to the side of maximal skin involvement. Hemimacrocephaly also seems to be associated with this entity, since it is specifically mentioned in 4 cases: Marden and Venters (1966), M o ~ n a h a net al. (1967), Hornstein et al. (1974), Chalhub et al. (1975). I t may be, however, that in other cases less impressive differences in the volume of the hemispheres, failed to attract attention. The localization of the hemimacrocephaly corresponds to the side of the greatest
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On rapporte d'un garSon d'ige de trois ans et demi, soufirant du syndrome de "naevus sebaceus linkair". Les indices cliniques ktaient: "naevus organoide linkair", comprenant caractkristiquement la ligne mkdiane de la face et s'ktendant au cStk droit, hkmimacrocephalie, retard psychomoteur, kpilepsie, provenant d'un foyer dans l'hkmisphkre droit, et selon les recher-
che~pneumoencephalographiques et angiographiques une malformation ressemblant un hamartome prokminant dans le ventricule latkral droit. References Bianchine, J. W.: The nevus sebaceous of Jadassohn. Am. J. Dis. Child. 120: 223228 (1970). Bitter, K.: Uber die Erstbeobachtung eines angeborenen Naevus Sebaceus im Trigeminusbereich mit Gehirnmii3bildungen und Riesenzellgeschwiilsten des Ober- und Unterkiefers. Dtsche Zahn-, Mund- und Kieferheilkunde 56, H 112, 17-24 (1971). Chalhub, E. G., Volpe, J. J. and Gado, M. H.: Linear nevus sebaceous syndrome associated with porencephaly and nonfunctioning major cerebral venous sinuses. Neurology 25: 857-859 (1975). Conner, A. E. and Bryan, H.: Nevus sebaceous of Jadassohn. Am. J. Dis. Child. 114: 626-630 (1967). Denk, R.: Schimmelpenning-Syndrom. Med. Welt 22, H. 16: 666-668 (1971). Feuerstein, R. C. and Mims, L. C.: Linear nevus sebaceus with convulsions and mental retardation. Am. J. Dis. Child. 104: 675679 (1962). Geissler, H.: Systematisierter Naevus sebaceus in Kombination mit epileptiformen Krampfanfallen (fragliche tuberose Hirnsklerose). Derm. Wschr. 152: 1291 (1966). Herbst, B. A. and Cohen, M. E.: Linear nevus sebaceus. A neurocutaneous syndrome associated with infantile spasms. Arch. Neurol. 24: 317-322 (1971). Hornstein, 0. P. and Knickenberg, M.: Zur Kenntnis des Schimmelpenning-FeuersteinMims-Syndroms (Organoide Naevus-Phacomatose). Arch. Derm. Forsch. 250: 33-50 (1974). Jadassohn, J.: Bemerkungen zur Histologic dcr systematisierten Naevi und uber ,,Talgdrusen-Naevi". Arch. Derm. Syph. 33: 355-394 (1895). Jancar, J., Naevus syringocystadenomatosus papilliferus with skull and brain lesions, hemiparesis, epilepsy and mental retardation. Brit. J. Derm. 82: 402-405 (1970).
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skin involvement. Pneumoencephalographic studies in 10 cases revealed asymmetric widening of the lateral ventricles with maximal extension on the side of predominant skin involvement in 6 cases. Generalized widening was found in 1 case. A normal ventricular system was found in 2 cases. In none of these 10 cases intraventricular masses have been described. The case of Chalhub et al. (1975) is interesting because to our knowledge it contains the only previous report of cerebral angiographic studies. Non-functioning major cerebral sinuses were found in that case. Detailed neuropathological investigation has not yet been reported in any case. In conclusion we believe that the present case adds to the wide spectrum of the disease the feature of a tumor-like cerebral malformation. The combined occurrence of hemimacrocephaly, unilateral ventricular widening and an epileptic focus, all corresponding to the side of the largest skin involvement, is a feature that our case shares with several other cases descri,bed in detail before.
