DOCSLIB.ORG

Cortical Hyperostosis (Caffey's Syndrome)* by E

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Cortical Hyperostosis (Caffey's Syndrome)* by E Br J Vener Dis: first published as 10.1136/sti.27.4.194 on 1 December 1951. Downloaded from A CASE FOR DIAGNOSIS WITH A NOTE ON INFANTILE CORTICAL HYPEROSTOSIS (CAFFEY'S SYNDROME)* BY E. M. C. DUNLOP - From the Whitechapel Clinic, London copyright. 1@>v;iil'ill,',ll!X'. 1.~~~~~~~~~~~W http://sti.bmj.com/ :>1 , ' ..~~~~~~~A on October 2, 2021 by guest. Protected I t.KAt} alli)\N 11t' |nt 1)I Ii II CI IK Br J Vener Dis: first published as 10.1136/sti.27.4.194 on 1 December 1951. Downloaded from INFANTILE CORTICAL HYPEROSTOSIS 195 copyright. http://sti.bmj.com/ on October 2, 2021 by guest. Protected ;- I FIG. 2.-,X-ray photograph of legs, September 12, 1949, showing periosteal reaction at 8 weeks. Br J Vener Dis: first published as 10.1136/sti.27.4.194 on 1 December 1951. Downloaded from 196 BRITISH JOURNAL OF VENEREAL DISEASES SERUM BABY .EC)TS MOTHER N N 7 N D ) .-i -.-r.-.. T 7'77D3AY5- FPROCA NE PFeNE 6 6 mr5 4 B - 4 p t t O AN F: (t 4 !2 BSM TH C. 7>.ESS .... .. \MY k, Q4` r.) $ 7 A t 4 t. .... ... ..L . : .' 7 JAN MvX A I - . LJ .AAR.,. - 'i 4 '.' - e -) 11. copyright. FIG 3.-Treatment of mother and results of successive serum tests in mother and baby unmarried at the time of enquiry and 23 years of pregnant. She was given 600,000 units of procaine age. Between October, 1945, and May, 1947, she penicillin by intramuscular injection on January had been treated with five courses of '914' and 5; this injection was repeated each day (except bismuth in a corrective training institution. Precise January 11) until January 16-a total dosage of details of her treatment were not available. The 6,600,000 units. On January 18 she was given blood Wassermann reaction had been " strongly arsphenamine diglucoside 0-3 g. intravenously and http://sti.bmj.com/ positive" initially, but was negative by May, 1947. bismuth 0-2 g. intramuscularly. On January 24 She then attended another hospital where the blood and 31 she was given 0 45 g. arsphenamine diglu- Wassermann reaction was negative on October 8, coside and 0-2 g. bismuth. She then defaulted. 1947, and January 1, 1948. On March 4 the patient attended again and was On May 27, 1948, the blood Wassermann reaction given 0-45 g. arsphenamine diglucoside and 0-2 g. (WR) was positive. A further specimen tested at bismuth. the Medical Research Council Laboratory gave She then defaulted until April 20 when she was on October 2, 2021 by guest. Protected the following result: started on a course of procaine penicillin, 600,000 Quantitative Wassermann reaction units daily for 8 days to a total of 4,800,000 units. Positive 1 in 20 dilution. The blood WR was negative on May 9 and on Price precipitation reaction (P.P.R.) .. 0 units. July 15 the patient gave birth to an apparently full- Kahn reaction .. .. .. .. Negative. term male child. The. WR of the cord blood was These suggested that the reaction might be a negative and that of the uterine blood was reported biological false positive. On July 22, the blood as " doubtful ". The Kahn test was negative in WR was negative and a further specimen, examined both specimens. at the Medical Research Council Laboratory, gave On July 25 the patient left hospital and subse- negative results with the WR, P.P.R., and Kahn test. quently refused any further tests or examination. On December 15 and 30, the blood WR was Information about her son, and interviews at this reported as " doubtful ". Examination on the and at another hospital, did nothing to change her latter date showed her to be about 2 months attitude. Br J Vener Dis: first published as 10.1136/sti.27.4.194 on 1 December 1951. Downloaded from INFANTILE CORTICAL HYPEROSTOSIS 197 Discussion examination. The estimate that pregnancy was 2 It is clear that the periostitis could be a mani- months advanced at the end of December suggests festation of active syphilis, or a residuum of the that this was a 37-week pregnancy. There was no disease, or of non-specific origin. The treatment other clinical evidence of prematurity and the with penicillin late in pregnancy and the baby's birthweight was 6 lb. 6 oz. negative blood WR made an active lesion less In view of this evidence and of the considerable likely, as did the fact that there was no clinical and changes present on x-ray examination, prematurity no other radiological evidence suggesting syphilis. appeared a most unlikely cause. Between January 31 and April 20 the patient had It has been suggested that the diagnosis was one been living in a house of ill repute, and during this of infantile cortical hyperostosis. -time she had received only one injection of arsenic .and one of bismuth. Relapse during this period, Infantile Cortical Hyperostosis (Caffey's Syn- or re-infection in the earlier part of it, could have drome).