{'fraction_non_alphanumeric': 0.036571428571428574, 'fraction_numerical': 0.013333333333333334, 'mean_word_length': 5.66497461928934, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: Comment on “A Syndrome of Immunodeficiency, Autoimmunity, and Spondylometaphyseal Dysplasia” by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006]

Spondyloenchondrodysplasia (SPENCD, OMIM 271550), first described in 1976 by Schorr and colleagues, is a rare genetic disorder with a specific radiographic appearance, which is due to the presence of radiolucent spondylar and metaphyseal lesions that represent persistence of islands of chondroid tissue within bone [Schorr et al., 1976]. In the Nosology of Genetic Skeletal Disorders, SPENCD is currently classified in the group of anomalies characterized by disorganized development of skeletal components, although there is no evidence of a proliferating nature of the lesions [Superti-Furga and Unger, 2007]. The typical radiographic features of SPENCD are (a) the presence of platyspondyly of variable degree, with irregularity of both upper and lower end plates, and of nodular lesions localized initially (or only) at the posterior third or half of the vertebral body; and (b) the presence of radiolucent, ‘‘punched-out,’’ rounded, or multilobulated non-ossifying lesions extending from the growth plate into the metaphysis and diaphysis. These lesions can be variable in severity and be present in the long bones only (typically, distal knee, proximal fibula, distal radius, and ulna), but can be seen also at other sites of endochondral growth such as the iliac crest. Recently, an international collaborative group has identified and published a review and series of patients suggesting that SPENCD may be a single entity defined by specific radiographic features, but with remarkably pleiotropic manifestations that include CNS disease (spasticity, mental retardation, and cerebral calcifications), as well as immune dysregulation ranging from autoimmunity to immunodeficiency, and with variable expression evenwithin sibs [Renella et al., 2006]. In a clinical case report published in this journal, Kulkarni and colleagues relate of a 5-year-old boy with short stature and spondylometaphyseal dysplasia, who had a history of recurrent infections, including tuberculosis. Systemic lupus erythematosus (SLE), autoimmune thrombocytopenia (AIT), and juvenile rheumatoid arthritis (JRA) were diagnosed, and laboratory investigations revealed compromised cellular immunity. The authors conclude that this patient is the first report of Roifman-Costa syndrome in the Indian subcontinent [Kulkarni et al., 2007]. In 2006, we had re-examined the clinical and