Thalassemia: macroscopic and radiological study of a case

Differentiation of the genetic and the acquired anaemias, particularly in areas of the world where they may co‐exist, has been a challenge for palaeopathologists for over 100 years. In this paper we present macroscopic and radiographic skeletal lesions that are associated with the thalassemias in a 14‐year‐old girl from a modern reference collection of the University of Athens. This individual is of known sex, age, cause of death, place and dates of birth and death. The case is examined in terms of epidemiology, growth, distribution and severity of lesions and differential diagnosis. The entire skeleton is affected by marrow hyperplasia: lesions of the axial skeleton are extreme, and the appendicular skeleton is severely affected as well. The odontofacial manifestations that are diagnostic of thalassemia and differentiate it from other anaemias are present and include: maxillary and mandibular hyperplasia, reduced sinuses, displacement of maxillary dental structures, overbite, and generalised osteopenia. The development of extreme bone lesions and the ‘advanced’ age‐at‐death of this individual is explained as either the result of thalassemia major under a low transfusion regimen that was the norm during her lifetime, or to a form of thalassemia intermedia that allows survival to later life at the expense of gross skeletal alterations. The present status of skeletal studies in Greece does not support the identification of a genetic anaemia in past populations. The potential contribution of the current analysis in differentiating the anaemias in antiquity is evaluated. Copyright © 2006 John Wiley & Sons, Ltd.     

Severe vertebral collapse in a juvenile from the graveyard (13th/14th–19th centuries) of the São Miguel church (Castelo Branco,Portugal): differential palaeopathological diagnosis

Diseases that culminate into vertebral collapse are of intricate diagnosis both in palaeopathology and modern clinical practice. When analysing human skeletal remains from the archaeological record this difficulty is amplified due to the absence of complementary medical diagnostic information. This is especially evident when the distinction between tuberculous and pyogenic spondylitis is intended. Taking into consideration this challenging task and based on the macroscopic and radiological study of the skeleton number 8, a specimen exhumed from the East necropolis (13th/14th to 19th centuries) of the São Miguel church, at the Portuguese city of Castelo Branco, the aims of the work here presented are to discuss the range of possible aetiological factors, especially infectious ones, ascribable to the striking pathological changes noticed on this 12‐year‐old individual. These included alterations on the axial skeleton, namely extensive vertebral destruction, presenting as a gibbus deformity, and correlated thoracic deformities. Consubstantiated on palaeopathological and clinical research, tuberculous spondylitis seems to be the most probable cause for the reported lesions. However, the scrutiny between this condition and other pyogenic spinal infections is of extreme complexity when analysing ancient human remains and deserves in‐depth future investigations. Within the framework of the Portuguese archaeological record, the specimen here presented is of major relevance since the pattern and severity of the spinal osseous changes observed were not previously reported. Further, if tuberculous spondylitis is assumed as the most probable diagnosis, the case here presented represents one of the earliest skeletal evidence of this condition in Portugal. Copyright © 2009 John Wiley & Sons, Ltd.     

Metastatic carcinoma in a 14th–19th century skeleton from Constância (Portugal)

During 2002, the extensive archaeological excavations of the ancient Constância necropolis (Centre of Portugal), dated from 14th–19th centuries, resulted in the exhumation of 151 individuals. Among the several paleopathological cases, a middle‐aged female skeleton with osteolytic lesions in her skull, axial skeleton, upper limbs and femurs was observed. These pathological findings are characterised by an asymmetric pattern with osteolytic focus of distinct size and irregular shape. Some skeletal elements display both osteolytic and osteoblastic lesions. The latter exhibit deposition of fine layers of woven bone. Lesions were observed macroscopically and radiology was used as a complementary method of scrutiny, especially in cases of unclear observation. The case was diagnosed as that of a probable metastatic carcinoma due to the multifocal distribution of the lesions in areas of intense haematopoietic activity, their morphology and some osteoblastic responses, as well as the presence of pathological fractures in the ribs. The skeleton's sex and age at death are in agreement with the proposed diagnostic, constituting the first case of malignant carcinoma detected in non‐identified Portuguese human skeletal remains. Copyright © 2009 John Wiley & Sons, Ltd.     

Cystic Mandibular Lesion in the Antiquity. A Rare Finding

Ameloblastoma is a not uncommon tumour reported in the clinical literature and is characterised by a multilocular cavity with ‘soap bubble’ pattern usually in the posterior body of the mandible. A review of the palaeopathology literature did not reveal any examples of ameloblastoma. In this paper, a probable case of ameloblastoma in a male skeleton, 45 – 55 years at age of death, from Casserres, Barcelona, Spain, (ca ad V‐IX centuries) is presented. This case was identified during the anthropological study of the remains in the laboratory of biological anthropology in the Universitat Autònoma de Barcelona. The mandible of this individual (AEC'07‐C2‐139) exhibits unusual features, like cavitated lesions in the posterior side of the right gonion and the expansion of the right ramus of the mandible. All these features are consistent with ameloblastoma. Copyright © 2011 John Wiley & Sons, Ltd.     