-Caffey and Silverman (1945) described a caused foetal periostitis. The penicillin in April clinical syndrome to which they gave the name could then have cured the maternal and foetal " infantile cortical hyperostosis ". Since that time syphilis, leaving the residual but healing periostitis the condition has been recognized in infants of to show on x-ray examination 5 months later. The many races. An analysis of 42 case reports which -time intervals are such as to make this an unlikely have appeared in the literature gives the following but possible explanation. The absence of osteo- picture. The disease is one of early infancy, 80 chondritis, which usually accompanies an actively per cent. of cases having been recognized within progressing syphilitic periostitis at this early stage, the first 4 months of life: Berkheiser (1949) has is a point in favour of a non-specific cause; spon- reported a case where the condition dated from -taneous regression may leave periostitis as a bone birth; Smyth, Potter, and Silverman (1946) report change in untreated syphilis but this is not common another where the onset occurred as late as 21 at the age of 8 weeks. months of age, but Caffey (1950) has expressed the There was no positive evidence to suggest that belief that the condition in older infants is a separate the periostitis was of non-specific origin. There entity resulting from excessive intake of vitamin A. copyright. -was a history of diarrhoea at the first attendance, Sex.-The condition has been found more often in but this had been transient, lasting less than a week ; males than females; study of the literature shows 28 the baby was well nourished and there was no case reports of male children to only fourteen females. *evidence to suggest vitamin C deficiency as a cause. " Periostitis " due to excessive intake of vitamin General Health.-The affected infants were in most A cases apparently healthy, although upper respiratory is unknown in a child of this age, for the over- tract infections had been associated in ten patients (24 dosage required is very great and must be prolonged per cent.). for at least 6 months (Caffey, 1950). Extensive callus formation, without evidence of Soft TissueSwelling.-In mostcases a swelling developed http://sti.bmj.com/ fracture, has been described in patients with osteo- suddenly over a bone, usually the lower jaw or a limb: mandibular swelling occurred in 25 cases (60 per cent.) genesis imperfecta; Brailsford (1943) ascribed such giving rise to a characteristic " heavy" facies, and limbs changes to coincident scurvy. Fairbank and were swollen in 26 (63 per cent.); in only one patient out Baker (1948) described seven similar cases but of the 42 reviewed was there no swelling at either of these considered that scurvy played no part in the sites. This patient was aged 19 months and was later condition. The clinical picture which they des- thought by Caffey (1950) to have suffered from a different cribed and the shadows of exuberant callus found syndrome due to an excessive intake of vitamin A. on October 2, 2021 by guest. Protected on x-ray examination of their patients appear Swellings occurred less often at other sites, one or both quite distinct from those of the patient under clavicles being affected in six patients and the scapula in review. two, while in single cases the ribs, pelvis, and parietal and occipital -bones were affected. The swellings were Hospital records show that the child was mildly usually tender, deep-seated, firm, and poorly outlined; jaundiced 3 days after birth, but the condition had they showed no increased warmth to the touch nor cleared by the tenth day of life. This was, in any redness of the overlying skin. Pain or irritability case, the mother's first pregnancy and the baby was occurred in 36 patients and was often severe; in only otherwise healthy. In retrospect, the jaundice four patients were the swellings found to be painless. would appear to have been physiological and X-Ray Appearances.-Examination showed external could not be correlated with the gross generalized thickening of the corticalis; this underlay the soft periosteal change discovered later. tissue swellings and, in nearly all cases, was found to The rapid growth of a premature infant may give affect clinically normal bones as well. There was rise to the appearance of " periostitis " on x-ray involvement of long bones of the extremities in 31 out of Br J Vener Dis: first published as 10.1136/sti.27.4.194 on 1 December 1951.
