Massive periostosis in a child from Neolithic Gebel es-Silsileh, Egypt.

In 2015 a surprising find of human bone fragments from a child was made in a collection of the Egyptian Museum and Papyrus Collection, Berlin. These bone fragments from Southern Egypt date to 3400-3300 BC and represent the distal parts of both femora and the proximal parts of both tibiae (bones around the knee joint). The bones have a specific appearance, probably indicating a systemic disease. Due to the incomplete state of the skeletal remains, the distribution of the lesions throughout the entire skeleton could not be observed, thus preventing a better diagnosis of the underlying pathological process. The poor collagen preservation of the bone precluded aDNA testing for pathogens. The bone fragments were instead subjected to radiographic and microscopic analysis which revealed a recurrent periosteal process accompanied by a distinct osteoclastic component. A possible diagnosis might be an underlying unknown pathological process, leading to the development of a secondary Hypertrophic Osteoarthropathy (HOA).

Hypertrophic Osteopathy Associated with Mycotic Pneumonia in a Roe Deer ( Capreolus capreolus).

Aspergillus fumigatus is one of the most common Aspergillus species causing disease in individual animals but it rarely affects deer species. We report a case of A. fumigatus infection causing mycotic pneumonia and hypertrophic osteopathy in a roe deer ( Capreolus capreolus).

Secondary hypertrophic osteoarthropathy in a male from the Early Medieval settlement of Lauchheim, Germany.

Hypertrophic osteoarthropathy (HOA) is rarely diagnosed in archaeological human skeletons. Here, we report on the well-preserved skeleton of a middle-adult man from the early Medieval settlement site of Lauchheim (Germany) that exhibits pronounced multi-layered shell-like periosteal new bone formation in a bilaterally symmetric fashion on the long bones, the skeletal elements of the pelvis and those of the pectoral girdle. In addition, the two distal phalanges recovered show signs of osteoclastic resorption on their distal tuberosities. The distribution and morphology of the observed lesions are consistent with a diagnosis of HOA. The adult age at death of the individual and the co-occurrence of "healed" and "active" lesions suggest a secondary form of HOA. Given that only skeletal remains were available for study, the underlying (pulmonary or non-pulmonary) primary disease cannot be definitively ascertained in the present case. No osseous changes were found on the ribs, but signs of osteoclastic resorption were observed on the dorsal surface of the sternal body, which might indicate a retrosternal or mediastinal location of the primary disease. Thus far, only a few archaeological case studies of secondary HOA reported signs of the presumed underlying primary disease, which was of a pulmonary nature in each of the individuals.

Hypertrophic Osteoarthropathy on Bone Scintigraphy.

We present the case report of a patient with a history of lung cancer in whom the typical pattern of hypertrophic osteoarthropathy was seen on bone scintigraphy. We discuss the etiologies, pathophysiology, and management of this entity.

Hypertrophic osteoarthropathy in a young adult male from Berber, Sudan (2nd-3rd century CE).

Hypertrophic osteoarthropathy (HOA) is a pathological condition characterised by extensive periosteal new bone formation (NBF) on the diaphyses of the long bones, metacarpal and metatarsal bones. In modern clinical contexts, the secondary form of the disease is common and most often occurs secondary to intra-thoracic cancer and other forms of chronic pulmonary disease. Paleopathological evidence for HOA on the other hand has only occasionally been reported. Here we report a young adult male from the Meriotic cemetery at Berber in Sudan (2nd-3rd century CE) displaying widespread NBF on the diaphyses of the upper and lower limb bones, metacarpal and metatarsal bones, as well as the pelvis and scapulae. While several pathological conditions have to be considered as differential diagnostic options for NBF in the post-cranial skeleton, HOA is the most likely diagnosis, based on the distribution of the changes observed in this individual, as well as their macroscopic and radiographic characteristics. A chronic pulmonary condition as indicated by NBF on the visceral side of the ribs may represent the underlying cause for the HOA. This individual represents the first paleopathological case of HOA reported from an archaeological site in Africa.

Giant oesophageal gastrointestinal stromal tumour presenting with dyspnoea and clubbed fingers.

