A Prospective Study of Cutaneous Manifestations of Spinal Dysraphism from India

Abstract

Recognition of cutaneous markers of spinal dysraphism is important to prevent the morbidity associated with underlying spinal anomalies. To investigate the frequency and type of cutaneous stigmata in different forms of spinal dysraphism and to assess the role of ultrasonography and/or magnetic resonance imaging in diagnosing spinal dysraphism at two pediatric dermatology tertiary care centers. Over a 4-year period, all pediatric patients presenting to the dermatology clinic with dorsal midline cutaneous stigmata were evaluated clinically and with imaging studies (radiography, ultrasonographic examination and magnetic resonance imaging/Doppler). Surgical interventions were planned in conjunction with neurosurgery and orthopedic specialists. On examination, 245 (4.2%) had 285 cutaneous stigmata. Of the 180 patients evaluated with radiography, ultrasonographic examination and magnetic resonance imaging, 50 patients (28%) had spinal dysraphism (with 64 cutaneous stigmata). The most common stigmata associated with occult spinal dysraphism were lipoma (10) and dimples (12) and in open spinal dysraphism lipomeningomyelocoele (10) and meningomyelocoele (10). Statistically, lipomeningomyelocoele/myelomeningocoele, atypical dimples and port-wine stains were most associated with spinal dysraphism (p < 0.001). In 80 children less than 6 months of age, radiography with ultrasonographic examination revealed an SD in 16, while magnetic resonance imaging was diagnostic in four cases. Ultrasonographic examination performed fairly well in children less than 6 months and in cases of flat cutaneous stigmata it missed only 5% of cases, but in cases with bulky overlying masses (lipoma, hemangioma) it missed 15% of cases.

Cutaneous vascular lesions and their management in Indian setting

“…Sardana et al. from India, reported spinal dysraphism in all nine patients with PWS present over the dorsal midline region . Isolated PWS is not considered as a marker for occult spinal dysraphism and is a more specific indicator when associated with other midline lumbosacral cutaneous lesions .…”

“…Hemangiomas overlying the lumbosacral spine may be a marker for spinal dysraphism or may be associated with genitourinary abnormalities like imperforate anus, skeletal, and renal anomalies. Sardana et al found spinal dysraphism in four of five cases of hemangioma over the dorsal spine, and therefore MRI spine is advocated to look for underlying tethered cord or lipomeningocele (21). Hypothyroidism resulting from high levels of the enzyme 3-iodo thyronine deiodinase involved in the deactivation of thyroid hormone has been reported with large cutaneous or hepatic hemangiomas (22).…”

“…Facial PWS are associated with ocular and neurological abnormalities in 8-15% of cases, whereas PWS overlying lumbosacral region and nape of neck may indicate an underlying spinal dysraphism. Sardana et al from India, reported spinal dysraphism in all nine patients with PWS present over the dorsal midline region (21). Isolated PWS is not considered as a marker for occult spinal dysraphism and is a more specific indicator when associated with other midline lumbosacral cutaneous lesions (52,53).…”

Neural Tube Dysraphism: Review of Cutaneous Markers and Imaging

“…Cutaneous stigmata are found in 4.2% to 7.2% of all neonates. Although these cutaneous stigmata are frequently found in patients with CSD, the positive predictive value of these stigmata for the presence of CSD cannot be known without adequate large‐scale prospective studies . However, it is well accepted that a combination of two or more cutaneous stigmata has a high predictive value, and some stigmata have a higher risk than others (Fig.…”

“…In addition, there should be a high level of suspicion when cutaneous stigmata occur in combination with anogenital malformations or manifestations consistent with TCS. The common cutaneous stigmata are listed below and are categorized into proposed risk categories based on available data (Table ) .…”