Load more

Recommended publications
  • Crystal Deposition in Hypophosphatasia: a Reappraisal
    Ann Rheum Dis: first published as 10.1136/ard.48.7.571 on 1 July 1989. Downloaded from Annals of the Rheumatic Diseases 1989; 48: 571-576 Crystal deposition in hypophosphatasia: a reappraisal ALEXIS J CHUCK,' MARTIN G PATTRICK,' EDITH HAMILTON,' ROBIN WILSON,2 AND MICHAEL DOHERTY' From the Departments of 'Rheumatology and 2Radiology, City Hospital, Nottingham SUMMARY Six subjects (three female, three male; age range 38-85 years) with adult onset hypophosphatasia are described. Three presented atypically with calcific periarthritis (due to apatite) in the absence of osteopenia; two had classical presentation with osteopenic fracture; and one was the asymptomatic father of one of the patients with calcific periarthritis. All three subjects over age 70 had isolated polyarticular chondrocalcinosis due to calcium pyrophosphate dihydrate crystal deposition; four of the six had spinal hyperostosis, extensive in two (Forestier's disease). The apparent paradoxical association of hypophosphatasia with calcific periarthritis and spinal hyperostosis is discussed in relation to the known effects of inorganic pyrophosphate on apatite crystal nucleation and growth. Hypophosphatasia is a rare inherited disorder char- PPi ionic product, predisposing to enhanced CPPD acterised by low serum levels of alkaline phos- crystal deposition in cartilage. copyright. phatase, raised urinary phosphoethanolamine Paradoxical presentation with calcific peri- excretion, and increased serum and urinary con- arthritis-that is, excess apatite, in three adults with centrations
    [Show full text]
  • XLH Point-Of-Care Resource: Diagnosis & Treatment
    XLH Point-of-Care Resource: Diagnosis & Treatment Overview X-linked hypophosphatemia (XLH) is a disease caused by inactivating mutations in the PHEX gene, which functions to regulate phosphate reabsorption. It is inherited in an X-linked dominant manner and is the most prevalent form of heritable rickets, estimated to occur in 1/20,000 live births. Table 1: Clinical Features of XLH Children and Adolescents Adults Evidence of rickets: wide-based gate, coxa vara, Osteomalacia: defective mineralization, fractures/ genu varum pseudofractures, bone pain Growth retardation Enthesopathy Dental abnormalities Degenerative osteoarthropathy Craniosynostosis and/or intracranial hypertension Spinal stenosis Hearing loss, tinnitus, vertigo Dental abscesses Differential Diagnosis of Adult XLH Rheumatologic/ Hereditary Disease Other Medical Conditions Orthopedic • Autosomal dominant • Osteoporosis, osteopenia • Hypophosphatasia, renal hypophosphatemic rickets (ADHR) • Ankylosing spondylitis insufficiency, liver disease, primary, • Autosomal recessive • Rheumatoid arthritis hypoparathyroidism hypophosphatemic rickets (ARHR) • Osteoarthritis • Renal Fanconi syndrome • Hereditary hypophosphatemic • Systemic lupus erthematosus • Vitamin D deficiency rickets with hypercalciurua • Diffuse idiopathic skeletal (HHRH) hyperostosis • Skeletal dysplasia • Blount disease • Fibrous dysplasia of bones • Tumor-induced osteomalacia (TIO) Measure: Age-Specific Phosphate Reference Mean Upper 97.5% Lower 2.5% Serum: fasting phosphate, calcium, alkaline 7.0 phosphatase, parathyroid hormone (PTH), 25(OH) vitamin D, 1,25(OH)2 vitamin D, and 6.0 creatinine 5.0 Urine: calcium, creatininecalculate the tubular maximum reabsorption of phosphate per 4.0 glomerular filtration rate (TmP/GFR) 3.0 Serum fibroblast growth factor 23 (FGF23) Serum Phos (mg/dL) 2.0 0 5 10 15 20 Diagnostic Assessment of XLH Diagnostic confirmation of XLH by genetic analysis of the PHEX gene Age (Years) © 2021 PRIME Education, LLC.
