Cutaneous stigmata of spine dr jason
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The document discusses cutaneous stigmata that can indicate underlying spinal dysraphism. Embryological errors between 2-6 weeks can result in open or occult spinal dysraphism. Various cutaneous findings are described, including subcutaneous masses, myelomeningoceles, hypertrichosis, dermal sinus tracts, vascular lesions, dimples, and gluteal cleft deviations. Imaging like ultrasound and MRI can help evaluate any associated spinal abnormalities. While not all skin findings carry the same risk, multiple stigmata increase the likelihood of underlying occult spinal dysraphism. Surgical intervention may be needed if neurological or urological symptoms appear.
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Cutaneous stigmata of spine dr jason
- 1. CUTANEOUS STIGMATA OF SPINE PRESENTER: DR JASON DSOUZA MODERATOR: DR PREETHAM TAURO
- 2. OUTLINE • Introduction • Embryology • Clinical manifestations • Classification • Evaluation • Cutaneous manifestations • Radiological work up • Summary
- 3. INTRODUCTION • Spectrum of congenital spinal anomalies involving skin, posterior spinal elements and underlying neuronal tissue • Open spinal dysraphism (myelomeningocoele): Exposed Spinal Cord at skin level • Occult spinal dysraphism (OSD): Skin covered • Tethering of spinal cord: Intermittent tension produced on conus /tip of spinal cord due to its abnormal attachments
- 4. INTRODUCTION CONT. • Infant with a dorsal appendage associated with a midline , soft tissue lipoma nearly all patients will have an associated lipomyelomeningocele • Healthy newborn with a dimple overlying the coccyx –much less risk of underlying tethered spinal cord • 4.8% patients with no midline cutaneous markers have been found to have underlying tethered spinal cord
- 5. EMBRYOLOGY • Errors in embryonic development between gestational weeks 2 to 6 Stages classified as : • 1) Disorders of Gastrulation(Weeks 2-3) • 2) Disorders of Primary Neurulation(Weeks 3-4) • 3) Disorders of Secondary Neurulation or Regression (Weeks 5-6) • Embryonic Origin: Ectodermal plate (skin and underlying nervous system)
- 7. EMBRYOLOGY CONT. Defect in Gastrulation divided as: • Disorders of Notochord Formation : Caudal regression syndrome, Segmental spinal dysgenesis • Disorders of Notochord Integration : Neurenteric cyst and dorsal enteric fistula as well as diastematomyelia or split cord malformation
- 9. EMBRYOLOGY CONT. Disorders of Primary Neurulation: Occurs between 3 to 4 weeks of gestational age Divided as : • Premature Dysjunction : Lipomyelomeningocoele, Lipomyelocoele and Intradural lipoma • Nondysjunction : Dorsal dermal sinus tracts , Meningocoele manque and Myelomeningocoele (or open spina bifida)
- 11. EMBRYOLOGY CONT. Disorders of Secondary Neurulation: • During gestational weeks of 5 to 6 weeks • Disorders consist of Tethered cord syndrome, Persistent terminal ventricle, Fatty filum and Intrasacral/Anterior sacral meningocele
- 13. TYPES OF SPINAL DYSRAPHISM APPEARANCE TYPE OF DYSRAPHISM Presence of midline mass/not covered with skin Myelocele Myelomenigocele Presence of midline mass /covered with skin Lipomyelomeningocele Meningocele Myelocystocele No midline mass present Anterior sacral meningocele Caudal regression syndrome Diastematomyelia Dorsal dermal sinus Hydromyelia Intradural lipoma Tight filum Terminale
- 14. CLINICAL MANIFESTATIONS • Pain : Back pain, Claudicating leg pain • Musculoskeletal Asymmetry: Scoliosis, Asymmetric Foot /leg deformity • Neurologic signs/symptoms : • Weakness, to include regression of motor mile stones • Sensory loss • Autonomic dysfunction: Delayed/regression of toilet training, recurrent UTI, Urgency
- 15. EVALUATION • Part of routine newborn screening • 50-80 % of patients evaluated for cutaneous stigmata are found to have underlying OSD • Pathologic spinal anomalies can be observed along the neuroaxis from the Nasion or occiput to the sacral region
