Congenital Dermal Sinus Research Articles

Isolated intramedullary cervical dermoid cyst

A 65-year-old male was admitted because of 2-month history of left arm weakness. Spinal MRI showed a cervical intramedullary lesion whose features suggested a dermoid cyst (Fig. 1 a, b). No spinal dysraphisms were evident. At operation (under neurophysiological monitoring), after a C2–C5 laminotomy, dural opening and myelotomy, the lesion appeared composed of two components: cranially the cyst was filled with caseous yellowish and pearly material which was removed; caudally the lesion presented calcified material which was only partially removed because it was very adherent to the surrounding neural tissue (Fig. 1 c, d). Post-operative course was characterized by worsening of left arm weakness and onset of moderate weakness of legs. Histological examination confirmed the presence of keratin debris and bone suggesting a diagnosis of dermoid cyst. Intramedullary dermoid cysts are extremely rare, accounting for less than 1 % of intramedullary spinal cord tumors [1]. They arise from cell remnants due to a failure of embryological process involved in the neural tube closure [1]. This process begins in the area of the neural tube destined to become the lower cervical cord and proceeds rostrally and caudally [1]. Hence these cysts are more often located in the lumbosacral spine. As the result of an embryological defect, they are usually associated with spinal dysraphism or dermal sinus tracts and thus are commonly seen during the first decade of life [1, 2]. Although some cases of isolated cervical dermoid cyst have previously been reported, most of them were published in pre-MRI era [1]. Dermoid cysts can be differentiated from intrinsic glial tumors of the cord on the basis of heterogeneity of the T1or T2-weighted signal, lack of contrast enhancement, and signal characteristics consistent with lipid content [1]. To our knowledge only two papers reported detailed description of MRI and intraoperative features of isolated cervical dermoid cysts [1, 2]. Both cases came to surgery because patients were symptomatic. Odgen et al. [1] report on a case of a 23-year-old man with a 3-month history of symptoms consistent with myelopathy, including hand weakness and paresthesias and an unsteady gait. Patankar et al. [2] describe the case of an 18-year-old female with a gradual appearance of spastic tetraparesis. In these two cases, at operation, the cyst wall was found to be very adherent to the adjacent neural tissue and only a subtotal resection was performed to avoid spinal cord damage [1, 2], as in our case. Nonetheless the morbidity remains high even with subtotal resection, with two patients (Pantakar et al. [2], and present case) worsened after the operation. Considering the benign nature of these congenital lesions and the significant risks related with the operation a conservative management should be considered for asymptomatic patients. F. Signorelli (&) N. Montano A. Scerrati B. Cioni F. Papacci Institute of Neurosurgery, Catholic University, Largo Agostino Gemelli 8, 00168 Rome, Italy e-mail: francesco.signorelli1984@gmail.com

Cervical dermal sinus complicated with intramedullary abscess in a child: case report and review of literature

Dermal sinus tract (DST) is an uncommon spinal dysraphism presenting in childhood along the midline neuroaxis. Cervical DST less frequent is in association with intramedullary abscess. A 9-month-old baby was admitted to our unit suffering from right hemiparesis. Physical examination showed a cervical midline cutaneous fistula dripping a yellowish thick liquid. Cervical MRI showed at C5 level a sinus tract in continuity with a C3-C6 intramedullary lesion. Total removal of the fistula and the intramedullary lesion was performed. Histopathological examination confirmed the diagnosis of dermal sinus and abscess. Post-operative cervical MRI showed a complete removal of the spinal dysraphism, fistula, and intramedullary abscess. The baby showed a progressive clinical improvement and was discharged on day 10 post-surgery. Literature review confirms that an early diagnosis followed by prompt surgical spinal cord decompression gives a functional neurological recovery.

A rare case of split pons with double encephalocoele, dermal sinus tract, and lipomeningomyelocele: a case report and review of literature

Multiple neural tube defects and pontine anomalies are relatively rare. Cases of split pons and double encephalocoeles in combination with other spinal anomalies are even rarer. Here, we present a very rare case of split pons, twin encephalocoeles (one of which was atretic), lumbar dermal sinus tract, lumbosacral lipomeningomyelocele, thickened filum, and syringomyelia that was managed successfully at our institute. Cases of split pons and double encephalocoeles in combination with other spinal anomalies are very rare, and to the best of author's knowledge, this is the first case report of these multiple anomalies in world literature.

