|Year : 2018 | Volume
| Issue : 3 | Page : 215-219
Cutaneous markers of spinal dysraphism: A cross sectional study
Farhana Tahseen Taj
Department of Dermatology, JNMC Medical College, KLE University, Belgaum, Karnataka, India
|Date of Web Publication||28-Jun-2018|
Dr. Farhana Tahseen Taj
Department of Dermatology, JNMC Medical College, KLE University, Belgaum - 590 010, Karnataka
Source of Support: None, Conflict of Interest: None
Background: Spinal dysraphism is a rare condition where there are many cutaneous markers which will help a dermatologist to arrive at early diagnosis and prevent complications. Aims and Objectives: The aim and objectives of this are to study the various cutaneous marker of spinal dysraphism in neonatal period and its importance of recognizing early to plan for further management. Materials and Methods: Neonates were examined for cutaneous signs of spinal dysraphism in the first 4 weeks of life. Both occult and open spinal dysraphism clinical features were recorded. Detail history was recorded with respect to age of the mother, parity, consanguinity, and folic acid supplementation. Diagnosis was made clinically. Biopsy is not done as it may introduce infection into spinal canal. Results: A total of 1000 neonates were examined, out of which cutaneous signs of spinal dysraphism were seen in 135 (13.5%) newborns. Sacral dimple was most common seen in 128 (12.8%) neonates, meningomyelocele in 5 (0.5%), dermoid cyst in 1 (0.1%) and acrochordons in 1 (0.1%) neonate. Conclusion: Dermatologist should be aware of the cutaneous marker of spinal dysraphism. Although dermatologist has a less role in the management of spinal dysraphism, their early diagnosis will help in the further management and prevent orthopedic, vertebral, and urological complications.
Keywords: Faun tail, meningomyelocele, spinal dysraphism
|How to cite this article:|
Taj FT. Cutaneous markers of spinal dysraphism: A cross sectional study. Indian J Paediatr Dermatol 2018;19:215-9
| Introduction|| |
Spinal dysraphism refers to a spectrum of congenital anomalies characterized by an incomplete fusion of the midline mesenchymal, bony, or neural elements of the spine. The incidence of spinal dysraphism is 2.4/1000 live births. In the Indian literature, the first report of Faun tail nevus as cutaneous marker of spinal dysraphism was reported by Basak et al. in 1989 and Dhar in 1994. The small, often, occult anomalies, such as tethered cord, may be asymptomatic until later in life. Cutaneous lesions may be the first clue to these underlying defects. Knowledge of these skin findings allows health-care provider to determine the necessity of further evaluation and imaging to rule out dysraphism.
The cutaneous markers that are most likely to signal the presence of underlying occult spinal dysraphism include hypertrichosis, large dimples, true or pseudo tails, lipomas, hemangiomas, absence of skin, and cystic or sinus tract lesions. They are typically found in the midline lumbosacral region but may be found anywhere along the vertebral column.
A combination of 2 or more congenital midline skin lesions is the strongest marker for occult spinal dysraphism. A thorough history and physical examination should be performed because it may provide valuable additional insight. A careful examination of the urogenital system and rectum may reveal abnormalities associated with incomplete closure. The entire vertebrae should be visualized and palpated. Three radiologic modalities are used for the preoperative diagnosis of dysraphism. The most sensitive study is magnetic resonance imaging. Sonography is an excellent, noninvasive alternative in infants <6 months of age. Computed tomography (CT) scanning may also be necessary, especially in the nasal region [Table 1].
| Materials and Methods|| |
Source of data
A 3-year hospital based, cross-sectional, and prospective study was conducted in the Department of Dermatology, Venereology and Leprosy, BLDE University, Shri B. M. Patil Medical College, Bijapur. One thousand neonates who delivered in the Department of Obstetrics and Gynaecology of the same institution were surveyed for the presence of cutaneous signs of spinal dysraphism.
Method of collection of data
Neonates within first 4 weeks of life irrespective of gestational age, sex, and mode of delivery were included in the study.
Neonates kept under neonatal intensive care unit were excluded from the study.
Detailed history was recorded, especially age of the mother, parity of mother, history of consanguinity, mode of delivery, and history of maternal illness during pregnancy. The neonates were examined thoroughly in daylight and findings were recorded. The sex, birth weight, and age at the time of examination were noted in each case. In all instances, diagnosis of disorder was based on clinical impression.
| Results|| |
Cutaneous signs of spinal dysraphism were seen in 135 (13.5%) newborns. As shown in [Table 2] and [Figure 1], sacral dimple was most common seen in 128 (12.8%) neonates, meningomyelocele in 5 (0.5%), dermoid cyst in 1 (0.1%), and acrochordons in 1 (0.1%) neonate.
The observations pertaining to parameters under study among the newborn babies are expressed in percentage.
Ethical clearance - The study was approved by the Ethical committee and Institutional Review Board.
| Discussion|| |
Spinal dysraphism results from defective closure of caudal neural tube at the end of 4 weeks of gestation. It results from maldevelopmemt of ectoderm, mesoderm, and neuroectodermal tissues. Spinal dysraphism is categorized into occult spinal dysraphism and open spinal dysraphism. Spina bifida occulta is a synonym used for spinal dysraphism; however, it results from defective fusion of posterior spinal bony elements. Word spinal dysraphism was coined by W B Leichenstein in 1940.