- 18. 1) SUBCUTANEOUS MASS (SKIN TAGS, APPENDAGES AND LIPOMYELOMENINGOCOELE ) Midline, Lumbosacral region Embryonic tail (Debatable) Presence of these markers highly correlate with underlying spinal dysraphism; in most cases they occur along with other skin manifestations Lipomyelomeningocoele :18.8% of OSD Spinal Lipomas : 5 % of spinal cord tumors (compared to other cutaneous stigmata dorsal lipomas are more associated with underlying OSD or tethered spinal cord)
- 20. 2) MYELOCYSTOCELE(MCC) • 4-8% of occult dysraphism • Fluid filled, skin covered sac, lumbosacral region (rarely thoracic and cervical ) • Terminal MCC and Lipomyelomeningocoele : Same embryonic origin of skin covered spina bifidas with varying degrees of lipomatous tissue • Originally described as skin covered spina bifida,with arachnoid lined meningocele continuous with spinal subarachnoid space and terminal cyst bulging into the extraarachnoid compartment caudal to meningocoele
- 22. 3) HYPERTRICHOSIS(HT) • Prominent patch of hair, midline, variable in size ,texture, colour pattern and location • Physiological lumbosacral HT: African ,Asian and hispanic patients • Pathological HT: Diffuse in nature ,V shaped , may be associated with faun tail nevus
- 23. 4) DERMAL SINUS TRACT
- 24. 4) DERMAL SINUS TRACT • 1 in 2500 live births • Midline pit above the gluteal cleft and advances in the soft tissues in a cephalad direction towards underlying neuronal structures • Can present with Transient drainage , Infection and meningitis (Unique) • Spinal MRI • Neurosurgeons recommend surgical excision of all dermal sinus tracts as imaging may not detect the full intraspinal extension
- 26. 5) MENINGOCELE MANQUE • Aka Cigarette Burn • Lumbar midline , localized or widespread absence of skin and subcutaneous tissue • Clinically appears a solitary ulcer or erosion to a glistening thin membrane at birth in lumbosacral region • Aberrant tissue consisting of fibrous tissue ,abnormal pacinian corpuscles or peripheral nerves, adipose tissue, blood vessels, epidermal cells, cartilage/bone, smooth muscle, CNS tissue and dermal/epidermal cysts attaching the spinal cord to the overlying dura , soft tissue or skin
- 27. 6) MIDLINE CUTANEOUS VASCULAR LESIONS
- 28. 6) MIDLINE CUTANEOUS VASCULAR LESIONS • Range of physiologic and pathologic findings interchangeably used for Port wine stain, Salmon patch, strawberry nevus, vascular nevus, cutaneous angioma and a flat capillary lumbosacral hemangioma • A recent study by Guggisberg found that the most significant correlation with OSD was a spinal midline vascular abnormality in conjunction with another cutaneous stigmata
- 29. 7) LUMBO SACRAL DIMPLES
- 30. 7) LUMBO SACRAL DIMPLES AND COCCYGEAL DIMPLES (PIT) • aka Sacral dimples; It’s a Whorl of skin that tracts to the coccyx • Most common minor malformations ; 4.6% in general population and upto 45% of evaluation for SD • Size ,location in relation to anus, depth of the pit, concurrent presentation with other cutaneous lesions and neurologic, urologic or orthopedic abnormalities and the presence or absence of the dimples have been the factors to be considered in determining OSD • Large dimples with atypical appearance ranging greater than 25mm away from the anus are most likely associated with underlying pathology
- 31. 8) GLUTEAL CLEFT DEVIATION
- 32. 8) GLUTEAL CLEFT DEVIATION • Minimal physiologic asymmetry to significant deviation with associated asymmetric glutes • Among the patients undergoing screening for OSD , upto 8% had asymmetric gluteal cleft deviation and 7% presented with Y shaped gluteal cleft • Unclear about the significance of an isolated deviated gluteal crease
