Congenital dermal sinus

Last updated
Congenital dermal sinus
Other namesSpinal congenital dermal sinus
Szmyd Dermal sinus-tract and ISCA.png
The schematic representation of a dermal tract as a predisposing factor for intramedullary spinal cord abscesses. [1]

Congenital dermal sinus is an uncommon form of cranial or spinal dysraphism. [2] [3] It occurs in 1 in 2500 live births. [3] It occurs as a dermal indentation, found along the midline of the neuraxis and often presents alongside infection and neurological deficit. [2] Congenital dermal sinus form due to a focal failure of dysjunction between the cutaneous ectoderm and neuroectoderm during the third to eight week of gestation. [2] [3] [4] [5] Typically observed in the lumbar and lumbosacral region, congenital dermal sinus can occur from the nasion and occiput region down. [2] [3] [4]

Contents

Early diagnosis and treatment is crucial for cases of congenital dermal sinus. It ensures that neurological condition does not degrade and prevents infection. Diagnosis can be confirmed through the use of advanced neuroimaging to observe the tract and associated lesions.

Embryogenesis

During normal development, cutaneous ectoderm separates from neuroectoderm to allow for the insertion of mesoderm. [3] That is, the skin separates from the tissue of the spinal cord to allow proper formation of the vertebral column. [3] In cases of congenital dermal sinus there is a failure in this process, resulting in formation of a persistent connection between the skin and neural tissue. [3] This manifests as a tract extending from the surface of the skin to the spinal cord lined with stratified squamous epithelium, surrounded by dermal and neurological tissue. [3] [5] The tract may terminate in the deep fascia, or even make contact with neural elements. [2] Congenital dermal sinus may form at any point along the midline of the neuraxis, however, the majority form in the lumbar and lumbosacral region (41% and 35% of cases respectively). [3]

Diagnosis

Congenital dermal sinus is often diagnosed in infants and children. [2] Early diagnosis is important in congenital dermal sinus, so that treatment can be provided early, to prevent progression of associated complications. [2] [3] [4] [5]

Clinical features

There three key hallmarks of congenital dermal sinus: cutaneous abnormalities, infection, and neurological deficits.[ citation needed ]

Cutaneous abnormalities

Congenital dermal sinus is a tract from the surface layer of the skin, through the deeper tissues into the cranial or spinal cavity. [2] The skin findings of this tract can include:

Infection

The stratified squamous epithelium of the congenital dermal sinus tract can extend to the spinal fascia of the dura mater or all the way to the spinal cord. [4] [5] Thus, the congenital dermal sinus forms a point of entry for infection, this can allow for the formation of an abscess, especially among children. [6] [3] [5] Infection can then travel up the spinal cord to result in meningitis, which can be fatal if left untreated. [2] [5]

Neurological deficit

Congenital dermal sinus is often also associated with spinal fluid drainage, intradural cysts and spinal cord tethering; conveying neurological deficit. [4] Neurological deficit can occur due to spinal cord compression from intradural dermoid cyst growth in the epidermis and dermis. [4] Tethered spinal cord can result in gait difficulties and sphincter dysfunction, as well as compressing the spine. [5] Neurological deficits are more likely to occur where diagnosis has not been timely, allowing cysts and or infection. [3] [4]

Imaging

Magnetic Resonance Imaging (MRI) is the preferred tool for diagnostic and preoperative imaging of congenital dermal sinus. [2] [3] [4] [5] MRI allows the neural structures to be observed, visualizing the tract and its anomalies and lesions. [2] [3] [4] [5] For example, exposing tethered cord, inclusion tumors or spinal cord malformations. [3] Observation by X-ray is limited in diagnosis, especially due to immature calcification of infants less than 18 months. [5] X-ray may be used in conjunction with MRI or sonogram images to assist preoperatively. [3]

Treatment

Treatment of congenital dermal sinus involves complete resection of the tract as well as intradural exploration. [4] Prophylactic surgical removal of the congenital dermal sinus tract is beneficial for the patient, allowing neurological and bladder function to be maintained. [2] Early surgical intervention results decreases the risk of infection and/or tumour progression – factors typically associated with delayed presentation of congenital dermal sinus. [3] ] Intradural exploration is necessary as excision of the entire tract, as well as any of its intradural connections, reduces need for further surgical intervention. [4]