Spinal cord development can be categorized into three stages. First stage is gastrulation stage where there is formation of ectoderm, mesoderm, and endoderm. The second stage is neurulation stage (3–4 weeks) where in notochord and overlying ectoderm interact to form neural plate. The third stage is secondary neurulation stage (5–6 weeks), secondary neural tube is formed by caudal cell mass. Any defect in the process of development of spinal cord gives rise to spinal dysraphism (open/closed). Disorder of gastrulation leads to split spinal cord, spilt cord malformations diastematomyelia, diplomyelia. Disorder of primal neurulation leads to myelocele, myelomeningocele, dermal sinus tract, spinal lipoma, and lipomyelocele. Disorder of secondary neurulation leads to complex syndrome associated with hindgut and lower urinary tract anomalies. These syndromes are designated as vertebral anomalies, anal imperforation, tracheoesophageal fistula, renal/radial anomalies (VATER), omphalocele, clocal exstrophy, imperforate anus, and spinal anomalies (OEIS) syndrome.
Spinal dysraphism can be of four types (1) A simple incomplete fusion of the elements, for examples, spina bifida. (2) A failure of separation of germinal layer, for example, sacral dimple. (3) Abnormal growth of cell nests of one germinal layer remain among cells of another, for example, dermoid or epidermoid cyst. (4) Disturbance in the growth of normal tissue leading to the formation of intraspinal or intramedullary lesion, for example, lipoma.
In open spinal dysraphism, there is defect in overlying skin and the underlying neural tissues are exposed. In closed spinal dysraphism, the overlying skin is intact open spinal dysraphism includes myelomeningocele, myelocele, hemimyelomeningocele, and hemimyelocele. Closed spinal dysraphism is classified further based on the presence or absence of subcutaneous mass. Closed spinal dysraphism with subcutaneous mass are lipomas with dural defect such as lipomyeloceles, lipomyelomeningoceles, meningocele, terminal myelocystocele, and myelocystocele. Closed spinal dysraphism without subcutaneous mass are intradural lipomas, filar lipoma, tight filum terminale, persistent terminal ventricle, dermal sinus, dorsal enteric fistula, neuroenteric cyst, and diastematomyelia.
In this study, we examined the neonates at birth to detect the earliest sign of spinal dysraphism. The most common cutaneous sign seen was sacral dimple followed by meningomyelocele [Figure 2]. A newborn or early infancy with occult spinal dysraphism will have perfectly normal neurologic examination. At that time, the function of the spinal cord may not be impaired, but as the child grows, a dysraphic lesion will begin to have an effect, either by preventing the spinal cord from “ascending” within the vertebral canal or by pressure from the increasing size of some abnormal tissue such as a lipoma. This results in a gradual interference with conduction of spinal cord or its nerve roots, so that according to the site of the lesion; there will be a gradual loss of sensation and a slowly developing weakness of muscles.
In this study, cutaneous signs of spinal dysraphism were seen in 135 (13.5%) neonates. Sacral dimple was seen in 128 (12.8%) neonates. The prevalence is higher than that of American neonates (1.4%). However, further investigations were not done for the definitive diagnosis of spinal dysraphism. Meningomyelocele was seen in 5 (0.5%) neonates. None of these neonates showed any signs of neurological deficit except one neonate who was unable to move his limbs. However, it is considered that sacral dimple is a poor marker for spinal dysraphism. The most common site of spinal dysraphism is lumbosacral region (90%) followed by thoracic (6%–8%) and lumbar (2%–4%). The risk factors for spinal dysraphism include folic acid deficiency, low socioeconomic status, multiple pregnancies, maternal diabetes, and antiepileptics during pregnancy.
Many cutaneous lesions associated with occult spinal dysraphism have been reported. A combination of two or more congenital midline skin lesions constitutes the strongest marker of occult spinal dysraphism. Simple dimple defined as small dimple ≤5 mm in diameter ≤2.5 cm or closer to the anus and localized just above the gluteal furrows. Atypical dimple defined as large ≥5 mm high on back ≥2.5 cm from the anus. A few isolated lesions are clearly associated with occult spinal dysraphism: lipomas, dermal sinus, and faun tails. Sacral dimples alone are considered as poor marker of spinal dysraphism. Atypical dimples in combination with other lesion are a highly suspicious of occult spinal dysraphism.
In a study conducted by Bajpai et al., the most common cutaneous sign was lipoma followed by dermal sinus with the age group between 2 months to 7 years. In our study, the common cutaneous sign of occult spinal dysraphism was sacral dimple. In a study by Tavafoghi et al., cutaneous signs of occult spinal dysraphism was more common in females.