- 33. RADIOGRAPHIC IMAGING WORKUP • Plain Radiograph (screening) prominent Bony spinal abnormalities • Ultrasound - Early visualisation of soft tissue abnormalities; younger than 6 months • CT : Bony abnormalities with significant limitations(soft tissue or neuronal structures);alleviated by using intrathecal injection of contrast agents (Diastematomyelia) • Spinal MRI: Sensitive and specific; minimal risk of radiation, details of soft tissue extent and neuronal structure involvement; Cons : High cost , Expertise, Patient cooperation ,Sedation
- 35. ULTRASOUND
- 36. SPINAL MRI
- 37. THERAPEUTIC OPTIONS • Goal of surgical interventions is to safely release the spinal cord from tethering elements and workup to evaluate neurologic, orthopedic and /or urologic symptoms • Lower exteremity strength testing : orthopedic evaluation for musculoskeletal deformity and abnormal tone • Urologist consult for bowel and bladder function (cystometrogram and ultrasound) • Pediatric neurosurgeon : For pain and neurologic compromise of function • Controversy exists regarding surgical management for asymptomatic patients and long term follow up is recommended
- 38. SUMMARY • Skin stigmata occur early in embryogenesis and a midline lumbosacral region is associated with Spinal dysraphism • Not all cutaneous findings have the same likelihood of being associated with underlying OSD but studies done have shown increased risk of OSD in children with more than one cutaneous stigmata • Long term neurologic follow up recommended • Lesions farther away from the gluteal crease are more likely to be pathologic in nature compared to those over coccyx • Younger child –screening spinal ultrasound • Those with lower clinical suspicion with negative USG ---long term follow up is recommended • MRI is the gold standard
- 40. THANK YOU
Editor's Notes
- SD refers to ….. Grossly we have two types ……..open sd …Occurs when the underlying spinal cord ….through a bifid spinal column Important to know differnt forms of OSD ,because these present with different skin stigmata and can produce a variety of neurologic, orthopedic and /or urologic symptoms as a result of tethering spinal cord . This intermittent tension results in abnormalities in metabolism, eventually resulting in neuronal dysfunction
- There is a variable risk of tethering of spinal cord with different skin manifestations of spinal abnormalities; For most patients skin and soft tissue is the only clinical abnormality noted
- Understanding the embryology of cutaneous abnormality helps in understanding the pathology behind it These abN in develp of SC may be classified based on their embryonic origin and timing in development……. Most children with SD present with some form of Cutaneous manifestations as the skin and the underlying nervous system both originate in the embryonic ectodermal plate
- Gastrulation is a process in which bilaminar(epiblast and hypoblast) embryonic disc is converted to a trilaminar disk(giving rise to mesoblast and notochord)
- Notochord signals the overlying ectoderm to form the neural plate—as the ectoderm folds and edges meet causes closure of the neural tube;NT forms the primitive brain and spinalcord upto S2 level. The dysjunction implicates premature release of neuroectoderm from superficial ectoderm hence giving mesoderm(Future Lipoma) access to the Neural tube
- In secondary neurulation,the caudal pluripotent cell mass forms a solid medullary cord ,which cavitates by retrograde dedifferentiation process (poorly understood) forming the Cnus medullaris, filum terminale ,distal sacrum and coccyx
- TYPES of Spinal Dysraphism grossly divided as those with midline spinal soft tissue mass versus those without a visible mass Defects without an associated spinal mass ….
- Wide range of symptomatology associated with SD may present in isolation or in combination depending on pathology In cases of fatty filum or tethered cord the presentation can be completely asymptomatic while in cases of more Complex SD they can present with gross musculoskeletal deformities of spinal axis or neurologic …. (lower extremities ,paralysis, urinary and fecal incontinence , recurrent uti and spinal infections and pain.
