Original Paper Eur Neurol 1992:32:260-263 M. Nagayamaa Y. Shinoharaa T. Takcokaa M. Haidaa A. Ikedah 1. Yamamolob O. Satob Departments of Neurology and Neurosurgery, Tokai University. School of Medicine, Isehara. Kanagawa. Japan Key Words Dermoid Steatocystoma multiplex Hemifacial spasm Magnetic resonance imaging Intracranial Paramedian Hourglass-Shaped Dermoid Associated with Hereditary Steatocystoma multiplex Abstract This is the first report to describe the coexistence of two rare diseases, intracra­ nial paramedian hourglass-shaped dermoid and steatocystoma multiplex. A 46-year-old female with a history of steatocystoma multiplex, bradydactylies and kyphosis showed oscillopsia. ataxia and hemifacial spasm. MRI findings suggested a giant dermoid cyst extending from the left middle temporal fossa to the cerebellopontine angle, and this was confirmed surgically. We propose the involvement of some genetic factor or pathological process common to both disorders, steatocystoma multiplex and dermoid. From the clinical point of view, patients with cystic skin lesion should also be checked for intracranial lesion. Neurocutaneous syndrome includes heterogeneous disorders linked only by the common property of involve­ ments of the skin and nervous system, both of which are of ectodermal origin [1-3]. The purpose of this communi­ cation is to report the first patient with intracranial para­ median hourglass-shaped giant dermoid associated with steatocystoma multiplex, a rare retention cyst of the follic­ ular and sebaceous system, and to propose a possible common etiology for these two disorders. Patient Report Received: April 24. 1991 Accepted: August 28. 1991 Fig. 1. Multiple subcutaneous cystic masses (arrows), confirmed histopathologically as steatocystoma multiplex. M. Nagayama, MD Department o f Neurology Tokai University. School o f Medicine Isehara. Kanagawa 259-11 (Japan) © 1992 S. Karger AG. Basel 0 0 14-3022/92/0325-0260 $2.75/0 Downloaded by: Vanderbilt University Library 129.59.95.115 - 1/13/2019 11:48:06 PM A 46-year-old female had noted a subcutaneous mass at her but­ tocks at first in her 30s. Thereafter, the masses gradually spread over the whole body, but she did not seek medical advice until 1986 at the age of 46, when she noted clumsiness of the left upper extremity, oscillopsia. dizziness, and numbness of the left cheek. She was referred lo our hospital in January 1987. Her history included sur­ gery for flexion contracture of right toe and hypertension. Her mother had the same subcutaneous lesions. Intermarriage was not noted. Physical findings were as follows. Height 160 cm. weight 51 kg. pulse 74/min and blood pressure 144/80 mm Hg. Multiple subcu­ taneous cystic masses were observed over the whole body, especially at both upper extremities. The masses were approximately 5-20 mm in diameter (fig. I). Bradydactylies and kyphosis of the spine were also noted. Neurologically. consciousness, mental state and speech were normal. Papilledema was present bilaterally. Saccadic eye movements and Bruns-Cushing nystagmus with fine rapid move­ ments to the right were observed. Paresthesia at the territory of the ophthalmic branch of the trigeminal nerve, decreased corneal reflex, lower eyelid spasm, and hearing loss were noted on the left. Gag reflexes were decreased bilaterally. Motor and sensors' systems were otherwise normal. Reflexes were normal except for positive snout reflex. Cerebellar signs were observed in the left side. Romberg’s sign was negative. Meningeal signs were also absent. Laboratory data were normal except for iron deficiency anemia. Chromosomal exam­ ination was normal. Skull X-P showed deformed bilateral internal acoustic meatus and osteolytic changes of the sphenoid sinus and of the left petrosal bone. Computed tomography (CT) (fig. 2) disclosed a paramedian hourglass-shaped giant cystic mass, extending from the left middle temporal fossa to the left cerebellopontine angle, associated with destruction of the petrous apex as shown on the left side of fig­ ure 2A. C. Linear marginal enhancement was also apparent. Mag­ netic resonance imaging(MRI) (fig. 3) showed the known giant cystic mass. The Tl weighted images (TR/TE 400/25 ms) in sagittal view disclosed the anterior part of the mass to be oflow intensity, and the posterior part of high intensity, with an irregularly shaped boundary. So it was suspected that the posterior part of the mass consisted of short TI material such as fat tissue. Angiography (left CAG and right VAG) documented the presence of a hypovascular mass suggesting extramedullary location. From these findings, the intracranial mass was considered as epi­ dermoid or dermoid. In April 1987 a surgical procedure was per­ formed. Some hair was observed in the tumor macroscopically. and microscopic findings showed that the tumor capsule consisted of ker­ atin. and the cystic fluid contained cellular keratin debris. On the basis of these pathological findings we diagnosed this as dermoid. A A B 400. 25 c Fig. 2. Plain CT showed a paramedian hourglass-shaped giant cystic mass (B, D). associated with bony destruction (A, C). 