12. Lansky, L. L., Funderburk, S., Cuppage, F. E., Schimke, N. and Diehl, A. M.: Linear sebaceous nevus syndrome. A hamartoma variant. Am. J. Dis. Child. 123: 587-590 (1972). 13. Lantis, S., Leyden, J., Thew, M. and Heaton, C.: Nevus sebaceus of Jadassohn. Part of a new neurocutaneous syndrome? Arch. Derm. 98: 117-123 (1968). 14. Lovejoy, F. H. and Boyle, W. E.: Linear nevus sebaceous syndrome: report of two cases and a review of the literature. Pediatrics 52: 382-387 (1973). 15. Marden, P. M. and Venters, H . D.: A new neurocutaneous syndrome. Am. J. Dis. Child. 112: 79-81 (1966). 16. Mehregan, A. H. and Pinkus, H.: Life history of organoid nevi. Arch. Derm. 91: 574-587 (1965). 17. Mollica, F., Pavone, L. and Nuciforo, G.: Linear sebaceous nevus syndrome in a newborn. Am. J. Dis. Child. 128: 868-870 (1974). 18. Monahan, R. H., Hill, C. W, and Venters, H . D.: Multiple choristomas, convulsions and mental retardation as a new neuro-
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20.
21. 22.
23.
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cutaneous syndrome. Am. J. Ophth. 64: 529-532 (1967). Moynahan, E. J. and Wolff, 0. H.: A new neuro-cutaneous syndrome (skin, eye and brain) consisting of linear naevus, bilateral lipo-dermoid of the conjunctivae, cranial thickening, cerebral cortical atrophy and mental retardation. Brit. J. Derm. 79: 651-652 (1967). Schimmelpenning, G . W.: Klinischer Beitrag zur Symptomatologie der Phakomatosen. Fortschr. Rontgenstr. 87: 716-720 (1957). Solomon, L. M., Fretzin, D. F. and Dewald, R. L.: The epidermal nevus syndrome. Arch. Derm. 97: 273-285 (1968). Sugarman, G. I. and Reed, W. B.: Two unusual neurocutaneous disorders with facial cutaneous signs. Arch. Neurol. 21: 242-247 (1969). Wauschkuhn, J. and Rohde, B.: Systematisierte Talgdrusen-, Pigment- und epitheliale Naevi mit neurologischer Symptomatik. Feuerstein-Mimssches Neuroektodermales Syndrom. Der Hautarzt. 21, H . 1: 10-13 (1971).
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Barth e t al.
ORGANOID NEVUS SYNDROME (LINEAR NEVUS SEBACEUS OF JADASSOHN): CLINICAL AND RADIOLOGICAL STUDY OF A CASE P. G. Barth, J. Valk, G. L. Kalsbeek and A. Blom
Barth, P. G., Valk, ]., Kalsbeek, G. L. and Blom, A.: Organoid nevus syndrome (linear nevus sebaceus of Jadassohn): Clinical and radiological study of a case. Neuropadiatric 8: 418—428 (1977). A 3V2^year-old boy with this syndrome is reported. The clinical features were: lineai organoid nevus, characteristically involving the midline of the face with extension to one side (right side in this case), hemimacrocephaly, mental and motor retardation, epilepsy originating from a focus in the right hemisphere, a malformed hemisphere and ventricular system on the right side on pneumoencephalographic and angiographic study and a hamartoma-like malformation protruding into the frontal horn of the right lateral ventricle.
Introduction Nevus sebaceus is a relatively uncommon congenital skin condition, described for the first time by Jadassohn (1895). Clinical and histological studies have shown that often more than one component of the skin is involved, not only the sebaceous glands, but also other adnexal structures (hair, sweat glands), the connective tissue, and the epidermis may participate in the nevus formation. Furthermore they may be associated with a variety of secondary nevoid tumors, ranging from basal cell epithelioma, papilliferous syringadenoma, etc. On the above grounds the name organoid nevus, that was also coined by Jadassohn (1895), is to be preferred because "nevus sebaceus" indicates only one aspect of this clinical and histological entity. This mostly single, but sometimes Received: February 21, 1977
multiple, lesion is most often localized on the scalp, associated with circumscribed alopecia, and furthermore on the face (especially the forehead, the temples and the neck). The lesion may be linear, band-like, round or oval. In 1957 Schimmelpenning drew attention to the association with affections of the CNS, skeletal system and eyes. In 1962 Feuerstein and Minis brought the condition of linear nevus sebaceus associated with epilepsy and mental retardation to the attention of the American pediatricians. Since then at least 22 detailed case reports have appeared with the features of linear nevus sebaceus, mental retardation and epilepsy. The present case report deals with an additional observation of this syndrome and adds another feature to the emerging spectrum of the condition.