    [Show full text]
  • Chronic Recurrent Multifocal Osteomyelitis in Children
    Chronic recurrent multifocal osteomyelitis in children Author: Doctor Hermann Girschick1 Creation Date: March 2002 Scientific Editor: Doctor Frank Dressler 1Klinik für Kinderkardiologie, Universitätsklinik der RWTH Aachen - Institut für Humangenetik, Pauwelsstr. 30, 52074 Aachen, Germany. [email protected] Abstract Keywords Included diseases Differential diagnosis Frequency Clinical signs Etiology Diagnostic methods Treatment References Abstract Chronic recurrent multifocal osteomyelitis (CRMO) in children is an inflammatory disorder. It affects mainly the metaphyses of the long bones, in addition to the spine, the pelvis and the shoulder girdle. However, bone lesions can occur at any site of the skeleton. Even though this disease has been recognized as a clinical entity for almost three decades now, its origin and pathogenesis are not entirely clear. No apparent infectious agents are detectable at the site of the bone lesion. No epidemiological data on incidence and prevalence have been published so far. However, incidence might be something around 1:1,000,000, thus reflecting the number of patients followed-up. Clinical diagnosis in an affected child can be difficult because the clinical picture and course of disease may vary significantly. It has been shown that histological examination alone does not allow the distinction of CRMO from acute or subacute bacterial osteomyelitis. Therefore an extensive microbial workup of the tissue biopsy, including PCR- techniques, is essential in order to establish the diagnosis and decide as to the treatment. Non steroid anti-inflammatory drugs (NSAID) are the treatment of choice. In case of frequent relapses oral steroid treatment, bisphosphonates and azulfidine have been used and are reported to be beneficial.
    [Show full text]
  • REPUB 109112-OA.Pdf
    CONSENSUS STATEMENT EXPERT CONSENSUS DOCUMENT Diagnosis and management of pseu do hy popar ath yroi dism and related disorders: first international Consensus Statement Giovanna Mantovani1, Murat Bastepe2,47, David Monk3,47, Luisa de Sanctis4,47, Susanne Thiele5,47, Alessia Usardi6,7,47, S. Faisal Ahmed 8, Roberto Bufo9, Timothée Choplin10, Gianpaolo De Filippo11, Guillemette Devernois10, Thomas Eggermann12, Francesca M. Elli 1, Kathleen Freson13, Aurora García Ramirez14, Emily L. Germain- Lee15,16, Lionel Groussin17,18, Neveen Hamdy19, Patrick Hanna20, Olaf Hiort5, Harald Jüppner2, Peter Kamenický6,21,22, Nina Knight23, Marie-Laure Kottler24,25, Elvire Le Norcy18,26, Beatriz Lecumberri27,28,29, Michael A. Levine30, Outi Mäkitie31, Regina Martin32, Gabriel Ángel Martos- Moreno33,34,35, Masanori Minagawa36, Philip Murray 37, Arrate Pereda38, Robert Pignolo39, Lars Rejnmark 40, Rebecca Rodado14, Anya Rothenbuhler6,7, Vrinda Saraff41, Ashley H. Shoemaker42, Eileen M. Shore43, Caroline Silve44, Serap Turan45, Philip Woods23, M. Carola Zillikens46, Guiomar Perez de Nanclares 38,48* and Agnès Linglart6,7,20,48* Abstract | This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudo hy popar ath yroi dism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early- onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features.
    [Show full text]
  • Maize and Bone: an Evaluation and Expansion of a Proposed Model for the Differential Diagnosis of Pellagra in Human Remains
    The University of Southern Mississippi The Aquila Digital Community Master's Theses Spring 2019 Maize and Bone: An Evaluation and Expansion of a Proposed Model for the Differential Diagnosis of Pellagra in Human Remains Myra G. Miller University of Southern Mississippi Follow this and additional works at: https://aquila.usm.edu/masters_theses Part of the Biological and Physical Anthropology Commons Recommended Citation Miller, Myra G., "Maize and Bone: An Evaluation and Expansion of a Proposed Model for the Differential Diagnosis of Pellagra in Human Remains" (2019). Master's Theses. 639. https://aquila.usm.edu/masters_theses/639 This Masters Thesis is brought to you for free and open access by The Aquila Digital Community. It has been accepted for inclusion in Master's Theses by an authorized administrator of The Aquila Digital Community. For more information, please contact [email protected]. MAIZE AND BONE: AN EVALUATION AND EXPANSION OF A PROPOSED MODEL FOR THE DIFFERENTIAL DIAGNOSIS OF PELLAGRA IN HUMAN REMAINS by Myra Gale Miller A Thesis Submitted to the Graduate School, the College of Arts and Sciences and the School of Social Science and Global Studies at The University of Southern Mississippi in Partial Fulfillment of the Requirements for the Degree of Master of Arts Approved by: Dr. Marie Danforth, Committee Chair Dr. H. Edwin Jackson Dr. B. Katherine Smith Dr. Andrew P. Haley ____________________ ____________________ ____________________ Dr. Marie Danforth Dr. Edward Sayre Dr. Karen S. Coats Committee Chair Director of School Dean of the Graduate School May 2019 COPYRIGHT BY Myra G. Miller 2019 Published by the Graduate School ABSTRACT This study attempts to test and expand a previous study to establish a differential diagnosis of pellagra in human remains (Paine & Brenton, 2006a).