Skeletal metastatic carcinoma: A case from 15th–20th century Coimbra,Portugal

This paper discusses the differential diagnosis of unusual and distinct pathological changes in the skeletal remains of a 40+‐year‐old female from 15th–20th century Coimbra (Portugal). The most affected area seems to have been the skull, but multiple lesions, lytic and/or blastic, have been found throughout the post‐cranial skeleton, more specifically in the scapulae, clavicles, humerus, sternum, ribs, sacrum, innominates and femurs. The differential diagnosis of the lesions gave rise to several possible pathological conditions, namely, Langerhans cell histiocytosis (granulomatosis or Histiocytosis X), multiple myeloma and metastatic carcinoma. Various macroscopic and radiological aspects lead us to consider metastatic carcinoma as the most probable diagnosis. Despite the argumentative identity of the possible primary lesion, age, sex and the mixed nature of the osseous response are consistent with cancer of the breast but do not exclude other carcinomas, namely lung cancer. With temporal and regional differences emerging in the frequency of malignant tumours, the identification of new cases becomes important, particularly from geographic areas where few cases have been reported. In fact, the present report adds to the only case of metastatic carcinoma detected in non‐identified Portuguese human skeletal remains until now. Copyright © 2009 John Wiley & Sons, Ltd.     

A case of healing spinal infection from classical Rome

This paper describes a spinal infection in an adult male skeleton from Ist century AD necropolis in Rome. Pathological alterations of the lower thoracic vertebrae, including bone destruction and fusion, suggest tuberculous spondylitis as the most probable diagnosis. The rarity of healing infections, as well as the non‐diagnostic appearance of the lesions, have prompted this note. Copyright © 2005 John Wiley & Sons, Ltd.     

A case of Madelung's deformity in a skeleton from Nuragic Sardinia

The case reported here refers to the skeletal remains of a mature adult male found in a collective grave known as ‘Giant's tomb’ located near Donori (Sardinia) and dating to the end of the Bronze Age. The skeleton showed bilateral shortening of the forearm associated to radial bowing, marked deformations at the radio‐ulnar distal joints and subsequent posterior dislocation of both ulnae. The whole alterations fit well with a diagnosis of Madelung's deformity, a rare form of mesomelic dysplasia. At present, this case is the most ancient evidence of Madelung's deformity. Copyright © 2002 John Wiley & Sons, Ltd.     

Erosive peripheral polyarthritis in ancient Japanese skeletons: A possible case of rheumatoid arthritis

The antiquity of rheumatoid arthritis (RA) is still in dispute, due to the difficulty of conclusively differentiating peripheral polyarthritis, especially from spondyloarthropathy, in archaeological populations. In view of the importance of genetic factors in developing spondyloarthropathy and of the far lower prevalence of the disease in modern Japanese, a rarity of peripheral polyarthritis would be anticipated in the ancient Japanese population, given that RA had not been present there. One hundred and sixty adult Japanese skeletons of the late and final Jomon period (3400–2400 years bp ) were examined to find peripheral polyarthritis. There was one male skeleton with peripheral polyarthritis, showing marginal and surface erosions in the joints of the hands, feet, ankle and zygoapopheseal joints of the thoracic vertebrae. RA is suggested as the most probable cause of this pathology. This report raises the significance of further studies to consider whether more cases than anticipated exist in skeletal populations that would have been resistant to developing spondyloarthropathy. Copyright © 1999 John Wiley & Sons, Ltd.     

Knee Ankyloses Associated with Tuberculosis from the Medieval Hungary – Differential Diagnosis Based on Medical Imaging Techniques

Osseous ankylosis of large joints that occurs secondary to infection is rarely described in developed countries, thanks to diagnostic techniques that allow early detection and treatment of the underlying infection. Evidence of the natural history and progression of the disease is now primarily studied through the observation and analysis of osteoarcheological specimens, and medical reports or books dating from the pre‐antibiotic era. This report illustrates several cases where modern medical imaging techniques and ancient medical literature were successfully interpreted to diagnose rare, advanced‐stage tuberculous alterations in osteoarcheological specimens. Two skeletons from the Bátmonostor cemetery (Hungary) demonstrate complete unilateral ankylosis of the knee. Macroscopic and radiographic examinations were undertaken to assess the extent of skeletal changes and determine their cause. Data obtained from computed tomography (CT) were constructed in 2D and 3D. The 2D CT images revealed cavities involving both the metaphyses and the epiphyses. The 3D reconstructions allowed us to reconstruct the more precise volumetric morphology of the circumscribed lytic lesions, as well as clear ‘image‐mirror’ lacunar volumes. On the basis of the macroscopic and radiological analyses, extra‐spinal tuberculous infection seems to have been the most probable etiology of these two cases. Copyright © 2012 John Wiley & Sons, Ltd.     

