Dystrophic Dwarfism

Two cases of diastrophic dwarfism in early school age children and a variant of diastrophic dwarfism in an infant are described. One of the children, a 61/2 year old girl, showed a rare but dangerous complication—cervical spine kyphosis. The importance of early diagnosis and the difficulties in management of the condition are stressed.     

Rare,Primary Iliac,Pubic and Ischial Tumours in Children (Report of 14 Cases) — Part II

14 cases of rare, primary iliac, pubic and ischial bone tumours or tumorous conditions are reported. These include aneurysmal bone cyst, eosinophilic granuloma, cavernous haemangioma, osteoid osteoma, fibrous dysplasia, fibrous dysplasia with sarcomatous degeneration, chondrosarcoma, lymphoma and atypical malignant histiocytosis. The possibilities to be considered in the accurate radiographic recognition of primary tumours of iliac, pelvic and ischial bones are discussed.     

Rhizomelic Bone Dysplasia with Club-like Femora (Case report and confirmation of a syndrome)

A newborn with rhizomelic bone dysplasia with club-like femora is reported. This is the fourth case Of this easily recognizable, recently reported, congenital bone disease. Maroteaux et al recently reported two patients with rhizomelic bone dysplasia and club-like femora as a distinctive new bone dysplasia. Their observation was confirmed by Gugliantini et al (2) who reported another case. This paper reports a fourth patient with this easily recognisable disorder.     

Abnormal modelling of the humeral head in the tricho‐rhino–phalangeal syndrome: A new radiological observation

The case of a 27‐year‐old female patient with tricho‐rhino‐phalangeal (TRP) type I syndrome is reported. The patient demonstrated the classical features of slowly growing hair, a bulbous nose and brachydactyly with swelling at the interphalangeal joints, but in addition showed some of the less common manifestations such as supernumerary teeth and prognathism. To the authors’ knowledge this is the first reported case in which modelling abnormalities of the proximal humerus mirror those seen in the femoral head. This adds weight to the argument that the skeletal abnormalities in TRP are part of a generalized bone dysplasia.     

Dutch variant of Bellini metaphyseal dysplasia: Report of two siblings

Two sibling girls with cone-shaped knee epiphyses and metaphyses are described. Bone dysplasia with this rare, distinctive, radiographic finding, was first reported by Bellini and Bardare with only few cases reported thereafter. Velores et al. divided bone dysplasias with cone-shaped epiphyses and metaphyses of the knee in two entities which they named trichoscyphodysplasia and metaphyseal acroscyphodysplasia. Although the authors agree that there is more than one bone dysplasia that presents with these distinctive radiographic knee appearances, they consider that too few cases have been reported to satisfactorily classify this group of disorders.     

Cloverleaf Skull and Bone Dysplasias (Report of four cases)

Four newborns with cloverleaf skull – one with elbow synostoses, one with thanatophoric dysplasia and two with a generalised bone dysplasia are reported. The syndromic relationship of cloverleaf skull deformity is discussed, specifically that between cloverleaf deformity with thanatophoric dysplasia and cloverleaf deformity with generalised bone dysplasia which is different from both achondroplasia and thanatophoric dysplasia. The diagnosis “thanatophoric dysplasia with cloverleaf deformity” should be strictly applied to the rare cases of cloverleaf skull which show generalised bone changes characteristic for this syndrome. CLOVERLEAF SKULL (CS) is an easily recognised anomaly. Its associations with other skeletal anomalies is well known. There is however confusion between cases of CS with generalised bone dysplasias. The purpose of this paper is to clarify this latter problem as well as to report four new cases of this rare anomaly.     

纤维结构不良恶性变一例报告并文献复习

目的：探讨纤维结构不良恶变的临床病理特征及其诊断和鉴别诊断。方法：分析了1例纤维结构不良骨肉瘤变患的临床表现，放射学及病理形态学的特征，并就病因及鉴别诊断等问题进行了讨论。结果：纤维结构不良发生恶变是一种罕见病变，其诊断必须依赖于临床、放射、病理三的结合。     

先天性马蹄内翻足致病基因的研究进展

先天性马蹄内翻足（congenital clubfoot,CCF）是一种常见的严重影响足的形态与功能的先天性畸形,占足部畸形的85％,发病率全世界约为1‰,男女比例约为2～2．5：1。中国人患病率为0．39‰,夏威夷人和毛利人为7‰,高加索人约为1．2‰,波利尼西亚人约为6．8‰,不同种族患病率不同。CCF患者同胞患病几率增加约30倍。两位同胞同时患病在单卵双生中的几率高达32．5％,而在双卵双生中仅为2．9％。上述研究表明CCF的发生与遗传因素密切相关,目前认为,CCF的发生是遗传因素与环境因素共同作用的结果,近年研究报道显示,CCF发病与几类相关基因的改变有着密切的联系。现就CCF致病基因研究进展综述如下。     

A multiplex tissue immunoblotting assay for proteomic profiling: a pilot study of the normal to tumor transition of esophageal squamous cell carcinoma.