Accepted: March 18, 1977
Address: P. G. B., Pediatric Dept., Free University Hospital, de Boelelaan 11117, Post Office Box 7057, Amsterdam 1011, The Netherlands
418
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Departments of Pediatrics and Dermatology, Free University Hospital, Amsterdam, Department of Neuroradiology. Valerius Clinic, Amsterdam
Fig. 1 Linear nevus in the face, affecting the midline and the right side of the facial skin
Case report The patient was a Y/z-years-old boy from healthy Tunisian parents. An older and a younger male sib were healthy. The family history was non-revealing: consanguinity, birth marks, oligophrenia, epilepsy and eye affections were not known in other members of the family. Pregnancy was uneventful, without exposition to known teratogens. Birth was spontaneous, a t term and without complications. Birthweight was 3100 grams. H e was placed in an incubator because of cyanosis. The first 14 days he had to be fed by gavage. Immediately after birth a linear yellowish lesion localized in the midline of the face was noticed. From the age of 6 months he had fre-
quent generalized tonic-clonic convulsions. His development was slow: he sat unsupported a t the age of two years, walked with support a t three years, with a broad base and exorotated hips. At three years there was lack of any verbal achievement. His play was destructive; his behaviour was affectionate. Physical examination a t 3 I / z years showed normal somatic measurements: length was 91 cm, weight 14,7 kgm, head circumference 52 cm. The face was asymmetric with more fullness of the soft parts on the right side. In the centre of the face, extending from the right side of the forehead to the tip of the nose, there was a slightly elevated circumscribed linear dark yellowish lesion with a fine papillomatous granular surface. In front of the right ear, under the right eye, there was a similar looking oval lesion (3-4 cm in diameter) with a more patchy distribution. O n the upper and lower lip somewhat to the right side of the midline, a band-like lesion with the aspect of leukoplakia was present. There was an incisure in the left upper medial incisor (Fig. 1). Further examination of the skin and internal organs did not reveal any abnormalities. The eyes were normal except for some slight pigment dispersion in the fovea of the right eye. Neurological examination gave the following results. H e showed affectionate behaviour but was unable to speak and caught attention by screaming. Cranial nerve functions were normal. Motor function of the upper extremities was normal, including fine manipula-
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Organoid nevus syndrome
Fig, 2 The biopsy shows diffuse hyperkeratosis, follicular plugging, slight papillomatosis and acanthosis of the epidermis. The dermis contains partly immature hair-follicles and sebaceous glands, and there is fibrosis. H & E. Staining, 52 x
Fig. 3 Pneumoencephalography. AP view in brow up position, showing differences in shape and level of the lateral ventricles. Note that the contour of the calvarium on the right side is more rounded than on the left side
Fig. 4 Pneumoencephalography. Lateral exposure in brow down position. The highest arrow points to the triangular part of the right lateral ventricle. The picture falsely suggests an expanding lesion in the left parieto-occipital region
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Organoid nevus syndrome
tion. There was no clear dominant side. He was able to stand with support at the hips. Walking with support was broad-based and with exorotated hips. Muscle tone in the hips was low. Tendon reflexes were normal, Babinski reflexes were negative. Laboratory investigations
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The following examinations gave normal results: Morphological blood studies, liver- and kidney function tests,
levels of lactate and pyruvate in blood while fasting and after glucose loading, glycosaminoglycan-excretion and amino-acid excretion in the urine. In the CSF, cell count, total protein content, LDH, GOT and CPK were normal. The electroencephalogram showed generalized slowing with focal spikewave complexes over the posterior part of the right hemisphere. Visual evoked cortical responses were negative. Motor conduction tests of the ulnar and pero-
Fig. 5 AP tomography in brow up position showing the irregular outline of the right lateral ventricle. The interpeduncular cistern on the right side is larger than the left side. The basilar artery (arrow) has a normal appearance
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Fig. 6 Lateral tomography in brow up position of the frontal part of the right lateral ventricle. The arrows point to abnormal tissue masses projecting into the frontal horn of the right ventricle
neal nerve on the left side were within normal limits. Electr~retinograph~ gave normal results on both sides. A biopsy from the lesion on the nose showed diffuse hyperkeratosis, with follicular plugs and some irregular acanthosis of the epidermis. The dermis showed some fibrosis and several underdeveloped pilosebaceous complexes. The sebaceous glands did not show any sign of hypertrophy. The epidermal changes were consistent with a diagnosis of nevus verrucosus, the changes of epidermis and dermis were consistent with organoid nevus (Fig. 2). X-ray studies of the long bones, pelvis, and vertebral column did not reveal any abnormalities.
