Magnetic resonance imaging in pachydermoperiostosis

doi:10.1016/0899-7071(95)00006-2

Clinical Imaging

Volume 20, Issue 3, July–September 1996, Pages 212-218

https://doi.org/10.1016/0899-7071(95)00006-2 Get rights and content

Abstract

Pachydermoperiostosis is a rare inherited disorder that is manifest clinically by digital clubbing, extremity enlargement, painful and swollen joints, hypertrophic skin changes, and periosteal bone formation. This report illustrates the skeletal findings that may be seen with long-standing disease as evaluated with conventional radiography and with magnetic resonance (MR) imaging, with emphasis on the MR appearance of periosteal reaction in this disorder. There are features that suggest pachydermoperiostosis may represent a generalized enthesopathy.

References (13)

A Vogl et al.
The diagnostic significance of hypertrophic osteoarthropathy
Am J Med
(1955)
A Vogl et al.
Pachydermoperiostosis-primary or idiopathic hypertrophic osteoarthropathy
Am J Med
(1962)
D Resnick et al.
Diagnosis of Bone and Joint Disorders
SG Moore
Magnetic resonance imaging and computed tomography of cortical bone
C Pineda
Diagnostic imaging in hypertrophic osteoarthropathy
Clin Exp Rheumatol
(1992)
Y Araki et al.
Pachydermoperiostosis involving the skull and spine: MR findings
AJR
(1993)

There are more references available in the full text version of this article.

Cited by (13)