Gastrointestinal stromal tumours (GISTs) are mesenchymal neoplasms of the gastrointestinal tract originating from the interstitial cells of Cajal. Giant oesophageal GISTs are rare since the oesophagus is rarely the primary site of GISTs, and they are usually diagnosed early due to complaints such as dysphagia. We present the case of a giant oesophageal GIST presenting with prominent clubbing. The case underlined the diagnostic importance of clubbing and the careful consideration of chemotherapy. Although clubbed fingers associated with GISTs are rare, our experience demonstrates the importance of physicians' recognition of clubbing as a paraneoplastic phenomenon for early diagnosis of malignancies since patients seldom notice their own clubbing by themselves. Chemotherapy using imatinib, an Bcr-Abl kinase inhibitor, is the standard option for unresectable giant GISTs. However, careful consideration must be made of the risk of complications associated with rapid mass reduction due to imatinib such as bleeding, oesophageal perforation and mediastinitis.

Cutaneous manifestations of lung cancer.

Skin findings can serve as a clue to internal disease. In this article, cutaneous manifestations of underlying lung malignancy are reviewed. Paraneoplastic dermatoses are rare, but when recognized early, can lead to early diagnosis of an underlying neoplasm. Malignancy-associated dermatoses comprise a broad group of hyperproliferative and inflammatory disorders, disorders caused by tumor production of hormonal or metabolic factors, autoimmune connective tissue diseases, among others. In this review, paraneoplastic syndromes associated with lung malignancy are discussed, including ectopic ACTH syndrome, bronchial carcinoid variant syndrome, secondary hypertrophic osteoarthropathy/digital clubbing, erythema gyratum repens, malignant acanthosis nigricans, sign of Leser-Trélat, tripe palms, hypertrichosis lanuginosa, acrokeratosis paraneoplastica, and dermatomyositis.

[Pulmonary MALT lymphoma and paraneoplastic syndromes]. / Lymphome du MALT pulmonaire et syndromes paranéoplasiques.

INTRODUCTION: Primary pulmonary lymphoma is a rare disease; diagnosis is often delayed because of atypical clinical presentation and slow progression. OBSERVATION: A 42-year-old woman consulted because of haemoptysis. Chest CT-scan showed multiple nodular calcified masses. A lung biopsy led to the diagnosis of pulmonary amyloidosis with pulmonary MALT lymphoma (mucosa-associated lymphoid tissue). The patient developed two paraneoplastic syndromes: a hypertrophic osteoarthropathy and mucinosis. CONCLUSION: Multiple nodular amyloidosis can be a mode of presentation for pulmonary lymphoma. Paraneoplastic syndromes must be systematically considered and can help in early diagnosis of the disease and its relapse.

Clubbing and hypertrophic osteoarthropathy: insights in diagnosis, pathophysiology, and clinical significance.

BACKGROUND: Digital clubbing and hypertrophic osteoarthropathy (HOA) form a diagnostic challenge. Subtle presentations of clubbing are often missed. The underlying pathophysiology remains unclear. Establishing a differential diagnosis based on nonspecific signs can be cumbersome. Finally, the prognostic value of clubbing and HOA remains unclear. OBJECTIVE: This article reviews clinical criteria and pathophysiology of clubbing and HOA. A diagnostic algorithm is proposed, based on etiology and current insights. The prognostic impact on associated diseases is discussed. METHODS: The Internet databases Medline and Embase were searched. Articles were selected based on relevance of abstract, article type and impact of the journal. RESULTS: Diagnostic criteria include Lovibond's profile sign, distal/interphalangeal depth ratio and Schamroth's sign. Three pathophysiological causes of clubbing can be distinguished: hypoxia, chronic inflammation and aberrant vascularization. A prominent role for vascular endothelial growth factor is suggested. Associated symptoms and clinical signs should guide the initial diagnostic evaluation. Finally, clubbing is a negative prognostic factor in certain pulmonary disorders, including cystic fibrosis.

Hypertrophic Pulmonary Osteoarthropathy in Anaplastic Lymphoma Kinase (ALK)-positive Lung Cancer.

A 49-year-old man was admitted to a hospital with chest pain and polyarthralgia. Chest radiography showed abnormal findings, and chest computed tomography showed a mass in the right lung. A transbronchial lung biopsy led to a diagnosis of anaplastic lymphoma kinase (ALK)-positive adenocarcinoma. Bone scintigraphy revealed bilateral symmetrical accumulations of (99m)Technetium complexes in the long bones, suggesting co-existing hypertrophic pulmonary osteoarthropathy (HPO). The patient underwent four courses of chemotherapy with cisplatin plus pemetrexed, which led to decreased (99m)Technetium accumulations in the long bones. To the best of our knowledge, this is the first reported case of HPO associated with ALK-positive lung cancer.