    [Show full text]
  • Hypophosphatasia: an Overview for Physicians and Medical Professionals
    This publication is distributed by Soft Bones Inc., The U.S. Hypophosphatasia Foundation. Hypophosphatasia: An Overview For Physicians and Medical Professionals Michael P. Whyte, M.D. Definition of hypophosphatasia (HPP) Hypophosphatasia (HPP) is the rare genetic form of rickets or osteomalacia that features paradoxically low serum alkaline phosphatase (ALP) activity. Classification Six clinical forms represent a useful classification of HPP. 1. Perinatal Hypophosphatasia 4. Adult Hypophosphatasia 2. Infantile Hypophosphatasia 5. Odontohypophosphatasia 3. Childhood Hypophosphatasia 6. Benign Prenatal Hypophosphatasia The expressivity (disease severity) of HPP ranges greatly with the clinical consequences spanning death in utero from an essentially unmineralized skeleton to problems only with teeth during adult life. The patient’s age at which bone disease becomes apparent distinguishes the perinatal, infantile, childhood, and adult forms. Those who exhibit only dental manifestations have odonto-HPP. The benign prenatal form of HPP is the newest group and manifests skeletal deformity in utero or at birth, but in contradistinction to perinatal HPP is clearly more mild and shows significant spontaneous postnatal improvement. | 2 | Clinical Features 1. Perinatal Hypophosphatasia This is the most severe form of HPP and was almost always fatal until enzyme replacement therapy became available for HPP. At delivery, limbs are shortened and deformed and there is caput membraneceum from profound skeletal hypomineralization. Unusual osteochondral spurs may pierce the skin and protrude laterally from the midshaft of the ulnas and fibulas. There can be a high pitched cry, irritability, periodic apnea with cyanosis and bradycardia, unexplained fever, anemia, and intracranial hemorrhage. Some affected neonates live a few days, but suffer increasing respiratory compromise from defects in the thorax and hypoplastic lungs.
    [Show full text]
  • Hyperostosis-Osteitis (SAPHO) Syndrome Presenting with Osteomyelitis of the Clavicle Chetan Sharma, MD; Brian Chow, MD
    CASE REPORT A Case of Atypical Synovitis-Acne-Pustulosis- Hyperostosis-Osteitis (SAPHO) Syndrome Presenting With Osteomyelitis of the Clavicle Chetan Sharma, MD; Brian Chow, MD ABSTRACT the time of injury indicated a fracture in Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is considered after exclusion the medial left clavicle. Three months later, of infection and arthritis; however, microbial infection may be present in osteoarticular lesions of she presented at pediatrician’s office due to these patients. Chronic osteomyelitis and associated bacterial infection were detected in a recur- worsening pain, and follow-up radiogra- rent osteoarticular lesion in an adolescent patient with a history of clavicle pain, who complained phy revealed marked homogeneous corti- of recurrent swelling in the left clavicle. Most pediatric case reports of SAPHO syndrome describe cal thickening of the proximal two-thirds patients with associated skin conditions. This case report describes a patient diagnosed with of the clavicle. Laboratory evaluation was SAPHO syndrome with no associated skin condition. Although SAPHO syndrome is characterized unremarkable except for elevation in eryth- by dermatological and osteological symptoms, this acronym describes a collection of recurring rocyte sedimentation rate (ESR) at 34 mm/ symptoms. Complete patient medical history and thorough testing, including radiology and hr (reference range 0-14 mm/hr). Magnetic biopsy, are critical for prompt diagnosis and treatment of this condition, particularly