The surgical technique involves ‘removing the cutaneous lesion in ellipse’. [4] The tract of the congenital dermal sinus must then be explored and excised, with intradural lesions dissected. [4] If not all epithelial tissue is removed, there is a possibility for the dermoid cyst to reoccur and require further operation. [4] Further operations are limited by postoperative and post-infection scarring. [4]

History

Prior to pervasive use and availability of advanced methods of neuroimaging, it is possible that the rate of incidence of congenital dermal sinus has been supplemented by the incidence of coccygeal pits. [3] [4] Coccygeal pits are distinct from congenital dermal sinus as they are found within the gluteal cleft, rather than above the gluteal cleft. [3] [4] The caudally orientated coccygeal pits are not associated with intradural pathology and do not need to be excised, unlike the cephalically oriented tracts of the congenital dermal sinus which confer great intradural pathology and require surgical intervention. [3] [4] While coccygeal pits occur in 4% of neonate population, congenital dermal sinus is only found in 1 in 2500 live births. [3] [4]

Related Research Articles

<span class="mw-page-title-main">Brain abscess</span> Medical condition

Brain abscess is an abscess caused by inflammation and collection of infected material, coming from local or remote infectious sources, within the brain tissue. The infection may also be introduced through a skull fracture following a head trauma or surgical procedures. Brain abscess is usually associated with congenital heart disease in young children. It may occur at any age but is most frequent in the third decade of life.

<span class="mw-page-title-main">Transverse myelitis</span> Medical condition of the spinal cord

Transverse myelitis (TM) is a rare neurological condition in which the spinal cord is inflamed. Transverse implies that the inflammation extends horizontally across the spinal cord. Partial transverse myelitis and partial myelitis are terms sometimes used to specify inflammation that only affects part of the width of the spinal cord. TM is characterized by weakness and numbness of the limbs, deficits in sensation and motor skills, dysfunctional urethral and anal sphincter activities, and dysfunction of the autonomic nervous system that can lead to episodes of high blood pressure. Signs and symptoms vary according to the affected level of the spinal cord. The underlying cause of TM is unknown. The spinal cord inflammation seen in TM has been associated with various infections, immune system disorders, or damage to nerve fibres, by loss of myelin. As opposed to leukomyelitis which affects only the white matter, it affects the entire cross-section of the spinal cord. Decreased electrical conductivity in the nervous system can result.

<span class="mw-page-title-main">Fistula</span> Abnormal connection between two epithelialized surfaces, often organs

A fistula in anatomy is an abnormal connection between two hollow spaces, such as blood vessels, intestines, or other hollow organs. Types of fistula can be described by their location. Anal fistulas connect between the anal canal and the perianal skin. Anovaginal or rectovaginal fistulas occur when a hole develops between the anus or rectum and the vagina. Colovaginal fistulas occur between the colon and the vagina. Urinary tract fistulas are abnormal openings within the urinary tract or an abnormal connection between the urinary tract and another organ such as between the bladder and the uterus in a vesicouterine fistula, between the bladder and the vagina in a vesicovaginal fistula, and between the urethra and the vagina in urethrovaginal fistula. When occurring between two parts of the intestine, it is known as an enteroenteral fistula, between the small intestine and the skin as an enterocutaneous fistula, and between the colon and the skin as a colocutaneous fistula.

Myelitis is inflammation of the spinal cord which can disrupt the normal responses from the brain to the rest of the body, and from the rest of the body to the brain. Inflammation in the spinal cord, can cause the myelin and axon to be damaged resulting in symptoms such as paralysis and sensory loss. Myelitis is classified to several categories depending on the area or the cause of the lesion; however, any inflammatory attack on the spinal cord is often referred to as transverse myelitis.

<span class="mw-page-title-main">Pilonidal disease</span> Skin infection between the buttocks

Pilonidal disease is a type of skin infection which typically occurs as a cyst between the cheeks of the buttocks and often at the upper end. Symptoms may include pain, swelling, and redness. There may also be drainage of fluid, but rarely a fever.

Free-living amoebae in the Amoebozoa group are important causes of disease in humans and animals.