Lumbar pneumoencephalography The lateral ventricles were asymmetric in shape and position. The right lateral ventricle was located higher than the left one, moderately enlarged, with diminished impression of the caudate nucleus. Lateral tomography of the right lateral ventricle showed two tissue masses bulging into the frontal horn (Fig. 3 , 4 , 5 , 6 ) . Carotid angiography The course of the cerebral vessels clearly indicated that the right cerebral hemisphere was much larger than the left one. The right middle cerebral artery showed paucity of opercular and sylvian branches suggesting a developmental defect of opercularization (Fig. 798).
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Barth et al.
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Organoid nevus syndrome
Fig. 7 and 8 A P and lateral angiogram of the right internal carotid artery. Shift of the anterior cerebral artery toward the left side. The middle cerebral artery is situated too high and no insular or opercular branches can be seen
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Fig. 9 and 10 AP and lateral angiogram of the right internal carotid artery. Venous phase. The position of the superior sagittal sinus is asymmetric. The right cerebral hemisphere occupies about two thirds of the intracranial space. The deep veins show abnormal patterns (see text)
Fig. I I Lateral radiograph of the internal carotid angiography of the left side. Arrows point to the pseudo-avascular zone in the parieto-occipital region. On this side the opercular branches are well developed
The venous phase on the right side revealed the absence of the inferior sagittal sinus and the straight sinus. The deeper venous structures were emptying into veins that connected directly with the transverse sinus (Fig. 9,lO). The angiography of the left internal carotid artery showed normal vascular patterns (Fig. 11). Discussion The nevus
Mehregan and Pinkus (1965) described 150 organoid nevi without neurological involvement. Most of them were localized on the scalp. In the 22 more or less extensive descriptions on nevus sebaceus associated with neurological symptoms, there were variations in extent and distribution of the lesions. However, in all cases the lesions bordered the midline of the face. In 20 ca-
ses the distribution in the face was asymmetrical. Linear nevi of the same aspect on other parts of the body were present in 5 cases: Lansky et al. (1972), cases 1 and 2, Hornstein et al. (1974), Mollica et al. (1974), Wauschkuhn et al. (1971). It appears that in most cases where an organoid nevus exists there are no neurological symptoms. However, an organoid nevus bordering the midline of the face seems to be especially associated with neurological involvement. No cases have been described with overlapping symptoms of other neurocutaneous syndromes, e. g. tuberous sclerosis. Tuberous sclerosis was excluded in our case because the typical skin lesions, such as angiofibromata (Pringle lesions, adenoma sebaceum) of the face, subungual fibromata, shagreen plaques and white leaf spots were not present.