Esophageal cancer remains a highly lethal malignancy for which the genetic and proteomic events are poorly understood. Studies have reported dysregulated proteins in esophageal carcinoma; however, the magnitude of these changes remains largely uncharacterized. Little is known about alterations early in the neoplastic pathway. Using multiplex tissue immunoblotting, we quantified the expression of seven proteins in esophageal carcinogenesis. Regions of normal, dysplasia, and invasive carcinoma of the squamous esophagus in six patients were characterized. Pan-cytokeratin (CK) was essentially unchanged across the transition (0.96 in dysplasia and 0.69 in tumor). Expression levels of annexin 1, CK-4, and CK-14 were all decreased in dysplasia and tumor compared with normal (reference, 1.00): annexin 1, 0.30 in dysplasia and 0.15 in tumor; CK-4, 0.20 in dysplasia and 0.16 in tumor; and CK-14, 0.54 in dysplasia and 0.40 in tumor. Expression of two proteins was increased in dysplasia and tumor versus normal: cyclooxygenase-2, 1.35 in dysplasia and 2.32 in tumor and p53, 1.29 in dysplasia and 2.37 in tumor. Secreted protein, acidic and rich in cysteine, which is expressed in the adjacent stroma, was 1.56-fold higher in stroma underlying dysplasia and 6.20-fold increased in dysplastic stroma surrounding invasive tumor. These findings suggest that changes in protein expression can be detected during the transition to dysplasia and may be useful biomarkers.     

Haemorrhagic cystic sino-nasal fibrous dysplasia

A 9 years old boy reported with left nasal blockage, occasional left nasal bleeding, protruding left eye ball and widening of the nasal bridge for the last nine months. Clinical examination and radiological evaluation were suggeitive of fibrous dysplasia. Mass was excised by transfacial and transcranial approach. Histopathology of the excised muns proved to be a case of haemorrhagic cystic sino-nasal fibrous dysplasia.     

Carcinoma of the Esophagus Developing in Lye Stricture: A Case Report

A case of esophageal carcinoma occurring 29 years after a lyeburn at the age of five was reported. A detailed examinationusing total serial sections of the resected esophagus revealeda small lesion of invading squamous cell carcinoma in the areaof the stricture. This carcinoma was surrounded by severe tomild dysplasia, highly suggesting that the dysplasia was a precancerouslesion of the esophageal carcinoma caused by a chronic stimulationdue to the stricture.     

Spondylo-Costal Dysplasia — Severe and Moderate Types (Report of 8 Cases)

Eight cases of spondylo-costal dysplasia, three of severe and five of moderate types are described. In the author's opinion spondylocostal dysplasia represents a group of genetically different diseases characterised radiologically by malsegmentation of the spine and dysplastic/hypoplastic changes of the ribs. Spondylo-costal dysplasia is a relatively common finding in severe forms of myelomenuigocoele.     

Association of skin and other lesions with cervical dysplasia

Association is reported in a series of 805 patients between cervical dysplasia and the occurrence of lesions in other organs, in particular the skin. The occurrence of associated lesions in these patients was markedly in excess of that in case-matched controls. It was not related to the increased frequency of gynaecological investigation in patients with cervical dysplasia. Pigmented naevi were the most common associated lesions, occurring before and after the diagnosis of cervical dysplasia. Three cases of malignant melanoma were seen in the test group. Gynaecological lesions were also common. The findings are discussed in the light of recent work on viral synergism in genital neoplasia.     

Mesomelic dysplasia: Langer type

Two patients with Langer type mesomelic dysplasia are reported. This is one of the rare but well differentiated and easily recognizable mesomelic dysplasias.     

Metatropic Dysplasia and its Variants (Analysis of 14 Cases)

METATROPIC DYSPLASIA is a spondylo-epi-metaphyseal dysplasia with characteristic clinical and radiographic features. 37 cases of the disorder were reported up to 1983 accordingly to Beck et al. 14 cases of spondylo-epi-metaphyseal dysplasia of metatropic variety from 9 paediatrk institutions have been analysed. Radiologically and clinically we discern four groups of patients with features of metatropic dysplasia. 1. A lethal, pen-natal type, 2. An autosomal recessive type with diagnostic radiographic findings and often fatal outcome in the first few years of life, 3. A rare dominant type, 4. A mild type consistent probably of different spondylo-epi-metaphyseal dysplasias which show mild metatropic changes. (Metatropic Dysplasia Variants).     