A case of secondary hypertrophic osteoarthropathy from medieval Tuscany (central Italy, 10th-12th centuries CE)
2023, International Journal of Paleopathology
This study aims to provide a detailed evaluation of a case of secondary hypertrophic osteoarthropathy (HOA) and to explore insights into the presence and consequences of disease in medieval rural Italy.
The skeleton of a male (US 4405) with an estimated age at death of 51–69 years excavated from the medieval rural site of Pieve di Pava (Siena, Italy).
Macroscopic and radiological (x-ray, CT) analyses were performed.
Symmetrical extensive periosteal new bone formation on the diaphyseal and metaphyseal regions of this individual’s long bones; the lower limbs were more extensively and severely affected than the upper limbs and the distal segments were more severely altered in comparison to the proximal ones.
The macroscopic and radiological features are highly consistent with a diagnosis of secondary HOA.
The excellent state of preservation allowed the evaluation of rarely noted skeletal manifestations of HOA and provided insight into aspects of rural life in medieval Italy.
Molecular analysis was not successful in sequencing the aDNA of tuberculosis, therefore the underlying primary cause of secondary HOA, whether pulmonary or extrapulmonary, remains obscure in this case.
It is advisable to regularly revisit the data available from osteoarchaeological collections in order to identify further cases of HOA, along with to further investigate the known cases to search for the underlying primary disease.
Co-morbidity with hypertrophic osteoarthropathy: A possible Iron Age Sarmatian case from the Volga steppe of Russia
2019, International Journal of Paleopathology
Citation Excerpt :
6524.102 displayed a metopic suture but this is a non-metric trait that is regularly observed in skeletal remains and it is not certain that its occurrence is associated with the disease process. Clinically, the onset of primary HOA is typically during the first year of life and adolescence, and it becomes quiescent or resolves during adulthood (Martinez-Lavin et al., 1988; Loredo et al., 1996; Zhang et al., 2013). It is therefore unlikely that Sk.
Hypertrophic osteoarthropathy (HOA) is a condition that can be inherited or acquired. It causes diffuse periosteal new bone formation on the long bones, with a predilection for the appendicular skeleton. When acquired, it is a nonspecific indicator of systemic disease that arises following a primary condition. This paper reviews the palaeopathological literature associated with this rare condition. It also describes the first possible case of co-morbidity associated with hypertrophic osteoarthropathy in an adult skeleton (cal. BC 170 – 1 cal. AD) from the mobile pastoralist Sarmatian culture of the Volga steppes of Russia.
Macroscopic and radiological examination provide differential diagnoses of the lesions, while clinical and bioarchaeological analyses offer insights into the possible experience of disease and social implications of care among the nomadic populations of Iron Age Russia.
The analysis of Sk. 6524.102 displays lesions that may be due to both hypertrophic osteoarthropathy and osteomalacia. The man was physically impaired and his participation in physically challenging activities would have been limited.
The study stresses that co-morbidity is a key parameter when interpreting disease in past populations, particularly when the diagnosis involves hypertrophic osteoarthropathy.
This is the first case of hypertrophic osteoarthropathy identified in Eurasian prehistoric populations. The research emphasises the significance of co-morbidity in the past.
The diagnosis of co-morbid diseases in human remains is extremely complex and the conditions were identified as most probable by a process of elimination.
Further studies should be dedicated to understanding co-morbidity in the past.
Musculoskeletal Manifestations of Systemic Disease
2015, Textbook of Pediatric Rheumatology
Evidence of hypertrophic osteoarthropathy in individuals from the Coimbra Skeletal Identified Collection (Portugal)
2011, International Journal of Paleopathology
Citation Excerpt :
Since its identification, several theories have been suggested. The neural or neurogenic theory states that HOA features may be induced by neural impulses arising from diseased organs through the vagus nerve (Goldstraw and Walbaum, 1976; Loredo et al., 1996; Gilliland, 2006). This pathway is supported by reversal of the syndrome after vagotomy (Kurzrock and Cohen, 1995).
Hypertrophic osteoarthropathy (HOA) is characterized by symmetrical periosteal new bone deposition on the long and short tubular bones. Besides its unknown etiology, it has been associated with pulmonary, cardiovascular and gastrointestinal disorders. The aims of this research were to assess the presence of HOA and to analyze its distribution by sex, age at death, bones affected, type of new bone formed, and cause of death. A sample of 329 individuals (non-adults and adults, of both sexes) was selected from the Coimbra Skeletal Identified Collection. The sample comprised 125 individuals diagnosed with tuberculosis, 64 with pulmonary non-tuberculosis, and 140 with an extrapulmonary and non-tuberculous cause of death. Lesions compatible with HOA were found in all three groups, being statistically significantly in the individuals who died from pulmonary diseases (χ² = 5.29, df = 1, p = 0.02). The risk of developing HOA was 3.41 (χ² = 7.77, df = 1, p = 0.005) higher in the individuals with tuberculosis when compared with the other groups. This work, based on individuals who died before the introduction of antibiotics for treatment, agrees with clinical studies that have established a possible correlation between pulmonary conditions and HOA. These data may help in differentially diagnosing the many instances of periosteal new bone formation found in archaeologically derived skeletal samples.
Musculoskeletal manifestations of systemic disease
2011, Textbook of Pediatric Rheumatology
Pachydermoperiostosis: A report of two cases
2005, Journal de Radiologie
La pachydermopériostose ou l’ostéoarthropathie hypertrophiante primitive est une maladie génétique bénigne, associant hippocratisme digital, arthropathie, épaississement cutané et périostose des os longs. C’est une entité rare et peu connue qui pose des problèmes de diagnostic différentiel avec les ostéoarthropathies hypertrophiantes secondaires. Les auteurs rapportent deux nouveaux cas avec revue de la littérature.
Pachydermoperiostosis or primary hypertrophic osteoarthropathy is a benign genetically determined disease, manifested by finger clubbing, hypertrophic skin changes and periosteal bone formation. It is rarely reported and was for a long time misdiagnosed and confused with secondary hypertrophic osteoarthropathy. We present the imaging features in two cases and review the literature.

View all citing articles on Scopus

^☆: Supported in part by the Veterans Administration grant SA 360.

View full text

Original articleMagnetic resonance imaging in pachydermoperiostosis☆

Abstract

Am J Med

Am J Med

Diagnosis of Bone and Joint Disorders

Magnetic resonance imaging and computed tomography of cortical bone

Diagnostic imaging in hypertrophic osteoarthropathy

Clin Exp Rheumatol

Pachydermoperiostosis involving the skull and spine: MR findings

AJR

Original article
Magnetic resonance imaging in pachydermoperiostosis☆