Multicentric osteosarcoma associated with DISH,in a 19th century burial from England

Osteosarcoma is a rare type of malignant neoplasm that is most frequent in adolescents and young adults although it can develop at any age. It can metastasize from a primary site in bone to other bones and soft tissues. Usually the disorder causes a single bone‐forming lesion (unicentric) but some cases have multicentric, bone‐forming lesions. Some of these lesions develop at different sites at different times. In a second variant of multicentric osteosarcoma, synchronous bone‐forming lesions develop at multiple sites. Distinguishing between these two types of multicentric osteosarcoma is challenging in a clinical context and the criteria for doing so are unlikely to be met in an archaeological burial. Wolverhampton burial HB 39 was excavated from an early‐nineteenth century cemetery site in England. It consists of the incomplete skeleton of an adult male of at least 45 years of age with multicentric osteosarcoma. The individual represented by this burial also had diffuse idiopathic skeletal hyperostosis (DISH). Three of the bone‐forming lesions associated with osteosarcoma developed on the bony outgrowths related to DISH. Copyright © 2010 John Wiley & Sons, Ltd.     

Multiple bone tuberculosis in a child from predynastic Upper Egypt (3200 BC)

Tuberculosis, one of the most ancient human diseases, was present in ancient Egypt and has been observed since predynastic times. Excavations in the predynastic to early dynastic necropolis of Adaima, Upper Egypt (3500–2700 BC) led to the discovery of a number of remarkably well‐preserved skeletons of children. The skeletal remains of a 4.5–5‐year‐old child dated from Nagada III A2 (3200–3100 BC) displayed various lesions on the post‐cranial skeleton: spondylitis on the thoracic (T12) and lumbar (L1) vertebrae, partial lytic destruction of the right radio‐ulnar joint, lytic lesions on the scapula and a clavicle, dactylitis on the short bones of hands and feet, enlargement (spina ventosa) and periosteal new bone formation on the long bones. Radiographs show well‐defined radiolucent (cyst‐like) lesions in the metaphysis and the diaphysis of long tubular bones (ulna, radius, femur, tibia, fibula). The lesions recorded during macroscopic and radiological analysis strongly suggest a case of multiple bone tuberculosis. The occurrence of this case of tuberculosis in a child provides a picture of a period where tuberculosis must have been endemic throughout the population living during the origins of urban settlement in Upper Egypt during the predynastic period. Copyright © 2009 John Wiley & Sons, Ltd.     

Retracted: A Possible Case of Hypopituitarism in Neolithic China

A human skeleton with a possible case of hypopituitarism is reported. The individual (burial M53) is from the site of Guanjia, a Neolithic settlement in northern China, dated to the Late Yangshao period (6000–5500 bp ). On the basis of the fully erupted third permanent molars and moderate occlusal dental wear resulting in substantial exposure of dentine, the initially estimated age‐at‐death was placed between 26 and 33 years. However, dimensions of the postcranial skeleton fall significantly below and outside the range from contemporaneous adult populations, and along with delayed epiphyseal fusion present throughout the skeleton, the postcranial age is concordant to that of an 11‐ to 13‐year‐old child. Most long bone epiphyses display incomplete fusion or are entirely unfused, but a lack of microporosity in the metaphyseal areas near growth plates indicates a cessation of longitudinal bone growth. Because no signs of porotic hyperostosis, cribra orbitalia, periosteal lesions or linear enamel hypoplasia are observed, the restricted growth of this individual is likely caused by a growth hormone disorder and is unrelated to nutritional deficiencies or systemic infection. Copyright © 2011 John Wiley & Sons, Ltd.     

Differential diagnosis of a prehistoric biological object from the Koster (Illinois) Site

This paper details the differential diagnosis of a biological artifact recovered from a burial within the Koster Middle Archaic site in Illinois. The burial was excavated from the Middle Archaic 3, Helton Phase component (∼5800–4900 BP). The artifact was a calcified nodule of unequivocal biological origin recovered from the pelvic region of an adult (50+ years) female. Morphological and radiographic analysis of the object resulted in the consideration of 19 possible diagnoses; all but four could be eliminated. Possible interpretations of the object as a lithopaedion, calcified lymph node, amputated ovary or simple ovarian cyst are examined in detail. Of these, calcified lymph node or amputated ovary remain most probable. Copyright © 2003 John Wiley & Sons, Ltd.     