Efficacy of Glucose Starvation of Cancer Cells in the Progress of Oral Squamous Cell Carcinoma Induced in Hamster

Background and aim of the study: Oral squamous cell carcinoma (OSCC) is the most common form of oral cancer, showing poor prognosis and high mortality. Meanwhile, cancer metabolism is an essential contributor to its progression and response to treatment. This research aims to investigating the effect of a glucose-rich and glucose-free diet on the progress of oral squamous cell carcinoma induced in hamsters. Materials and Methods: forty Syrian Hamsters were incubated in two groups. The first one consisted of twenty hamsters, in which the carcinogenic material (DMBA) was applied in the buccal pouch of the hamster three days per week with a glucose-rich diet). The second one was composed of twenty hamsters, in which the carcinogenic material (DMBA) was applied in the buccal pouch three days per week with a glucose-free diet). Hamsters in both groups were sacrificed in groups of five hamsters at a time and at intervals (two weeks, six weeks, ten weeks, and Fourteen weeks). A histological study was performed after conventional staining with hematoxylin and eosin was done. Results: After two weeks of the experiment hyperplasia, mild dysplasia, and moderate dysplasia were recorded in hamster buccal pockets with a glucose-rich diet, and after six weeks moderate dysplasia, severe dysplasia, and carcinomas in situ were recorded, after ten weeks severe dysplasia, carcinomas in situ, and OSCC, after fourteen weeks OSCC were recorded. While with a glucose-free diet Hyperkeratosis, hyperplasia, and mild dysplasia were observed after a two-week the experiment,  after six weeks, mild dysplasia, moderate dysplasia, and severe dysplasia were recorded, after ten weeks, moderate dysplasia, severe dysplasia, and carcinoma in situ, after fourteen weeks Severe dysplasia, carcinoma in situ, and OSCC were reported. Conclusion: our results showed that a glucose-free diet slightly prevents oral squamous cell carcinoma, It may be a supportive treatment in addition to conventional cancer treatment.     

Fibrous dysplasia of the sphenoid sinus in an adolescent male.

Fibrous dysplasia involving the sphenoid sinus and the entire left sphenoid bone, manifested clinically by left proptosis and frontal headaches, was diagnosed in a 13-year-old black male. The case is unusual since it is only the third reported instance of fibrous dysplasia of the sphenoid sinus, and because the disease became clinically apparent at the onset of puberty in the patient. Since previous reporters have suggested that fibrous dysplasia remains stable or progresses slightly after the onset of puberty, the patient was not treated with radical surgery, but instead was observed closely. At this point, one year following admission, the patient's proptosis has disappeared and his symptoms are markedly improved.     

p53 in esophageal adenocarcinoma: a critical reassessment of mutation frequency and identification of 72Arg as the dominant allele

p53 alterations have been implicated in the progression of Barrett's esophagus to esophageal adenocarcinoma. However, the wide range of reported p53 alteration frequencies in esophageal adenocarcinoma makes using p53 as a marker of malignant transformation of Barrett's esophagus problematic. To determine the utility of p53 in Barrett's esophagus monitoring, the frequency of p53 alteration was critically reassessed using esophagectomy specimens of 40 cases of esophageal adenocarcinoma, including 10 with Barrett's esophagus and high-grade dysplasia, 8 with low-grade dysplasia and 7 with no dysplasia. DNA was extracted from tumor cells isolated by laser capture microdissection to maximize the assay sensitivity and mutations in exons 4-8 of p53 were determined by PCR direct sequencing. Mutations in p53 were identified in 75% (30/40) of the esophageal adenocarcinoma. p53 protein overexpression, detected by immunohistochemistry, was found in 58% (23/40) of the esophageal adenocarcinoma, 60% (6/10) of Barrett's esophagus with high-grade dysplasia, 12% (1/8) of Barrett's esophagus with low-grade dysplasia, and 0% of Barrett's esophagus without dysplasia. In addition to the mutations, a predominance of the 72Arg allele (89% homozygous) was found over the 72Pro allele in this series. p53 mutation frequency in this study was higher than reported in most of the literature and DNA sequencing detected more p53 alterations than immunohistochemical staining. However, p53 appeared to be a late marker in the neoplastic transformation, and no p53 change was found in approximately 25% of the adenocarcinoma. We concluded that p53 is insufficient as a single marker for Barrett's esophagus monitoring but may be useful as part of a panel due to its high specificity.     

Fibrous dysplasia of the skull with acromegaly and sarcomatous transformation

Summary Two cases of fibrous dysplasia of the skull are reported. Both patients were young women with acromegaly and were treated with radiotherapy. Progressive pareses of cranial nerves, pain, and a malignant course of the disease were characteristic in both patients, and the diagnosis of osteogenous sarcoma proved in one of them by histological examination.The clinical picture of fibrous dysplasia of the skull and the role of radiotherapy with the risk of development of malignancy is discussed.