Dermoid cysts of the posterior fossa – morbid associations of a benign lesion

Dermoid cysts of posterior fossa are uncommon benign lesions. They differ from other lesions found in the infra tentorial compartment by virtue of their associated conditions. Due to their association with dermal sinus tracts, intracranial infection is a potential threat following infection of the cyst. Due to their embryologic origin, these cysts may also be associated with other congenital anomalies. In this article we detail our eleven-year-experience with posterior fossa dermoid cysts in fifteen patients. Despite the morbid presentation with severe life-threatening complications, the overall outcome was excellent. Implications of the various associations are discussed.

Brain and spinal manifestations of Miller-Dieker syndrome

A 6-month-old infant with LIS1 17p13.3 deletion-positive Miller-Dieker syndrome (MDS) presented with increased seizures in the setting of a Pseudomonal and Enterococcal urinary tract infection and a buttock abscess associated with a lumbosacral dermal sinus tract. MRI of the neuraxis revealed lissencephaly (figure 1), a tethered cord without lipoma or other mass (figure 2A), and an infected lumbosacral dermal sinus tract. Communication with the spinal canal could not be appreciated (figure 2B). The dermal sinus was explored and found not to extend into the spinal canal. This tract was excised and the lateral abscess drained. Tethered cord release is planned upon resolution of infection.

Fatal Streptococcus melleri Meningitis Complicating Missed Infected Intramedullary Dermoid Cyst Secondary to Dermal Sinus in a Saudi Child

A spinal intramedullary abscess secondary to an infected dermoid cyst is rare, and it has a poor prognosis, unless diagnosed and treated promptly. We report a 12-month-old patient with a spinal intramedullary abscess with secondary to a dermoid cyst resulting from a dermal sinus, despite a clearly defined opening at the lower back with discharge of a purulent material from a dermal sinus tract seen on the lower back before the patient had become symptomatic and showed meningeal signs. The patient was managed as a case of meningitis until he had complications that endangered his life, and then further radiological evaluation was done to delineate the underlying pathology. This case illustrates the importance of the recognition and evaluation of skin markers because of the potential for intradural extension and a frequent association with other dysraphic abnormalities. It also emphasizes the importance of early diagnosis and treatment of spinal intramedullary abscess.

Acute flaccid paralysis in a patient with sacral dimple.

Sacral dimples are the most common cutaneous anomaly detected during neonatal spinal examination. Congenital dermal sinus tract, a rare type of spinal dysraphism, occurs along the midline neuraxis from occiput down to the sacral region. It is often diagnosed in the presence of a sacral dimple together with skin signs, local infection, meningitis, abscess, or abnormal neurological examination. We report a case of acute flaccid paralysis with sensory level in a 4 mo old female infant with sacral dimple, diagnosed by magnetic resonance imaging to be a paraspinal subdural abscess. Surgical exploration revealed a congenital dermal sinus tract extending from the subdural abscess down to the sacral dimple and open to the exterior with a minute opening.

Congenital dermal sinus in mid-dorsal spine with large intramedullary dermoid cyst in an 18-months-old child

Intramedullary dermoid cyst is a rare entity. It is usually associated with spinal dysraphism and dermal sinus. Our case is an 18-months-old female child who presented with history of fever and mild difficulty in moving left leg. She had a sinus in mid dorsal spine since birth with history of intermittent discharge from it. On magnetic resonance imaging of spine she was diagnosed to have large intramedullary epidermoid/dermoid cyst in the D2-7 vertebral level with a sinus tract. A dermoid cyst along with the sinus tract was excised. Post-operative follow up period was uneventful with full recovery.

Midline Spinal Cord Hamartomas—A Report of Six Cases

Midline Spinal Cord Hamartomas are relatively rare and asymptomatic. These lesions may present with a tethered cord and a normal overlying skin, a skin dimple, a dermal sinus tract or dense collagen. Most patients have few or no neurological symptoms related to them. Microscopically they are composed of mature and well-differentiated ectodermal and mesodermal elements, meningothelial cells, calcification, and even urothelium. We report MRI and histologic features of midline spinal cord hamartomas in six cases.