2000, 60 D Fig. 3. A -D MRI. Tl weighted images (TR 400 ms, TE 25 ms) showed the anterior part of the mass to consist of long Tl material such as water, and the posterior part of short T 1 material such as fat. 261 Downloaded by: Vanderbilt University Library 129.59.95.115 - 1/13/2019 11:48:06 PM B Microscopic examination of the subcutaneous cystic mass indi­ cated steatocystoma multiplex (fig. 4). because sebaceous glands were observed in the follicular epithelial wall which surrounded the cystic cavity. Discussion The following three clinical features of the dermoid in this patient are noteworthy. First, it is giant in size, para­ median in location and hourglass-shaped. Although rare cases of paramedian hourglass epidermoid have been reported [4-6], there is no report concerning paramedian hourglass dermoid as far as we know. The second feature is the discrepancy between CT and MRI findings. Though CT images suggested the entirely cystic nature of the mass, the MRI indicated that the mass was composed of at least two heterogeneous components. MRI showed that the anterior part of the mass consisted of long T1 material such as water, and the posterior part consisted of short T 1 material such as fat. From these findings we tentatively assumed this mass to be dermoid or epidermoid preoperatively. As is well known, the contents of dermoid consist of a mixture of lipid (low density in CT), keratin and its debris (iso-density), secreted materials from the capsule and so on. So the ability of MRI to discriminate the heter­ ogeneity of dermoid is a great advantage, especially in cases with high lipid content, in which CT shows only a diffuse low density region [7], The third feature is the pre­ sentation of hemifacial spasm. Although cases of intra­ 262 Nagayama/Shinohara/Takcoka/Haida/ Ikeda/Y amamoto/Sato Intracranial Dermoid and Steatocystoma multiplex Downloaded by: Vanderbilt University Library 129.59.95.115 - 1/13/2019 11:48:06 PM Fig. 4. Microscopic finding of the subcutaneous mass. Sebaceous gland in the follicular epithelial wall, which surrounds the cavity, provides the diagnosis of steatocystoma multiplex. H-E. X 360. cranial epidermoid with hemifacial spasm have been reported [8-14], we could not find this association for dermoid in the literature. The hemifacial spasm in this patient may be due to extra-axial compression of the facial nerve roots by the tumor. On the other hand, steatocystoma multiplex is a very rare retention cyst of the follicular and sebaceous systems, often inherited as an autosomal dominant trait, and char­ acterized by numerous intradermal cysts scattered over the whole body [1-3. 15]. The cystic wall is composed of stratified squamous epithelium, and the presence of seba­ ceous glands in the wall is crucial. The contents are com­ posed of pure lipid including cholesterol. The lipid con­ tents are fairly saturated, approximately half-way be­ tween blood lipid and depot fat. Hairs may also be found in the contents. Two main theories of the pathogenesis have been proposed [16]. The retention theory is that obstruction of the sebaceous excretion duct due to keratinization causes dilation and cystic formation of the pilosebaceous junction. The other theory is that, because of the coexistence of hairs, hair follicles, sebaceous and eccrine glands, the tumor is pluripotential in nature, and is a kind of dermoid tumor or hamartoma histopathologically. In our case, the clinical and histopathological findings, including family history, were characteristic of this dis­ ease. The most important point was whether the associa­ tion of the two diseases observed in this patient is coinci­ dental. Both disorders are congenital epithelial tumors, and dermoid contains hairs, hair follicles, sebaceous glands and eccrine glands, as does steatocystoma multi­ plex. Therefore pathological findings of both disorders are quite similar. So we would like to propose the involve­ ment of some genetic factor or pathological process com­ mon to both disorders. From the clinical point of view, clinicians should take care to examine whether patients may have intracranial lesion as well as cystic skin lesion. References 6 Ogawa T. Sekino H. Fuse T. Nakamura N: Multiple intracranial epidermoids located in the brain stem and the middle cranial fossa. Neurol Med Chir (Tokyo) 1985:25:393-397. 7 Horowitz BE. Chari MV. James R. Bryan RN: MR of intracranial epidermoid tumors: Corre­ lation of in vivo imaging with in vitro l3C spec­ troscopy. AJNR 1990:11:299-302. 8 Auger R, Piepgras D: Hemifacial spasm associ­ ated with epidermoid tumors of the cerebello­ pontine angle. Neurology 1989:39:577-580. 9 Otsuka S. Nakatsu S. Matsumoto S. Sato S. Motozaki T. Ban S. Yamamoto T, Shirane H: Epidermoid tumor presenting with trigeminal neuralgia and ipsilateral hemifacial spasm: A case report. Arch Jpn Chir 1989:58:245-249. 10 Sprik C. Wirtschafter JD: Hemifacial spasm due to intracranial tumor: An international survey of botulinum toxin investigators. Oph­ thalmology 1988:95:1042-1045. 11 Miyazaki S. Ftikushima T: CP angle epider­ moid presenting as hemifacial spasm. No To Shinkei 1983:35:951-955. 12 Liebaldt GP. Hcnn R: Vergleichende klinisch­ anatomische Gesichtspunkte beim 'spasmus facialis’ bei einem Fall von Epidermoid der hinteren Schädelgrube. Dtsch Z Nervenheilk 1970:197:149-162. 13 Arseni C, Petrovici I: Persistent tonic facial spasm in brain stem tumors. J Neurol Sei 1968: 7:107-114. 14 Revilla AG: Differential diagnosis of tumors at the cerebellopontine recess. Bull Johns Hopk Hosp 1948;83:187-212. 15 Ormsby OS, Finnerud C'W: Steatocystoma multiplex. Arch Dermatol Syphilol 1930:22: 822-827. 16 Kligrran AM, Kirschbaum JD: Steatocystoma multiplex: A dermoid tumor. J Invst Dermatol 1964:42:383-387. 263 Downloaded by: Vanderbilt University Library 129.59.95.115 - 1/13/2019 11:48:06 PM 1 Adam RD: Neurocutaneous diseases: in Fitz­ patrick TB. Eisen A. Wolff K. Freedbcrg 1M, Austen KF (eds): Dermatology in General Medicine. New York. McGraw'-Hill. 1987. pp 2022-2025. 2 Mackic RM: Tumors of the skin: in Rook A. Wilkinson DS, Ebling FJG. Champion RH (eds): Textbook of Dermatology, ed. 4. 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