<span class="mw-page-title-main">Dermoid cyst</span> Medical condition

A dermoid cyst is a teratoma of a cystic nature that contains an array of developmentally mature, solid tissues. It frequently consists of skin, hair follicles, and sweat glands, while other commonly found components include clumps of long hair, pockets of sebum, blood, fat, bone, nail, teeth, eyes, cartilage, and thyroid tissue.

Spinal tumors are neoplasms located in either the vertebral column or the spinal cord. There are three main types of spinal tumors classified based on their location: extradural and intradural. Extradural tumors are located outside the dura mater lining and are most commonly metastatic. Intradural tumors are located inside the dura mater lining and are further subdivided into intramedullary and extramedullary tumors. Intradural-intramedullary tumors are located within the dura and spinal cord parenchyma, while intradural-extramedullary tumors are located within the dura but outside the spinal cord parenchyma. The most common presenting symptom of spinal tumors is nocturnal back pain. Other common symptoms include muscle weakness, sensory loss, and difficulty walking. Loss of bowel and bladder control may occur during the later stages of the disease.

An epidural abscess refers to a collection of pus and infectious material located in the epidural space superficial to the dura mater which surrounds the central nervous system. Due to its location adjacent to brain or spinal cord, epidural abscesses have the potential to cause weakness, pain, and paralysis.

An oral medicine or stomatology doctor has received additional specialized training and experience in the diagnosis and management of oral mucosal abnormalities including oral cancer, salivary gland disorders, temporomandibular disorders and facial pain, taste and smell disorders; and recognition of the oral manifestations of systemic and infectious diseases. It lies at the interface between medicine and dentistry. An oral medicine doctor is trained to diagnose and manage patients with disorders of the orofacial region, essentially as a "physician of the mouth."

A syrinx is a rare, fluid-filled neuroglial cavity within the spinal cord (syringomyelia), in the brain stem (syringobulbia), or in the nerves of the elbow, usually in a young age.

Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord. Various forms include tight filum terminale, lipomeningomyelocele, split cord malformations (diastematomyelia), occult, dermal sinus tracts, and dermoids. All forms involve the pulling of the spinal cord at the base of the spinal canal, literally a tethered cord. The spinal cord normally hangs loose in the canal, free to move up and down with growth, and with bending and stretching. A tethered cord, however, is held taut at the end or at some point in the spinal canal. In children, a tethered cord can force the spinal cord to stretch as they grow. In adults the spinal cord stretches in the course of normal activity, usually leading to progressive spinal cord damage if untreated. TCS is often associated with the closure of a spina bifida. It can be congenital, such as in tight filum terminale, or the result of injury later in life.

<span class="mw-page-title-main">Branchial cleft cyst</span> Medical condition

A branchial cleft cyst is a cyst as a swelling in the upper part of neck anterior to sternocleidomastoid. It can, but does not necessarily, have an opening to the skin surface, called a fistula. The cause is usually a developmental abnormality arising in the early prenatal period, typically failure of obliteration of the second, third, and fourth branchial cleft, i.e. failure of fusion of the second branchial arches and epicardial ridge in lower part of the neck. Branchial cleft cysts account for almost 20% of neck masses in children. Less commonly, the cysts can develop from the first, third, or fourth clefts, and their location and the location of associated fistulas differs accordingly.

Diastematomyelia is a congenital disorder in which a part of the spinal cord is split, usually at the level of the upper lumbar vertebra in the longitudinal (sagittal) direction. Females are affected much more commonly than males. This condition occurs in the presence of an osseous, cartilaginous or fibrous septum in the central portion of the spinal canal which then produces a complete or incomplete sagittal division of the spinal cord into two hemicords. When the split does not reunite distally to the spur, the condition is referred to as diplomyelia, which is true duplication of the spinal cord.

<span class="mw-page-title-main">Preauricular sinus and cyst</span> Medical condition

Preauricular sinuses and preauricular cysts are two common congenital malformations. Each involves the external ear. The difference between them is that a cyst does not connect with the skin, but a sinus does. Frequency of preauricular sinus differs depending the population: 0.1–0.9% in the US, 0.9% in the UK, and 4–10% in Asia and parts of Africa.