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Organoid nevus syndrome
I t should be emphasized that nevus sebaceus is not to be confused with the typical facial lesions of tuberous sclerosis, called adenoma sebaceum. Actually the name adenoma sebaceum is a misnomer, because the Pringle lesion of the face in M. Bourneville-Pringle is characterized by a hyperplasia of vascular connective tissue and not of sebaceous glands. The organoid nevus as described in our case and in others is not seen in association with M. Bourneville-Pringle. The eye symptoms Involvement of one or both eyes has been described 10 times among the 22 case descriptions cited above: Marden et al. (1966), Moynahan et al. (1967), Sugarman et al. (1969), Denk et al. (1971), Hornstein et al. (1974), Schimmelpenning (1957), Jancar (1970), Geissler (1966), Bitter (1971), Mollica et al. (1974). Lipodermoids of the conjunctivae, vascularisation of the corneae, microphthalmia, superior colobomata of the lids, the irides and chorioretinal layers have been described. The visceral organs Aortic coarctation was mentioned in the cases of Bitter (1971) and Marden et al. (1966). Renal abnormalities were described by Lansky et al. (1972) (Case 1) as congenital bilateral nodular nephroblastomatosis. Mollica et al. (1974) described horseshoe kidney and multiple dysplastic metanephric foci. I n the last case mentioned also a cystic biliary adenoma was found a t autopsy.
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Neurofidistrie
The skeletal system Osteoclastoma of the maxilla was noticed by Bitter (1971), ameloblastoma of the mandible by Lovejoy et al. (1973) Case 2. Patchy sclerotic areas of the calvarium on the side of the skin lesions were mentioned by Schimrnelpenning (1957). Extensive changes resembling osteomalacia were described by Sugarman ct al. (1967). The nervous system Epilepsy is the single neurological symptom mentioned most often. I n the 22 cases alluded to, epileptic phenomena were described in 18. Interestingly the EEG showed focal disturbances in 12 cases corresponding to the side of maximal skin involvement. A hypsarrhythmic pattern was described in 2 cases. O u r own case also showed focal electrocnccphalographic abnormalities corresponding to the side of the face predominantly involved. Mental retardation in different degrees was present in 14 cases. Sugarmarz et al. (1969) mention spastic quadriplegia. The case of Schimmelpennig (1957) showed hcmiparesis contralateral to the side of maximal skin involvement. Hemimacrocephaly also seems to be associated with this entity, since it is specifically mentioned in 4 cases: Marden and Venters (1966), M o ~ n a h a net al. (1967), Hornstein et al. (1974), Chalhub et al. (1975). I t may be, however, that in other cases less impressive differences in the volume of the hemispheres, failed to attract attention. The localization of the hemimacrocephaly corresponds to the side of the greatest
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Barth et al.
Organoid nevus syndrome
On rapporte d'un garSon d'ige de trois ans et demi, soufirant du syndrome de "naevus sebaceus linkair". Les indices cliniques ktaient: "naevus organoide linkair", comprenant caractkristiquement la ligne mkdiane de la face et s'ktendant au cStk droit, hkmimacrocephalie, retard psychomoteur, kpilepsie, provenant d'un foyer dans l'hkmisphkre droit, et selon les recher-
che~pneumoencephalographiques et angiographiques une malformation ressemblant un hamartome prokminant dans le ventricule latkral droit. References Bianchine, J. W.: The nevus sebaceous of Jadassohn. Am. J. Dis. Child. 120: 223228 (1970). Bitter, K.: Uber die Erstbeobachtung eines angeborenen Naevus Sebaceus im Trigeminusbereich mit Gehirnmii3bildungen und Riesenzellgeschwiilsten des Ober- und Unterkiefers. Dtsche Zahn-, Mund- und Kieferheilkunde 56, H 112, 17-24 (1971). Chalhub, E. G., Volpe, J. J. and Gado, M. H.: Linear nevus sebaceous syndrome associated with porencephaly and nonfunctioning major cerebral venous sinuses. Neurology 25: 857-859 (1975). Conner, A. E. and Bryan, H.: Nevus sebaceous of Jadassohn. Am. J. Dis. Child. 114: 626-630 (1967). Denk, R.: Schimmelpenning-Syndrom. Med. Welt 22, H. 16: 666-668 (1971). Feuerstein, R. C. and Mims, L. C.: Linear nevus sebaceus with convulsions and mental retardation. Am. J. Dis. Child. 104: 675679 (1962). Geissler, H.: Systematisierter Naevus sebaceus in Kombination mit epileptiformen Krampfanfallen (fragliche tuberose Hirnsklerose). Derm. Wschr. 152: 1291 (1966). Herbst, B. A. and Cohen, M. E.: Linear nevus sebaceus. A neurocutaneous syndrome associated with infantile spasms. Arch. Neurol. 24: 317-322 (1971). Hornstein, 0. P. and Knickenberg, M.: Zur Kenntnis des Schimmelpenning-FeuersteinMims-Syndroms (Organoide Naevus-Phacomatose). Arch. Derm. Forsch. 250: 33-50 (1974). Jadassohn, J.: Bemerkungen zur Histologic dcr systematisierten Naevi und uber ,,Talgdrusen-Naevi". Arch. Derm. Syph. 33: 355-394 (1895). Jancar, J., Naevus syringocystadenomatosus papilliferus with skull and brain lesions, hemiparesis, epilepsy and mental retardation. Brit. J. Derm. 82: 402-405 (1970).