    [Show full text]
  • Pediatric Orthopedics in Practice, DOI 10.1007/978-3-662-46810-4, © Springer-Verlag Berlin Heidelberg 2015 880 Backmatter
    879 Backmatter Subject Index – 880 F. Hefti, Pediatric Orthopedics in Practice, DOI 10.1007/978-3-662-46810-4, © Springer-Verlag Berlin Heidelberg 2015 880 Backmatter Subject index Bold letters: Principal article Italics: Illustrations A Acetylsalicylic acid 303, 335 Adolescent scoliosis Amyloidosis 663 Acheiropodia 804 7 Scoliosis Amyoplasia 813–814 Abducent nerve paresis 752, Achievement by proxy 10, 11 AFO 7 Ankle Foot Orthosis Anaerobes 649, 652, 657 816 Achilles tendon Aggrecan 336, 367, 762 ANA 7 antinuclear antibodies Abducted pes planovalgus – lengthening 371, 426, 431, aggressive osteomyelitis Analysis, gait 488, 490–497 433, 434, 436, 439, 443, 464, 7 osteomyelitis, aggressive 7 Gait analysis Abduction contracture 468, 475, 485, 487–490, 493, Agonist 281, 487, 492, 493, Anchor 169, 312, 550, 734 7 contracture 496, 816, 838, 840 495, 498, 664, 832, 835, 840, Andersen classification abduction pants 219–221 – shortening 358, 418, 431, 868 7 classification, Andersen Abduction splint 212, 218–221, 433, 464, 465, 467, 468, 475, Ahn classification 366 Andry, Nicolas 21, 22 248, 850 489, 496, 838 Aitken classification (congenital Anesthesia 26, 38, 135, 154, Abduction Achondrogenesis 750, 751, femoral deficiency ) 7 classi- 162, 174, 221, 243, 247, 248, – hip 195, 198, 199, 212, 213, 756, 758–760, 769 fication, femoral deficiency 255, 281, 303, 385, 386, 400, 214, 218, 219, 220, 221, Achondroplasia 56, 163, 166, Akin osteotomy 477, 479 500, 506, 559, 568, 582–585, 241–245, 247, 248, 251, 255, 242, 270, 271, 353, 409, 628, Albers-Schönberg
    [Show full text]
  • Conference 11 12 December 2007
    The Armed Forces Institute of Pathology Department of Veterinary Pathology WEDNESDAY SLIDE CONFERENCE 2007-2008 Conference 11 12 December 2007 Moderator: Dr. Steven Weisbrode, DVM, DACVP CASE I – 306729 (AFIP 2840709). Signalment: 1-year-old, female, boxer, canine History: Th e do g presen ted to a referral ho spital for chronic (greater than one month duration) grade II out of VI lameness on the left hind limb with a sho rt stride and mild muscle a trophy. Physical exam revealed pain on manipulation of th e left stifle, m oderate left stifle th ick- ening, and mild decreased range of motion. Radiographs revealed a fluffy proliferation in th e reg ion of th e left stifle fat pad, and thickening with slight mineralization of the medial aspect of the joint. A percutaneous bone core biopsy was performed and was consistent with multifocal osteocartilaginous m etaplasia. Due to th e dog’s ag e at 1-1. Left stifle, boxer. The medial trochlear ridge is the ti me o f the in itial b iopsy (9 months), it was reco m- moderately proliferative and expanded by osteophytes. mended that su rgery to rem ove th e lesional tissu e be Photograph courtesy of Dr. Brian Huss, Vescone postponed un til sym physeal clo sure occurred. The dog (Waltham, MA) and the Angell Memorial Animal Hospi- returned for arthrotomy 5 months later. At surgery, mod- tal, Pathology Department, 350 S. Huntington Ave., Bos- erate degenerative join t di sease (fig. 1 -1) w as noted ton, MA 02130 with numerous osteophytes on the medial trochlear ridge.