A 3D Ultrasound Study of Sinus Tract Formation in Hidradenitis Suppurativa

Imaging of hidradenitis suppurativa allows the study of both the lesion morphology and evolution. Hidradenitis lesions of different stages were studied using 3D ultrasound in a cross sectional pilot study. A total of 25 HS patients (18 female/ 7 male, aged 18-46 year-old) and 10 healthy controls (5 female/5 male, aged 21-49 year-old) were studied. All patients were referred by dermatologists. All examinations were performed on the right axilla and compared with both controls and the skin outside the lesional areas. 3D ultrasound images demonstrated enlargement of the deepest portion of the hair follicles in early stages. In more advanced stages dermal and subcutaneous sinus tracts were identified that were commonly connected to the base of the regional hair follicles. At the end stage of the disease, these sinus tracts were further dilated and multiple. Ultrasound allows early detection and characterization of the morphological changes in hidradenitis, which include the variable degrees of involvement of the hair follicles and the appearance of fluid collections and sinus tracts. Knowledge of this anatomical information may allow the identification of lesions that can benefit from medical or surgical management.

Diffusion-Weighted Magnetic Resonance Imaging of an Intramedullary Epidermoid Cyst with Dorsal Dermal Sinus Tract in a Toddler

We report the use of diffusion-weighted magnetic resonance imaging to diagnose and manage a rare case of a symptomatic thoracic intramedullary congenital epidermoid cyst with associated dermal sinus in a girl. Congenital intramedullary epidermoid cysts with associated dermal sinuses are very rare occurrences and seldom present symptomatically in very young children. We present a case of a 32-month old with a draining dimpled skin lesion. Magnetic resonance images demonstrated an intramedullary epidermoid with a dorsal dermal sinus tract opening to the skin surface which was confirmed surgically. The patient was treated with debulking to prevent recurrent infection and progression of neurological symptoms. This case demonstrates the use of diffuse-weighted MRI to assist in the diagnosis and surgical management of an atypical presentation of a rare developmental abnormality, which is not well documented in the pediatric radiological literature. Failure to diagnosis may have significant neurological permanent debilitating consequences.

Coexistence of dermal sinus tract, dermoid cyst, and encephalocele in a patient presenting with nasal cellulitis

Dermoid cysts, encephaloceles, and dermal sinus tracts represent abnormalities that develop during the process of embryogenesis. The elucidation of the precise timing of formation for these malformations has remained elusive at the molecular level of study. Yet, clinical experience has demonstrated that these malformations do not all occur in the same patient, suggesting a shared pathway that goes awry at distinct points for different patients, resulting in 1 of the 3 malformations. Herein the authors describe a case in which all 3 malformations were present in a single patient. This is the first description in the English literature of a sincipital encephalocele occurring with a dermoid cyst and a dermal sinus tract.

Unusual presentation of congenital dermal sinus: tethered spinal cord with intradural epidermoid and dual paramedian cutaneous ostia

The authors present the first report of spinal congenital dermal sinus with paramedian dual ostia leading to 2 intradural epidermoid cysts. This 7-year-old girl had a history of recurrent left paramedian lumbosacral subcutaneous abscesses, with no chemical or pyogenic meningitis. Admission MRI studies demonstrated bilateral lumbar dermal sinus tracts and a tethered spinal cord. At surgery to release the tethered spinal cord the authors encountered paramedian dermal sinus tracts with dual ostia, as well as 2 intradural epidermoid cysts that were not readily apparent on MRI studies. Congenital dermal sinus should be considered in the differential diagnosis of lumbar subcutaneous abscesses, even if the neurocutaneous signatures are located off the midline.

Introduction: Neural tube defects

This volume of Neurosurgical Focus covers an array of topics useful to many specialists who care for patients with neural tube defects and related abnormalities. These patients have specific needs at each stage of the lifespan. Today, many individuals with significant developmental abnormalities of the spinal cord are leading full lives. For example, it is important for obstetricians and anesthesiologists to be cognizant of the underlying abnormalities associated with a lipomyelomeningocele or myelomeningocele to optimally care for a woman with one of these lesions during the delivery of her child. These lesions are exceedingly interesting from a developmental perspective, and a better understanding of the pathophysiology will continue to improve our management. The paper by Kalani et al. focuses primarily on the pathophysiology of intradural spinal teratomas. Dr. Vogel and associates describe recent advances in our understanding of how primary cilia contribute to the pathogenesis of neural tube defects and hydrocephalus. Dr. Sarris and colleagues provide a useful review of the pathology, treatment, and outcomes of lipomyelomeningoceles. A review of the management of urologic dysfunction in patients with neural tube defects by Amarante and colleagues will be useful to providers from a wide range of specialties. Maintaining optimal urologic health is a challenge throughout life. Finally, Dr. Cox and colleagues describe an unusual presentation of bilateral paramedian cutaneous dermal sinus tracts that caused multiple episodes of infection prior to definitive neurosurgical treatment. (http://thejns.org/doi/abs/10.3171/2012.8.FOCUS12285)