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skin involvement. Pneumoencephalographic studies in 10 cases revealed asymmetric widening of the lateral ventricles with maximal extension on the side of predominant skin involvement in 6 cases. Generalized widening was found in 1 case. A normal ventricular system was found in 2 cases. In none of these 10 cases intraventricular masses have been described. The case of Chalhub et al. (1975) is interesting because to our knowledge it contains the only previous report of cerebral angiographic studies. Non-functioning major cerebral sinuses were found in that case. Detailed neuropathological investigation has not yet been reported in any case. In conclusion we believe that the present case adds to the wide spectrum of the disease the feature of a tumor-like cerebral malformation. The combined occurrence of hemimacrocephaly, unilateral ventricular widening and an epileptic focus, all corresponding to the side of the largest skin involvement, is a feature that our case shares with several other cases descri,bed in detail before.
12. Lansky, L. L., Funderburk, S., Cuppage, F. E., Schimke, N. and Diehl, A. M.: Linear sebaceous nevus syndrome. A hamartoma variant. Am. J. Dis. Child. 123: 587-590 (1972). 13. Lantis, S., Leyden, J., Thew, M. and Heaton, C.: Nevus sebaceus of Jadassohn. Part of a new neurocutaneous syndrome? Arch. Derm. 98: 117-123 (1968). 14. Lovejoy, F. H. and Boyle, W. E.: Linear nevus sebaceous syndrome: report of two cases and a review of the literature. Pediatrics 52: 382-387 (1973). 15. Marden, P. M. and Venters, H . D.: A new neurocutaneous syndrome. Am. J. Dis. Child. 112: 79-81 (1966). 16. Mehregan, A. H. and Pinkus, H.: Life history of organoid nevi. Arch. Derm. 91: 574-587 (1965). 17. Mollica, F., Pavone, L. and Nuciforo, G.: Linear sebaceous nevus syndrome in a newborn. Am. J. Dis. Child. 128: 868-870 (1974). 18. Monahan, R. H., Hill, C. W, and Venters, H . D.: Multiple choristomas, convulsions and mental retardation as a new neuro-
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I
Neuropidiatrie
cutaneous syndrome. Am. J. Ophth. 64: 529-532 (1967). Moynahan, E. J. and Wolff, 0. H.: A new neuro-cutaneous syndrome (skin, eye and brain) consisting of linear naevus, bilateral lipo-dermoid of the conjunctivae, cranial thickening, cerebral cortical atrophy and mental retardation. Brit. J. Derm. 79: 651-652 (1967). Schimmelpenning, G . W.: Klinischer Beitrag zur Symptomatologie der Phakomatosen. Fortschr. Rontgenstr. 87: 716-720 (1957). Solomon, L. M., Fretzin, D. F. and Dewald, R. L.: The epidermal nevus syndrome. Arch. Derm. 97: 273-285 (1968). Sugarman, G. I. and Reed, W. B.: Two unusual neurocutaneous disorders with facial cutaneous signs. Arch. Neurol. 21: 242-247 (1969). Wauschkuhn, J. and Rohde, B.: Systematisierte Talgdrusen-, Pigment- und epitheliale Naevi mit neurologischer Symptomatik. Feuerstein-Mimssches Neuroektodermales Syndrom. Der Hautarzt. 21, H . 1: 10-13 (1971).
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