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Sclerotic vertebral endplates

MedGen UID:
1642576
Concept ID:
C4551970
Finding
Synonym: Large joint contractures
 
HPO: HP:0004576

Definition

Sclerosis (increased density) affecting vertebral end plates. [from HPO]

Term Hierarchy

Conditions with this feature

Progressive pseudorheumatoid dysplasia
MedGen UID:
96581
Concept ID:
C0432215
Congenital Abnormality
Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Onset – typically between ages three and six years – begins with the involvement of the interphalangeal joints. Over time, involvement of large joints and the spine causes significant joint contractures, gait disturbance, and scoliosis and/or kyphosis, resulting in abnormal posture and significant morbidity. Despite the considerable arthropathy, pain is not a major presenting feature of this condition. Initially height is normal; however, short stature (<3rd centile) becomes evident in adolescence as the skeletal changes progress.
Autosomal recessive osteopetrosis 4
MedGen UID:
370598
Concept ID:
C1969106
Disease or Syndrome
The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related autosomal recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII; Albers-Schönberg disease). ARO. Onset is at birth. Findings may include: fractures; reduced growth; sclerosis of the skull base (with or without choanal stenosis or hydrocephalus) resulting in optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental abnormalities, odontomas, and risk for mandibular osteomyelitis; and hypocalcemia with tetanic seizures and secondary hyperparathyroidism. Without treatment maximal life span in ARO is ten years. IAO. Onset is in childhood. Findings may include: fractures after minor trauma, characteristic skeletal radiographic changes found incidentally, mild anemia, and occasional visual impairment secondary to optic nerve compression. Life expectancy in IAO is usually normal. ADOII. Onset is usually late childhood or adolescence. Findings may include: fractures (in any long bone and/or the posterior arch of a vertebra), scoliosis, hip osteoarthritis, and osteomyelitis of the mandible or septic osteitis or osteoarthritis elsewhere. Cranial nerve compression is rare.
Osteosclerotic metaphyseal dysplasia
MedGen UID:
767579
Concept ID:
C3554665
Disease or Syndrome
Osteosclerotic metaphyseal dysplasia (OSMD) is a rare condition characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones. The shafts of the long bones are osteopenic. Laboratory abnormalities include elevated alkaline phosphatase levels in some, but not all, patients. Elevated urinary pyridinoline and deoxypyridinoline levels, markers of osteoclastic activity, have also been reported (Nishimura and Kozlowski, 1993; Kasapkara et al., 2013; Guo et al., 2017). Patients with OSMD have been described who also show hypotonia, developmental delay, seizures, and later-onset spastic paraplegia; however, OSMD resulting from mutation in the LRRK1 gene does not appear to include these neurologic features (Nishimura and Kozlowski, 1993; Kasapkara et al., 2013; Guo et al., 2017). Reviews Howaldt et al. (2020) reviewed published reports of LRRK1-associated OSMD, and noted that patients typically present with recurrent pathologic fractures and osteosclerosis at multiple skeletal sites, predominantly at the metaphyses and vertebral bodies. Variable degrees of osteosclerosis of ribs and skull and of Erlenmeyer flask deformity of the femurs have been observed.
Sclerosteosis 1
MedGen UID:
1642815
Concept ID:
C4551483
Disease or Syndrome
SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease, both disorders of progressive bone overgrowth due to increased bone formation. The major clinical features of sclerosteosis are progressive skeletal overgrowth, most pronounced in the skull and mandible, and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Facial distortion due to bossing of the forehead and mandibular overgrowth is seen in nearly all individuals and becomes apparent in early childhood with progression into adulthood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (leading to facial palsy) with other, less common nerve entrapment syndromes including visual loss (2nd cranial nerve), neuralgia or anosmia (5th cranial nerve), and sensory hearing loss (8th cranial nerve). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual, but not unprecedented. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent; life span appears to be normal.

Professional guidelines

PubMed

Madigan L, Vaccaro AR, Spector LR, Milam RA
J Am Acad Orthop Surg 2009 Feb;17(2):102-11. doi: 10.5435/00124635-200902000-00006. PMID: 19202123

Recent clinical studies

Etiology

Applebaum A, Nessim A, Cho W
Clin Spine Surg 2022 Feb 1;35(1):12-17. doi: 10.1097/BSD.0000000000001168. PMID: 33769981
Chhugani S, Agarwal N, Sheikh F, Borca F, Spanoulis A, Galea I
Eur J Neurol 2021 Aug;28(8):2497-2502. Epub 2021 May 5 doi: 10.1111/ene.14855. PMID: 33817913
Tu L, Liu X, Gu W, Wang Z, Zhang E, Kahar A, Chu G, Zhao J
Med Sci Monit 2018 Apr 29;24:2647-2654. doi: 10.12659/MSM.909288. PMID: 29705812Free PMC Article
Fucs PM, Meves R, Yamada HH
Int Orthop 2012 Feb;36(2):387-95. Epub 2011 Oct 28 doi: 10.1007/s00264-011-1388-2. PMID: 22033611Free PMC Article
Kuisma M, Karppinen J, Haapea M, Lammentausta E, Niinimäki J, Tervonen O
Skeletal Radiol 2009 Feb;38(2):141-7. Epub 2008 Sep 20 doi: 10.1007/s00256-008-0590-9. PMID: 18807028