- Cutaneous manifestation of OSD is well known and …. …….with increased frequency as one descends the spinal column into the lumbosacral region
- Large lipomatous mass with an appendage ,in addition s/c vascular lesion on overlying skin,asymmetry in gluteal crease B) Lipomatous mass in LS region with an overlying dimple and abnormal gluteal crease and skin changes C) Lipomatous lumbar region mass (rfferd as “tail” arising from inferior aspect of mass) Some investigators refer to it as embryonic tail although debabtable, they consider Dorsal appendage as a distal remnant of the embryonic tail containing adipose ,connective,muscle and nerve tissue representing a superficial resemblance to vestigial tail while some researchers opine that true tail is likely a cutaneous marker of spinal dysraphism with spinal cord tethering and not remnants of an embryonic human tail D and E) AP and Lateral view of LS lipmatous mass with ddeviation of Glut crease
- Lipomas commonly attach to spinal cord or tether the cord after entering through the bifid lamina Lipomas without bony involvement are considered dysembryogenetic lesions(
- This patients here has a myelocystocoele comprising cystic outpouching ; cystic component demonstrated by transillumination Fluid filled, skin covered sac, lumbosacral region (rarely thoracic and cervical )
- HT has a wide range of presenation,not all hair patches are associated with SD Physiologic HT need to be differentiated from pathologic Prominent HT of the lumbar spine,presentinga s thick dark hair over midline and extending laterally ina symmetrical manner
- HT highly associated with underlying split cord spinal dysraphism or diastematomyelia
- DST presents in a variable fashion however cutaneous findings are common; present as midline pit above gluteal cleft Fig And B shows a prominent infected DST with
- These lesions not only tether the spinal cord but also cause bacteria to enter the CNS therefore increasing risk of meningitis and tethering; therefore all infants harborbing a dermal sinus tract should undergo a spinal MRI
- similar to DST , but have localized or widespread absence of skin and subcutaneous tissue;Aka Cigarrette burn Threfore these can be subtle or prominent findings based on whether superficial layers or s/c tissue involved (A) Cutaneous aplasia of the lumbar region with associated patch of hair inferior to the lesion. (B) A small region of cutaneous aplasia, hypertrichosis, vascular cutaneous lesion, and gluteal cleft deviation (C) Another demonstration of cutaneous aplasia without significant other skin stigmata.
- interestingly tethering bands don't contain meningeal tissue highly associated with spinal dysraphism or tethered cord
- A ,b shows the variability in vascular LS cutaneous findings
- considered as a broad category for a range of physiologic ……. some investigators have noted a low correlation between cutaneous hemangiomas and OSD while others have noted hemangioma of infancy in lumbosacral region indicates spinal dysraphism….
- one of the most controversial areas in neurosurgery Pits although seem benign in nature they can be a sign of dangerous underlying lesions (A) Prominent lumbosacral dimple within the gluteal crease, (B) A sacral pit with surrounding hemangioma. this lesion is a whorl of skin tracking upto cocyx (at times it may look like its higher up overlying the sacrum but with skin manipulation its very apparent over coccyx)
- Coccygeal dimples are the most common …… in one study patients with dimples at 15mm above the coccyx correlated with presence of OSD
- Contains a spectrum of definition ranging from….
- No clear guidelines for radiological assessment of cutaneous stigmata however consensus exists on utilization of different modalities plain radiographs , ultrasound ,CT as well as MRI for further evaluation Ultrasound - Early visualisation of soft tissue abnormalities and to some degree bony abnormalities ……. utility is more in patients younger than 6 months CT : another modality with regard to bony abnormalities with significant limitations regarding soft tissue or neuronal structures ; some of these limitations can be overcome with use of intrathecal injection of contrast agents as in myelogram(mostly used in Diastematomyelia in diagnostic as well as surgical planning phase )
- Ultrasound image showing sagittal view of bony vertebral body shadows ,conus medullaris (red straight arrow) and a fatty filum terminale (slanted arrow); B) Axial view of fatty filum
- Mri is the gold standard in assessment of SD findings Lipomyelomeningocoele Myelocystocoele & D) Dermal sinus tract E & F) Fatty Filum G & H) diastematomyelia (split cord deformity ,2 cords separated by a bony spur)
- Algorithm in choosing the appropriate radiographic study in SD