Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.

The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C.), in a Hellenistic statuette (Smyrna, 323 B.C.), in the coinage of the Parthians kings (247 B.C.) and in some 13th century monks' drawings. These earlier examples are somewhat less well defined as compared to the most recent better defined reports credited as having NF1 including an Inca child mummy (1480-1650 AD), Ulisse Aldrovandi's homuncio ("Monstrorum Historia", 1592 A.D.) with mosaic NF1 or the illustrations seen in the 18th century "Buffon's Histoire Naturelle" and "Cruveilhier's Anatomie Pathologique du Corps Human". The first English language report on NF1 was made by Akenside in 1768 and the first systematic review by Robert William Smith in 1849, while Virchow's pupil, Friedrich Daniel von Recklinghausen, in 1882, was the first to understand the origin of skin tumors and to name them neurofibromas. The touching story of Joseph C. Merrick (the "Elephant man," (who had Proteus syndrome and not NF1), in 1884, played an important role in the later misconception of NF1, as did the novel by Vicotr Hugo on the hunchback Quasimodo. The studies by van der Hoeve (1921), Yakovlev and Guthrie (1931), and Van Bogaert (1935), categorized "von Recklinghausen's" neurofibromatosis among the phakomatoses and the neurocutaneous syndromes. The first known mention of an acoustic neuroma (at autopsy) is attributed to Eduard Sandifort (1777 AD) while John H. Wishart made the earliest autoptic description of neurofibromatosis type 2 (NF2), in 1822, in a 21-year-old man with bilateral acoustic neuromas, who manifested signs since his infancy (Wishart subtype NF2). Smith likely described the first case of schwannomatosis in 1849. Older, Virchow, von Recklinghausen, and Verocay first classified "neuromas" and Masson and Penfield first used the word "schwannoma" taking it from Theodore Schwann's works. In 1903 Henneberg and Koch described NF2 in detail. Young, Eldridge, and Gardner, in the late '70, established NF2 as a distinct familial entity (Gardner subtype NF2). Schwannomatosis, the late entry of the different forms of neurofibromatosis, was credited in the middle '90.

Paleopathology and Paleomicrobiology of Malaria.

Malaria is a disease caused by parasites of the genus Plasmodium, transmitted through the bites of female anopheles flies. Plasmodium falciparum causes severe malaria with undulating high fever (malaria tropica). Literary evidence of malarial infection dates back to the early Greek period, when Hippocrates described the typical undulating fever highly suggestive of plasmodial infection. Recent immunological and molecular analyses describe the unambiguous identification of malarial infections in several ancient Egyptian mummies and a few isolated cases in Roman and Renaissance Europe. Although the numbers of cases are low, there is evidence that the overall infection rates may have been relatively high and that this infectious disease may have had a significant impact on historical populations.

Wall paintings facies and their possible genetic correlates in the ancient Pompeii: A bio-anthropologic message from the past?

The figurative arts and precisely the ancient Pompeian wall paintings portraits can provide an additional source of information in supplementing bio-anthropological studies. There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to distinctive facial features. Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1. The Gorlin syndrome, clinically defined in 1963, existed during Dynastic Egyptian times, as revealed by a spectrum of skeletal findings compatible with the syndrome in mummies dating back to three thousand years ago and, most likely, in the ancient population of Pompeii. In the present research, we discuss the potential relationship between Pompeian wall paintings portrait and the cranio-metric bone changes revealed among the Pompeian skull collections assuming that the ancient portraits can constitute an important tool that should be strictly integrated with osteologic and biomolecular data in order to argue a syndromic diagnosis in ancient population.

Endocranial hyperostosis in Sangiran 2, Gibraltar 1, and Shanidar 5.

Sangiran hominid 2 (S-2), Gibraltar hominid 1 (G-1), and Shanidar hominid 5 (SH-5) exhibit previously undescribed bilateral, paramedian hyperostosis of the endocranial frontal squama that spares the frontal crest, sagittal sinus, and ectocranial surface. The hyperostosis is localized to the frontal (usually the middle third) and parietal and is consistent with a diagnosis of hyperostosis calvaria interna (HCI), inclusive of hyperostosis frontalis interna. The hyperostosis in these specimens is compared to fossil hominids from Indonesia and Europe and to modern human cases of HCI. The three cases of HCI reported here documented the existence and frequency of HCI in fossil hominids and push the antiquity of the disease back to nearly 1.5 million years. The relatively great incidence of HCI in fossil hominids adds another confounding factor to the problematical issue of the taxonomic significance of cranial vault thickness.