Diagnosis

Guariento A, Sharma P, Andronikou S
Pediatr Radiol 2023 Sep;53(10):2092-2103. Epub 2023 May 19 doi: 10.1007/s00247-023-05688-5. PMID: 37204463
Applebaum A, Nessim A, Cho W
Clin Spine Surg 2022 Feb 1;35(1):12-17. doi: 10.1097/BSD.0000000000001168. PMID: 33769981
Tu L, Liu X, Gu W, Wang Z, Zhang E, Kahar A, Chu G, Zhao J
Med Sci Monit 2018 Apr 29;24:2647-2654. doi: 10.12659/MSM.909288. PMID: 29705812Free PMC Article
Fucs PM, Meves R, Yamada HH
Int Orthop 2012 Feb;36(2):387-95. Epub 2011 Oct 28 doi: 10.1007/s00264-011-1388-2. PMID: 22033611Free PMC Article
Theodorou DJ, Theodorou SJ, Resnick D
Semin Dial 2002 Jul-Aug;15(4):290-6. doi: 10.1046/j.1525-139x.2002.00070.x. PMID: 12191028

Therapy

Liu J, Ding W, Yang D, Wu H, Hao L, Hu Z, Fan S, Zhao F
World Neurosurg 2020 Jun;138:e160-e168. Epub 2020 Feb 17 doi: 10.1016/j.wneu.2020.02.047. PMID: 32081816
Raastad J, Reiman M, Coeytaux R, Ledbetter L, Goode AP
Semin Arthritis Rheum 2015 Apr;44(5):571-585. Epub 2014 Dec 8 doi: 10.1016/j.semarthrit.2014.10.006. PMID: 25684125
Shimizu J, Yoshimoto M, Takebayashi T, Ida K, Tanimoto K, Yamashita T
Spine (Phila Pa 1976) 2014 May 20;39(12):E739-42. doi: 10.1097/BRS.0000000000000317. PMID: 24718064
Madigan L, Vaccaro AR, Spector LR, Milam RA
J Am Acad Orthop Surg 2009 Feb;17(2):102-11. doi: 10.5435/00124635-200902000-00006. PMID: 19202123
Theodorou DJ, Theodorou SJ, Resnick D
Semin Dial 2002 Jul-Aug;15(4):290-6. doi: 10.1046/j.1525-139x.2002.00070.x. PMID: 12191028

Prognosis

Dagestad MH, Vetti N, Kristoffersen PM, Zwart JA, Storheim K, Bakland G, Brox JI, Grøvle L, Marchand GH, Andersen E, Assmus J, Espeland A
BMC Musculoskelet Disord 2022 Jul 22;23(1):695. doi: 10.1186/s12891-022-05610-4. PMID: 35869480Free PMC Article
Kim YH, Ha KY, Kim KT, Chang DG, Park HY, Yoon EJ, Kim SI
Sci Rep 2021 Oct 11;11(1):20149. doi: 10.1038/s41598-021-99751-6. PMID: 34635757Free PMC Article
Estublier C, Chapurlat R, Szulc P
Rheumatology (Oxford) 2017 Jan;56(1):37-45. Epub 2016 Oct 3 doi: 10.1093/rheumatology/kew327. PMID: 27703044
Simmonds AM, Rampersaud YR, Dvorak MF, Dea N, Melnyk AD, Fisher CG
J Neurosurg Spine 2015 Aug;23(2):178-89. Epub 2015 May 15 doi: 10.3171/2014.11.SPINE1426. PMID: 25978079
Waizy H, Heckel M, Seller K, Schroten H, Wild A
Arch Orthop Trauma Surg 2007 Aug;127(6):403-7. Epub 2007 Apr 5 doi: 10.1007/s00402-007-0316-9. PMID: 17410370

Clinical prediction guides

Ladd LM, Imel EA, Niziolek PJ, Liu Z, Warden SJ, Liang Y, Econs MJ
Skeletal Radiol 2021 May;50(5):903-913. Epub 2020 Oct 3 doi: 10.1007/s00256-020-03625-3. PMID: 33009917Free PMC Article
Liu J, Ding W, Yang D, Wu H, Hao L, Hu Z, Fan S, Zhao F
World Neurosurg 2020 Jun;138:e160-e168. Epub 2020 Feb 17 doi: 10.1016/j.wneu.2020.02.047. PMID: 32081816
Simmonds AM, Rampersaud YR, Dvorak MF, Dea N, Melnyk AD, Fisher CG
J Neurosurg Spine 2015 Aug;23(2):178-89. Epub 2015 May 15 doi: 10.3171/2014.11.SPINE1426. PMID: 25978079
Raastad J, Reiman M, Coeytaux R, Ledbetter L, Goode AP
Semin Arthritis Rheum 2015 Apr;44(5):571-585. Epub 2014 Dec 8 doi: 10.1016/j.semarthrit.2014.10.006. PMID: 25684125
Rodriguez AG, Rodriguez-Soto AE, Burghardt AJ, Berven S, Majumdar S, Lotz JC
J Orthop Res 2012 Feb;30(2):280-7. Epub 2011 Aug 2 doi: 10.1002/jor.21513. PMID: 21812023Free PMC Article

Recent systematic reviews

Lawan A, Crites Videman J, Battié MC
Eur Spine J 2021 Sep;30(9):2531-2548. Epub 2021 May 22 doi: 10.1007/s00586-021-06865-6. PMID: 34021785
Simmonds AM, Rampersaud YR, Dvorak MF, Dea N, Melnyk AD, Fisher CG
J Neurosurg Spine 2015 Aug;23(2):178-89. Epub 2015 May 15 doi: 10.3171/2014.11.SPINE1426. PMID: 25978079
Raastad J, Reiman M, Coeytaux R, Ledbetter L, Goode AP
Semin Arthritis Rheum 2015 Apr;44(5):571-585. Epub 2014 Dec 8 doi: 10.1016/j.semarthrit.2014.10.006. PMID: 25684125

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