Scheuermann's disease: an update.

Scheuermann's disease is a juvenile osteochondrosis of the spine. It is a disease of the growth cartilage endplate, probably due to repetitive strain on the growth cartilage weakened by a genetic background. The radiographic aspects are related to the vertebral endplate lesions and include vertebral wedging, irregularity of the vertebral endplate, and Schmorl's node (intraossous disk herniation). Disc alterations are frequent and may be secondary to dysfunction of the disc-vertebra complex. The definitions of Scheuermann's disease are varied; it can refer to the classical form of juvenile kyphosis, described by Scheuermann as well as asymptomatic radiographic abnormalities. Lumbar involvement is probably as frequent as the thoracic form and might be more painful. The first-line treatment is medical and includes rehabilitation and bracing. The earlier the start of treatment, the better the outcome, which highlights the importance of early diagnosis. Surgery is uncommon and must be limited to severe involvement after failure of conservative treatment. The natural history of Scheuermann's disease is unknown, but it might be associated with increased risk of back pain. The evolution of thoracolumbar and lumbar disease is unknown.

The mode of inheritance of Scheuermann's disease.

The mode of Scheuermann's disease inheritance and its phenotypic traits in probands and their relatives were studied in 90 pedigrees (90 probands and 385 relatives). The disorder was identified as a genetically related pathology inherited by autosomal dominant type, controlled by a mutant major gene, as a kyphotic deformity without signs of vertebral bodies' anomaly and torsion. Morphological and biochemical studies showed disturbance in the structure of vertebral growth plate anterior aspects at the level of deformity, defects in proliferation and differentiation of chondrocytes, and change in proteoglycan spectrum in cells and matrix. Twelve candidate genes were studied in chondrocytes isolated from vertebral growth plates of patients with Scheuermann's disease. The study results included disorder in the IHH gene expression and preservation of the expression of PAX1, two aggrecan isoforms, link protein, types I and II collagen, lumican, versican, growth hormone and growth factor receptor genes, and proliferation gene. Preservation of the SOX9 gene (transcription gene) probably indicates posttranscriptional genetic disorders. The study is under way.

Genetic epidemiology of Scheuermann's disease.

BACKGROUND AND PURPOSE: The genetic/environmental etiology of Scheuermann's disease is unclear. We estimated the heritability of the disease using an etiological model adjusted for sex and time of diagnosis, and examined whether the prevalence of Scheuermann's disease was constant over time. METHODS: 46,418 twins were sent a questionnaire about health and disease. Of these, 75% returned the questionnaire and 97% answered the question "Have you been diagnosed as having Scheuermann's disease by a doctor?" RESULTS: Responders included 11,436 complete pairs of twins. Data were analysed using classical twin modeling methods. Tetrachoric correlations were used to decide which etiological model to fit. The best-fitting model was the AE model. Heritability was 0.74 (95% CI: 0.65-0.81), while variance explained by environmental factors was 0.26 (95% CI: 0.19-0.35). A threshold of 2.1 (95% CI: 1.9-2.2) was calculated, corresponding to a prevalence of 1.9% (95% CI: 1.3-2.8) for women. Regression coefficients for age and sex were 0.000 (95% CI: -0.003 to 0.002) and -0.32 (95% CI: -0.42 to -0.23). INTERPRETATION: We found a heritability of 0.74 in Scheuermann's disease. The threshold in men was lower than in women, corresponding to a male prevalence that was almost twice that of females. We found no change in the prevalence of Scheuermann's disease throughout the 50-year age span that we examined.

Scheuermann's Kyphosis: an update.

A review of the current literature demonstrates considerable debate regarding the pathogenesis, natural history and treatment of Scheuermann's kyphosis. Most of the views and recommendations provided in various reports are weakly supported by levels of evidence. In addition, prospective studies using validated questionnaire instruments and long-term follow-ups to assess clinical outcomes in patients treated conservatively or surgically versus those untreated that would document the natural history of the condition are still unavailable. This systematic review summarizes the current knowledge on Scheuermann's kyphosis and attempts to present a rational approach in the evaluation and management of this group of patients.

Prevalence, concordance, and heritability of Scheuermann kyphosis based on a study of twins.