<span class="mw-page-title-main">Bonnet–Dechaume–Blanc syndrome</span> Medical condition

Bonnet–Dechaume–Blanc syndrome, also known as Wyburn-Mason syndrome, is a rare congenital disorder characterized by arteriovenous malformations of the brain, retina or facial nevi. The syndrome has a number of possible symptoms and can, more rarely, affect the skin, bones, kidneys, muscles, and gastrointestinal tract. When the syndrome affects the brain, people can experience severe headaches, seizures, acute stroke, meningism, and progressive neurological deficits due to acute or chronic ischaemia caused by arteriovenous shunting.

<span class="mw-page-title-main">Tarlov cyst</span> Medical condition

Tarlov cysts, are type II innervated meningeal cysts, cerebrospinal-fluid-filled (CSF) sacs most frequently located in the spinal canal of the sacral region of the spinal cord (S1–S5) and much less often in the cervical, thoracic or lumbar spine. They can be distinguished from other meningeal cysts by their nerve-fiber-filled walls. Tarlov cysts are defined as cysts formed within the nerve-root sheath at the dorsal root ganglion. The etiology of these cysts is not well understood; some current theories explaining this phenomenon have not yet been tested or challenged but include increased pressure in CSF, filling of congenital cysts with one-way valves, inflammation in response to trauma and disease. They are named for American neurosurgeon Isadore Tarlov, who described them in 1938.

Anaerobic infections are caused by anaerobic bacteria. Obligately anaerobic bacteria do not grow on solid media in room air ; facultatively anaerobic bacteria can grow in the presence or absence of air. Microaerophilic bacteria do not grow at all aerobically or grow poorly, but grow better under 10% carbon dioxide or anaerobically. Anaerobic bacteria can be divided into strict anaerobes that can not grow in the presence of more than 0.5% oxygen and moderate anaerobic bacteria that are able of growing between 2 and 8% oxygen. Anaerobic bacteria usually do not possess catalase, but some can generate superoxide dismutase which protects them from oxygen.

A lipomyelomeningocele is a type of closed neural tube defect that affects around 3 to 6 babies out of 100,000 births. It is an example of a spinal lipoma, which is a collection of adipose tissue, or fat, that is located at or around the spinal cord. Essentially, it is a tumor of fat located on the spinal cord. A lipomyelomeningocele defect is present at birth and can present with physical defect of the spine and back, and it can also cause various neurological symptoms such as weakness and bladder and bowel incontinence. The general treatment for this spinal defect is surgical detachment of the lipoma from the spine.

References

  1. ↑ Szmyd, B; Jabbar, R; Lusa, W; Karuga, FF; Pawelczyk, A; Blaszczyk, M; Jankowski, J; Solek, J; Wysiadecki, G; Tubbs, R.S.; Iwanaga, J; Radek, M (2022). "What Is Currently Known about Intramedullary Spinal Cord Abscess among Children? A Concise Review". Journal of Clinical Medicine. 11 (15): 4549. doi: 10.3390/jcm11154549 . PMC   9369492 . PMID   35956164.
  2. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 Wang, YM; Chuang, MJ; Cheng, MH (September 2011). "Infected spinal dermal sinus tract with meningitis: a case report" (PDF). Acta Neurologica Taiwanica. 20 (3): 188–91. PMID   22009122.
  3. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 Ackerman, LL; Menezes, AH (September 2003). "Spinal congenital dermal sinuses: a 30-year experience". Pediatrics. 112 (3 Pt 1): 641–7. doi:10.1542/peds.112.3.641. PMID   12949296.
  4. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 Elton, S; Oakes, JW (January 2001). "Dermal sinus tracts of the spine". Neurosurgical Focus. 10 (1): e4. doi: 10.3171/foc.2001.10.1.5 . PMID   16749756.
  5. 1 2 3 4 5 6 7 8 9 10 Jindal, A; Mahapatra, AK (September 2001). "Spinal congenital dermal sinus: an experience of 23 cases over 7 years". Neurology India. 49 (3): 243–6. PMID   11593240.
  6. ↑ Szmyd, B; Jabbar, R; Lusa, W; Karuga, FF; Pawelczyk, A; Blaszczyk, M; Jankowski, J; Solek, J; Wysiadecki, G; Tubbs, R.S.; Iwanaga, J; Radek, M (2022). "What Is Currently Known about Intramedullary Spinal Cord Abscess among Children? A Concise Review". Journal of Clinical Medicine. 11 (15): 4549. doi: 10.3390/jcm11154549 . PMC   9369492 . PMID   35956164.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.