Cutaneous markers are reported to be present in 50%–80% of patients. Skin dimples are seen with a frequency ranging from 4% to 23%. Atypical dimples with other cutaneous lesions the possibility of spinal dysraphism raises to 40%. Dermal sinus tracts are often associated with dermoid or epidermoid cysts [Figure 3]. Large lesions may cause neurological defect. Aplasia cutis congenital is a scar-like defect over the spinal column and can be associated with other cutaneous markers.
A hairy patch can present as “silky down or faun tail [Figure 4].” Silky down is represented by tuft of hair with a texture of fine, soft nonterminal, or lanugo hair. A faun tail is rare and is a wide often triangular or lozenge-shaped patch of coarse hair. Mild hypertrichosis on the back, lumbar region is a common finding in some ethnic groups such as Middle Eastern countries [Figure 5]. Congenital lipomas are soft swelling consists of mass of adipose tissue, the overlying skin may be normal in appearance or may show dimpling, abnormal hair, or a vascular lesion. They may be associated with meningocele and lipomyelomeningocele. Intraspinal lipomas are a marker of tethered cord. Sacrroccocygeal teratoma [Figure 6] is the unusal manifestation of spinal dysraphism seen in our study.
Human tails are caudal appendages found in the sacrococcygeal and lumbar region. True tail (vestigial tails) or pseudotails are associated with spinal dysraphism. Vascular lesions such as sacral hemangioma larger than 4 cm overlying on the midline or with central scar-like lesion are associated with spinal dysraphism. Capillary malformations are usually not associated with spinal dysraphism.
Complications of spinal dysraphism include vertebral, orthopedic, neurological, and urological complications. In children with occult spinal dysraphism.,, The presence of following symptoms can suggest the presence of tethered cord syndrome (TCS). These include cutaneous lesions associated with occult spinal dysraphism (59%), neurogenic bladder (18%), lower extremity weakness, numbness or spasticity (12%), leg or foot discrepancy (6%), foot and spinal deformity, and nondermatomal leg/back pain (6%).
Significant cutaneous lesions can be seen in up to 3% of general population, in patients with ocular surface disease (OSD) the incidence approaches 80%. Urological complications include urinary incontinence, urinary urgency, increased urinary frequency, and recurrent urinary tract infections.
Orthopedic anomalies seen in 90% of patient with Tethered Cord Syndrome (TCS). Foot deformities, limb length discrepancy, gluteal asymmetry, kyphosis, or scoliosis seen in 25% of children.
Vertebral anomalies include bifid vertebra, laminar defects, hemivertebrae, and sacral agenesis/apasia. Neurological complications: upper and lower motor neuron loss, feet and perineal sensory loss, back and leg pain, delayed ambulation, and gait difficulty.
Syndromes associated with occult spinal dysraphism/TCS are the following. The incidence of OSD ranges from 15% with imperforate anus to 60% with vertebral anomalies, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal and limb anomalies (VACTERL) syndrome, OEIS syndrome, VATER syndrome, and Miller–Dieker syndrome-lissencephalic condition. An association between Chiari 1 malformation and TCS has been reported.
Investigations to diagnose spinal dysraphism require skill to detect skeletal and spinal abnormalities. Fetal ultrasound helps to detect spinal abnormalities, and even maternal serum alphafeto protein in a pregnant woman helps in detecting neural tube defects. It should be done by 12.22 and 32 weeks. Bone abnormalities can be detected by plain radiographs. Biopsy is hazardous because of introduction of infection into the spinal cord.
Ultrasonography can detect physiological movement of spinal cord and help to distinguish normal from pathological findings. The contents of spinal canal are best visualized by ultrasound in first 3 months of life. Ultrasound is ideal for infants because there is no need for radiation or sedation. It is also reported to have 96% sensitivity and 96% specificity. ultrasound is limited by operator abilities and often difficult to interpret. In addition, its use is restricted to infants 4–6 months old because spine ossification reduces the reliability of ultrasound findings. It can, however, function as a screening tool. If ultrasound results are normal in the setting of sacral dimples or isolated strawberry hemangioma, then the probability of TCS is relatively low and magnetic resonance imaging (MRI) studies can be postponed.
MRI helps in assessing occult spinal dysraphism. MRI enables the visualization of vertebral levels, conus position, presence of fat/thickening/syrinx. MRI also provides more information than myelography or CT in defining spinal cord anatomy. CT myelography is required for complex abnormalities.
The management of spinal dysraphism requires multidisciplinary approach with orthopedicians, neurologists, pediatrician, and urologists working together to prevent any future complications the child may have during his/her developmental phase. Removal of lesion associated with spinal dysraphism without a previous diagnostic evaluation is contraindicated. We as a dermatologist can help diagnose spinal dysraphism at an early stage by finding the cutaneous marker of spinal dysraphism [Table 1]. The early diagnosis will help for timely intervention before any complications has occurred. Prognosis of spinal dysraphism depends on specific pathology and clinical severity at the time of presentation.
| Conclusion|| |
Spinal dysraphism can be prevented by regular supplementation of folic acid during pregnancy. About 70%–80% of neural tube defects can be prevented by regular folic acid supplementation. Antenatal screenings can help in the early detection of open spinal dysraphism, but occult spinal dysraphism remains undetected until delivery.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
[Table 1], [Table 2]