BACKGROUND: The purpose of this study was to establish a cohort of symptomatic twins with Scheuermann kyphosis to provide estimates of prevalence, concordance, odds ratio, and heritability. These estimates indicate to what extent genetic factors contribute to the etiology of this disease. METHODS: The Odense-based Danish Twin Registry is unique in that it contains data on all 73,000 twin pairs born in Denmark over the last 130 years. For the present study, all 46,418 twins born from 1931 through 1982 received a seventeen-page questionnaire, in which one question was "Have you been diagnosed with Scheuermann disease by a doctor"? The prevalence of self-reported Scheuermann disease was calculated, with the total number of answers used as the general population. Pairwise and probandwise concordance, odds ratio, tetrachoric correlations, and heritability were calculated. RESULTS: We found that the overall prevalence of Scheuermann disease was 2.8%, with a prevalence of 2.1% among women and 3.6% among men (p < 0.0001). The pairwise concordance for monozygotic twins was 0.19 compared with 0.07 for dizygotic twins. The probandwise concordance was 0.31 for monozygotic twins and 0.13 for dizygotic twins. The odds ratios were 32.92 and 6.25 in the monozygotic and dizygotic twins, respectively. These differences were significant (p < 0.01). Heritability was 74%. CONCLUSIONS: In a large cohort of twins that included almost 35,000 individuals, the self-reported overall prevalence of Scheuermann disease was 2.8% and the male-to-female ratio was close to 2:1. Because the pairwise and probandwise concordance and the odds ratio were two to three times higher in monozygotic than in dizygotic twins and the heritability was high, we concluded that there is a major genetic contribution to the etiology of Scheuermann disease.

Classical Scheuermann disease in male monozygotic twins: further support for the genetic etiology hypothesis.

STUDY DESIGN: Classic cases of Scheuermann disease in male monozygotic twins are reported. OBJECTIVES: To report classic cases of Scheuermann disease or Scheuermann kyphosis in male monozygotic twins, and to discuss the previous two cases of classic Scheuermann disease in monozygotic twins and the genetic etiology theory of Scheuermann kyphosis. SUMMARY OF BACKGROUND DATA: The etiology of Scheuermann disease remains unclear. Both genetic and mechanical factors or a combination of the two have been postulated to explain Scheuermann disease. The genetic etiology hypothesis has been explained by an autosomal dominant inheritance pattern. In support of this genetic etiology hypothesis, two cases of Scheuermann disease in monozygotic twins have been reported in the English literature. METHODS: The criteria of Sørensen and Sachs et al were used to diagnose Scheuermann kyphosis. Clinical examination and lateral spinal radiographs were performed on a male monozygotic twin. Both parents were clinically investigated for signs of a kyphotic deformity. RESULTS Scheuermann disease was noted in both patients at the same vertebral levels. The Cobb angle of the kyphosis was 74 degrees and 48 degrees, respectively. Clinical examination of both parents did not show any kyphotic abnormality. CONCLUSIONS: These cases of classic Scheuermann disease in monozygotic male twins support the theory that there is a genetic contribution in classic Scheuermann disease.

Segregation analysis of Scheuermann disease in ninety families from Siberia.

Scheuermann disease [OMIM number 181440] is the most common cause of structural kyphosis in adolescence. Segregation analysis using a model with gender effects was applied to 90 pedigrees from Barnaul (West Siberia, Russia) ascertained through a proband with Scheuermann disease. The transmission probability model was used to detect major gene effect. A significant contribution of a major gene to the control of the pathology was established. Inheritance of the disease can be described within the framework of a dominant major gene diallele model. According to this model, Scheuermann disease should never occur in the absence of the mutant allele. All male carriers of the mutant allele develop the disease, while only a half of female carriers manifest it. We found a high frequency of idiopathic scoliosis in the families with Scheuermann disease (0.08 vs. 0.01-0.02 in general population). We also observed a succession of idiopathic scoliosis and Scheuermann disease in consecutive generations. The familial aggregation of these two spinal pathologies in the present sample may indicate a genetic unity of Scheuermann disease and idiopathic scoliosis.