    [Show full text]
  • Diffuse Idiopathic Skeletal Hyperostosis of Cervical Spine with Dysphagia—Molecular and Clinical Aspects
    International Journal of Molecular Sciences Review Diffuse Idiopathic Skeletal Hyperostosis of Cervical Spine with Dysphagia—Molecular and Clinical Aspects Mikołaj D ˛abrowski* and Łukasz Kubaszewski Adult Spine Orthopaedics Department, Poznan University of Medical Sciences, 61-545 Poznan, Poland; [email protected] * Correspondence: [email protected] Abstract: Diffuse idiopathic skeletal hyperostosis (DISH) is a condition characterized by the calcifica- tion and ossification of the ligaments of the cervical spine; in some cases, it may result in dysphagia. The condition is more common in men over 50 years of age with metabolic disorders, and it is often asymptomatic and not a major issue for patients. The etiology of DISH is poorly understood, and known genetic factors indicate multiple signal pathways and multigene inheritance. In this review, we discuss the epidemiological, clinical, and etiological aspects of DISH with a special focus on dysphagia. Keywords: cervical spine; DISH; diffuse idiopathic skeletal hyperostosis; Forestier disease; dyspha- gia; molecular and genetical factors; DISHphagia 1. Introduction Citation: D ˛abrowski, M.; Diffuse idiopathic skeletal hyperostosis (DISH/Forestier’s disease) is a condition Kubaszewski, Ł. Diffuse Idiopathic characterized by the calcification and ossification of the ligaments of the cervical spine, and Skeletal Hyperostosis of Cervical the condition may be exclusive to this area of the spine [1]. Spine with Dysphagia—Molecular DISH occurs with a frequency of 2–4% in patients over 40 years of age, up to 11% with and Clinical Aspects. Int. J. Mol. Sci. middle-aged patients, and this increases to 28% in those over 80 years of age [2]. DISH is 2021, 22, 4255.
    [Show full text]
  • Tumor-Induced Osteomalacia
    Endocrine-Related Cancer (2011) 18 R53–R77 REVIEW Tumor-induced osteomalacia William H Chong1, Alfredo A Molinolo2, Clara C Chen3 and Michael T Collins1 1Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, 2Oral Pharyngeal Cancer Branch, National Institute of Dental and Craniofacial Research and 3Nuclear Medicine, Radiology and Imaging Sciences, Hatfield Clinical Research Center, National Institutes of Health, Bethesda, Maryland 20892, USA (Correspondence should be addressed to M T Collins; Email: [email protected]) Abstract Tumor-induced osteomalacia (TIO) is a rare and fascinating paraneoplastic syndrome in which patients present with bone pain, fractures, and muscle weakness. The cause is high blood levels of the recently identified phosphate and vitamin D-regulating hormone, fibroblast growth factor 23 (FGF23). In TIO, FGF23 is secreted by mesenchymal tumors that are usually benign, but are typically very small and difficult to locate. FGF23 acts primarily at the renal tubule and impairs phosphate reabsorption and 1a-hydroxylation of 25-hydroxyvitamin D, leading to hypophos- phatemia and low levels of 1,25-dihydroxy vitamin D. A step-wise approach utilizing functional imaging (F-18 fluorodeoxyglucose positron emission tomography and octreotide scintigraphy) followed by anatomical imaging (computed tomography and/or magnetic resonance imaging), and, if needed, selective venous sampling with measurement of FGF23 is usually successful in locating the tumors. For tumors that cannot be located, medical treatment with phosphate supplements and active vitamin D (calcitriol or alphacalcidiol) is usually successful; however, the medical regimen can be cumbersome and associated with complications. This review summarizes the current understanding of the pathophysiology of the disease and provides guidance in evaluating and treating these patients.
    [Show full text]
  • SAPHO Syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis)
    SAP – SAPHO: Synovitis, Acne, Pustulosis, Hyperostosis & Osteitis Syndrome NIHR BioResource – Rare Diseases study project Lead Investigator: Dr Judith Bubbear V2 08/11/2019 Summary SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a rare inflammatory bone disease that affects one in ten thousand individuals with peak onset between 20-50 years old. SAPHO syndrome typically affects the sterno-clavicular joint and anterior chest wall including the breast and collarbones. It can be associated with palmo- plantar pustulosis, severe acne and other skin conditions. Currently there is no diagnostic test or approved treatment for these patients and although the disease is not life threatening, it significantly affects quality-of-life for both the patient and their family. SAPHO syndrome may be linked to another disease referred to as CNO or CRMO (chronic non-bacterial osteomyelitis / chronic recurrent multifocal osteomyelitis) that affects children and young adults. Both conditions have variable onsets and clinical features which makes studying them a particular challenge. We aim to develop new treatments and ways of using existing treatments. To enable this, we have support from the NIHR BioResource to gather a cohort of SAPHO and CNO patients. These patients will help us to understand the genetic cause of these diseases and to unravel changes in cellular function. Patients will also facilitate studies into the natural history of the disease and improve our provision of care to both patients and their carers. To improve people’s quality of life, patient engagement is critical in this under-researched area. Consequently, in partnership with the NIHR we have also set up a patient advisory group.
    [Show full text]