Midface swelling reveals nasofrontal dermal sinus

Nasofrontal dermal sinuses are very rare and generally occur in children. This congenital malformation can be revealed by midface swelling, which can be complicated by local infection or neuromeningitis. Such complications make the dermal sinus a life-threatening disease. Two cases of nasofrontal dermal sinuses are reported in this work. The first case is an 11-month-old girl who presented with left orbitonasal soft tissue swelling accompanied by inflammation. Physical examination found fever, left orbitonasal thickening, and a puncture hole letting out pus. Computed tomography revealed microabscesses located at the left orbitonasal soft tissues, a frontal bone defect, and an intracranial cyst. Magnetic resonance imaging showed the transosseous tract between the glabella and the brain and affirmed the epidermoid nature of the intracranial cyst. The second case is a 7-year-old girl who presented with a nasofrontal non-progressive mass that intermittently secreted a yellow liquid through an external orifice located at the glabella. MRI revealed a cystic mass located in the deep layer of the glabellar skin related to an epidermoid cyst with a nasofrontal dermal sinus tract. In both cases, surgical excision was performed, and pathological confirmation was made for the diagnoses of dermal sinuses. The postoperative course was favorable. Through these cases, the authors stress the role of imaging methods in confirming the diagnosis and looking for associated cysts (dermoid and epidermoid) to improve recognition of this rare disease. Knowledge of the typical clinical presentations, imaging manifestations, and most common sites of occurrence of this malformation are needed to formulate a differential diagnosis.

RETRACTED ARTICLE: Congenital Dermal Sinus with Triple Ostia: An Unusual Presentation

RETRACTED ARTICLE: Congenital Dermal Sinus with Triple Ostia: An Unusual Presentation

Infected dermoid tumor causing tethered cord after myelomeningocele repair

Intramedulary dermoid tumors are rare tumors mostly found associated with dermal sinus tracts. Spinal dermoid tumor can occur after myelomeningocele repair. Infected dermoid tumors are reported in patients with dermal sinus tracts as well, but have never been reported subsequent to myelomeningocele surgery. Here, we report a rare association of infected dermoid tumor with tethered cord without dermal sinus tract in a child who had been operated for myelomeningocele during infancy.

Nasal dermoid cyst with intracranial extension and an atretic dermal sinus tract

Nasofrontal masses belong to the group of congenital midface anomalies (CMFA) in paediatric age group. Nasofrontal dermoids with patent dermal sinus tract is a rare anomaly resulting from the failure of normal embryogenic process. Most patients present in infancy or early childhood. CT and MRI together are usually required for definitive diagnosis. CT imaging provides vital information about the osseous involvement while MRI is crucial for evaluation of the intracranial extent and detailed tissue characterization. Knowledge of embryonic development is important in understanding the pathologies of nasofrontal masses in paediatric age group.

Recurrent meningitis due to epidermoid

Aseptic meningitis is characterized by noninfective serous inflammation of the meninges. It can occur in a recurrent fashion when associated with dermoid and epidermoid cysts due to rupture of cyst contents into subarachnoid space resulting in aseptic chemical meningitis. Bacterial meningitis in association with these tumors is commonly related to a coexisting dermal sinus tract and the most common organism is Staphylococcus aureus.

Multiple branchial cleft anomalies in conjunction with a congenital dermal fistula of the lower extremity: First report of the Guarisco–Winters syndrome

Branchial cleft anomalies are congenital remnants of the embryologic branchial clefts persisting past the embryo stage. Most occur singly and sporadically, though syndromic associations are described. Multiple branchial cleft anomalies coincident in the same patient are exceptionally rare, and rarer still are peripheral dermal sinus tracts on the extremities, with one prior documented case. We report the first case of multiple branchial cleft anomalies with a peripheral dermal sinus of the ipsilateral lower extremity. Numerous concurrent congenital anomalies exist in the patient, representing the first description of the Guarisco–Winters syndrome. The patient is intellectually and developmentally age-appropriate in all other regards.