Estudio inmunogenético de una familia cifosis juvenil de Scheuermann / Scheuermann's disease study immunogenetic in one family

La enfermedad de Scheuermann es una cifosis torácica baja que se desarrolla en la pubertad, de etiología desconocida y que parece tener un patrón de herencia dominante. Para estudiar la causa genética se reportan aquí los haplotipos presentes en una familia mestiza mexicana con enfermedad de Scheuermann. Los resultados muestran que el haplotipo HLA-A2, B18, DR3, SC31-2 estuvo presente en los tres individuos afectados con esta enfermedad. En conclusión, este estudio muestra el patrón de herencia dominante de esta enfermedad; la asociación con los genes del complejo principal de histocompatibilidad requiere estudios de población abierta

Similar radiologic lesions of localized Scheuermann's disease of the lumbar spine in twin sisters.

SUMMARY OF BACKGROUND DATA: Hereditary and mechanical factors are considered to be the principal etiologic factors of Scheuermann's disease. OBJECTIVES: The authors report identical twins presenting similar lesions of localized lumbar osteochondrosis, which were worse in the one twin that practiced strenuous sports activities. CONCLUSIONS: These observations suggest, at least in some of these patients, a basic role for genetic factors in the occurrence of the disease and an influence of mechanical strain on its severity.

Familial Scheuermann disease: a genetic and linkage study.

Scheuermann juvenile kyphosis or Scheuermann disease is the most frequent cause of kyphosis in adolescence. However, the natural history and genetic basis is still unknown. Reports of identical radiological changes in monozygotic twins, sib recurrence, and transmission over three generations suggest underlying heritability. In this study, 12 probands were referred to us. Upon radiological examination of the proband's parents and sibs, seven were shown to have familial Scheuermann disease with an autosomal dominant pattern of inheritance. Of the remaining five probands, four had chromosomal anomalies. The three largest pedigrees were subjected to linkage analysis with three candidate genes: Duffy, COL1A1, and COL1A2. Linkage of Scheuermann disease was excluded with Duffy (lod score = -2.195 at theta = 0.10) and COL1A2 (lod score = -2.750 at theta = 0.05) in these families.

Two hereditary spinal diseases producing kyphosis during adolescence.

Familial accumulation of spinal osteochondrosis (Scheuermann's disease) and hereditary juvenile anterior fusion of the vertebral bodies in the thoraco-lumbal area are reported for the first time in the same family. Radiological examination of the spine in 2 planes of 73 persons formed the basis for the study. Nine cases of spinal osteochondrosis and 5 cases of hereditary juvenile anterior fusion were found. Proliferation and increased height of the anterior surface of the body of the vertebrae and pronounced reduction in the anterior aspect of the intervertebral spaces were characteristic during the early stages of the latter condition, similarly fewer back symptoms and a better prognosis were observed in these patients than was the case of patients with Scheuermann's disease.

Dominant inheritance of Scheuermann's juvenile kyphosis.

Familial occurrence of Scheuermann's juvenile kyphosis is well known, but no specific mode of inheritance has been recognized. We describe five families in which the disease seems to follow and autosomal dominant pattern of inheritance.

Scheuermann's kyphoscoliosis associated with Charcot-Marie-Tooth syndrome.

Much confusion and disagreement exists regarding the classification and characteristics of inherited disorders manifesting neurogenic muscular atrophy. Many authors consider Charcot-Marie-Tooth syndrome (CMTS) and Roussy Levy syndrome (RLS) forme fruste or variants of Friedreich's ataxia (FA). Familial kyphoscoliosis has often been described in FA and RLS but not with CMTS. The purpose of this paper is to present detailed clinical and laboratory findings in a family with three cases of Scheuermann's kyphoscoliosis and CMTS in three generations. In all cases Scheuermann's kyphoscoliosis was associated with pes cavus, markedly diminished vibratory and position sensation in the lower extremities, absent deep tendon reflexes and muscular atrophy, predominantly of the distal muscles. Fine rhythmic tremor of outstretched hands and positive Romberg sign were present in one case only. Serum creating phosphokinase was elevated in two cases. Motor nerve conduction studies revealed impaired function in the median, ulnar, tibial and peroneal nerves. Sensory nerve conduction wal also impaired in median and ulnar nerves. There was evidence of left ventricular hypertrophy in one case only. The nosology and relationship between CMTS, RLS and FA are discussed.