The prevalence of,and the relationship between some spinal diseases in a human skeletal population from London

The prevalence of osteoarthritis, osteophytosis, intervertebral disc disease and diffuse idiopathic skeletal hyperostosis (DISH) was determined in a group of skeletons excavated from the crypt of Christ Church, Spitalfields. Age-specific prevalence rates were calculated from the group of skeletons for which age at death was known from intact coffin plates. Osteoarthritis of the facet joints occurred most frequently in the cervical and upper thoracic regions and was also common in the lower lumbar spine. The disease was more frequently bilateral in the lumbar spine than in upper regions. Osteophytes were common in the thoracic and lumbar spines, whereas intervertebral disc disease was confined almost completely to the cervical region. Diffuse idiopathic skeletal hyperostosis seemed to be underrepresented in this group, but was more common in males than in females. Age correlated significantly with all the conditions except DISH. Multiple regression analysis was carried out using each of the conditions as the dependent variable in turn. Age accounted for more of the variance than any of the other conditions added as independent variables.     

A case of metastatic carcinoma from 18th century London

In 1999 the AOC Archaeology Group excavated the cemetery of All Hallows by the Tower, London, UK, prior to redevelopment. The majority of the burials are post‐medieval, dating from circa 1776 to 1835. Skeleton (4105) was buried with a lead coffin plate. The data on the coffin plate revealed that the skeleton was that of Ann Sumpter, who died aged 31 years on the 25 May 1794. The skeleton displays pathology that is indicative of a metastatic carcinoma. A precise diagnosis is not possible, but given the individual is female it is statistically most likely the secondaries have originated from a breast or lung tumour. Breast tumours are thought to have been more common than lung tumours in the past, and therefore the most probable diagnosis is a breast carcinoma. Copyright © 2006 John Wiley & Sons, Ltd.     

Porotic hyperostosis in a Late Upper Palaeolithic skeleton (Villabruna 1, Italy)

Porotic hyperostosis (PH) is a well‐recognised skeletal indicator of physiological stress occurring during the early years of childhood growth. Although frequently found starting from the Neolithic, PH is poorly documented among earlier Palaeolithic hunter–gatherers. This study reports a case of PH in a Late Upper Palaeolithic skeleton (Villabruna 1) from northern Italy. Macroscopic and radiographic examinations of the skeleton show symmetric porotic lesions of the cranial vault, hair‐on‐end appearance, thinning of the cortical bone, diploic expansion and very slight cribra orbitalia (CO). All lesions are highly remodelled and suggest a condition suffered long before death. A differential diagnosis, carried out in order to discriminate between infectious and acquired conditions, points to anaemia as likely aetiology for the changes observed. Absence of postcranial involvement, lesion healing and survival to adulthood suggest a diagnosis of acquired anaemia. Among acquired anaemias, both dietary and infectious models are discussed in light of the individual's skeletal characteristics, as well as geographic location, paleoenvironmental data, subsistence modality and dietary information. The combined analysis of these data suggests that parasitic infestation resulted in megaloblastic anaemia in this individual. Copyright © 2009 John Wiley & Sons, Ltd.     

Pre-Columbian congenital syphilis from the late antiquity in France

Today, exactly 500 years after the discovery of America, there is still a lot of controversy about the history of syphilis in Europe, especially about the Columbian and pre-Columbian hypotheses. This paper presents evidence for the presence of venereal treponematosis in the late Antiquity in France. The case that we examined comes from the necropolis of Costebelle (3rd-5th centuries AD; Hyères, Var, France). Grave no. 1 contained the well-preserved skeleton of a relatively old woman with the skeletal remains of an approximately 7-month-old fetus in her pelvic cavity. The osseous lesions of the fetal remains can be described in four groups: periosteal appositions on the skull vault (frontal and parietal); signs of periostitis on the long bones (bilateral cortical irregularities, predominantly on the left side, which affect first of all tibiae, femora, fibulae, radii and humeri, particularly in the metaphyseal region); some infraperiosteal detachment reminiscent of an infraperiosteal haematoma surrounding the distal extremity of the left forearm and the left hand; and finally, the irregular lesions of the humeral distal and proximal tibial metaphyses reminded us radiologically of Wimberger's signs. The most probable diagnosis of all the lesions mentioned above is that of a precocious congenital syphilis. This case consists of an argument against the epidemiological theories about the migration of Treponema pallidum from the New World back to the Old World starting at the end of the 15th century.