Recurrence of Infantile Cortical Hyperostosis

Navarre, Pierre; Pehlivanov, Ivaylo; Morin, Benoit

doi:10.1097/bpo.0b013e318277d3a2

Cited by 19 publications

(3 citation statements)

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“…Infantile cortical hyperostosis (ICH), also known as Caffey disease, Caffey-Silverman or Smyth syndrome, is a genetic self limiting bone disorder of early childhood characterized by acute inflammation of soft tissues and localized thickening of the underlying bone cortex [8]. Diagnosis may be delayed as this disorder mimics a wide range of diseases (osteomyelitis, hypervitaminosis A, scurvy, bone tumours, metastatic neuroblastoma, iatrogenic administration of prostaglandins E1 or E2, severe chronic hypoparathyroidism, hyperphosphatemia and child abuse) [9,10].…”

Section: Discussionmentioning

confidence: 99%

“…However, periods of exacerbations and remissions frequently occur, at identical and distant sites, in the first 2 or 3 years of life and several well documented cases of recurrence of cortical hyperostosis during adolescence have also been reported [18,19]. Outcome is unpredictable and sometimes characterized by a protracted clinical course: tubular bones may be deformed with osseous bridges between adjacent bones, synostoses, scoliosis mild leg-length discrepancy, long bone angular deformity, facial asymmetry, and small stature have also been described [10,20].…”

Section: Discussionmentioning

confidence: 99%

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A Case of Localized neuroblastoma in Caffey Disease, with Early and Uncommon Progression

Pagano¹

2015

Int J Blood Res Disord

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A Case of Localized neuroblastoma in Caffey Disease, with Early and Uncommon Progression

Pagano¹

2015

Int J Blood Res Disord

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“…Bennett et al, and later Lecolier et al also described a lethal prenatal form of Caffey disease with distinct bone lesions that are recognized radiographically on average by 27 weeks of gestation [4, 5]. The infantile form of the disease is usually self-limiting, with spontaneous regression by two years; however, several well documented cases of recurrence of cortical hyperostosis during adolescence have also been reported [6, 7]. …”

Section: Caffey Disease Overviewmentioning

confidence: 99%

Caffey disease: New perspectives on old questions

Nistala

Mäkitie

Jüppner

2014

Bone

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The autosomal dominant form of Caffey disease is a largely self-limiting infantile bone disorder characterized by acute inflammation of soft tissues and localized thickening of the underlying bone cortex. It is caused by a recurrent arginine-to-cysteine substitution (R836C) in the α1(I) chain of type of I collagen. However, the functional link between this mutation and the underlying pathogenetic mechanisms still remains elusive. First, it remains to be established as to how a point-mutation in type I collagen leads to a cascade of inflammatory events and spatio-temporally limited hyperostotic bone lesions, and second, the contribution of the structural and inflammatory components to the different organ-specific manifestations in Caffey disease. In this review we attempt to shed light on these questions based on the current understanding of other mutations in type I collagen, their role in perturbing collagen biogenesis, and consequent effects on cell-cell and cell-matrix interactions.

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Evidence of probable subadult scurvy in the Early Medieval cemetery of Castel Tirolo, South Tyrol, Italy

Paladin

Wahl

Zink

2018

Intl J of Osteoarchaeology

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The study of subadult scurvy (vitamin C deficiency), also known as Möller-Barlow's disease, is of growing interest in palaeopathology. However, in Italy, there is still a paucity of knowledge on nutritional stress diseases in human skeletal remains.In the present work, the anthropological and palaeopathological study on subadults found in the Early Medieval cemetery of Castel Tirolo, in South Tyrol (Italy) is reported. Referring to the macroscopic and palaeopathological features described in the literature, abnormal pores, and abnormal new bone formations were analysed in multiple cranial and postcranial skeletal regions. Based on our study, 58% individuals (N = 14/24) displayed abnormal lesions: three subadults were nonspecific pathological cases; nine showed few indicative, but not diagnostic, lesions; and two cases (TCT13 and TCT14) exhibited abnormal lesions highly consistent with scurvy. As a reliable diagnosis of vitamin C deficiency is still challenging, we conducted a differential diagnosis of the recorded lesions that supported the probable presence of scurvy in the two cases.This work presents the first documentation of scurvy in Early Medieval Italy revealing new insights into the health condition and nutritional stress in historical communities in the Eastern Italian Alps.

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Recurrence of Infantile Cortical Hyperostosis

Abstract: Level V--case report.

Cited by 19 publications

References 21 publications

A Case of Localized neuroblastoma in Caffey Disease, with Early and Uncommon Progression

A Case of Localized neuroblastoma in Caffey Disease, with Early and Uncommon Progression

Caffey disease: New perspectives on old questions

Evidence of probable subadult scurvy in the Early Medieval cemetery of Castel Tirolo, South Tyrol, Italy

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