Progressive Diaphyseal Dysplasia: Genetics and Clinical and Radiologic Manifestations

PEDIATRICS ◽  
1984 ◽  
Vol 74 (3) ◽  
pp. 399-405
Author(s):  
Yehezkel Naveh ◽  
Joseph K. Kaftori ◽  
Uri Alon ◽  
Jacob Ben-David ◽  
Moshe Berant
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Generation Family ◽  
Progressive Diaphyseal Dysplasia ◽  
Radiographic Screening ◽  
Osteosclerotic Dysplasia ◽  
Structural Deformity ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Progressive diaphyseal dysplasia was found in a three-generation family including 13 affected individuals, the largest family reported to date. Our study confirms that progressive diaphyseal dysplasia, also known as Engelmann's or Camurati-Engelmann disease, is an autosomal dominant disorder with variable osseous and muscular manifestations. Disease distribution among patients, within a given patient, or even in individual bones is unpredictable. The femur is the most commonly and severely affected bone and hence most useful for radiographic screening of possible patients. Radiographs provide a meaningful assessment of disease activity and extent. The severity of symptoms is generally proportionate to severity of involvement shown by roentgenography. Exophthalmos due to osteosclerotic dysplasia of the skull occurred in more than half of the patients with progressive diaphyseal dysplasia. Twelve-year follow-up of this family, with affected individuals ranging in age from 6 months to 12 years, indicates that progressive diaphyseal dysplasia may progress or become quiescent and be remarkably inactive despite advanced osteosclerosis and structural deformity.

Endocrine Manifestations of von Hippel–Lindau Disease

2015 ◽  
Vol 139 (2) ◽  
pp. 263-268 ◽  
Author(s):  
Clarissa Cassol ◽  
Ozgur Mete
Keyword(s):  
Neuroendocrine Tumors ◽  
Autosomal Dominant ◽  
Suppressor Gene ◽  
Autosomal Dominant Disorder ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Sporadic Cases ◽  
Vhl Disease

von Hippel–Lindau (VHL) disease is an autosomal dominant disorder caused by heterozygous mutations in the VHL tumor suppressor gene that is characterized by the occurrence of multiple endocrine and nonendocrine lesions. This review focuses on the endocrine manifestations of VHL disease. Pancreatic neuroendocrine proliferations (ductuloinsular complexes, islet dysplasia, endocrine microadenoma, and neuroendocrine tumors), pheochromocytomas, and extra-adrenal paragangliomas are important endocrine manifestations of VHL disease. They frequently display characteristic clinical, biochemical, and histopathologic features that, although not pathognomonic, can be helpful in suggesting VHL disease as the underlying etiology and distinguishing these tumors from sporadic cases. Recent improvements in treatment and outcomes of renal cell carcinomas have allowed pancreatic neuroendocrine tumors to emerge as a significant source of metastatic disease, making the accurate recognition and classification of these neoplasms by the pathologist of utmost importance to determine prognosis, treatment, and follow-up strategies for affected patients.

scholarly journals Radiofrequency for Treatment of Refractory Epistaxis in Hereditary Hemorrhagic Telangiectasia

2018 ◽  
Vol 31 (1) ◽  
pp. 63
Author(s):  
Mariana Donato ◽  
João Pimentel ◽  
Rui Cabral ◽  
Pedro Escada
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Standard Procedure ◽  
Recurrent Bleeding ◽  
Bleeding Tendency ◽  
Autosomal Dominant Disorder ◽  
Acute Bleeding ◽  
Significant Interference

Hereditary hemorrhagic telangiectasia is a rare multi-systemic autosomal dominant disorder characterized by dysplasia of the vascular connective tissue and recurrent bleeding tendency. Epistaxis is the most common and earliest symptom. It is usually mild to moderate, however, in some patients it can be severe with significant interference in quality of life. We report a case of a patient with hereditary hemorrhagic telangiectasia, in which an episode of refractory epistaxis was treated with radiofrequency and fibrin sealant. Control of acute bleeding and elimination of telangiectasia was possible with this technique. After six months follow-up, there was no epistaxis recurrence. Various treatments for epistaxis in this disease have been described in the literature, but there is no consensus about the gold-standard procedure. Radiofrequency ablation of telangiectasia is a recent technique that has shown to be safe, effective and well tolerated, even in patients who underwent other previous treatments.

scholarly journals Clinical Characteristics And Identification of Novel TGF-β1 Mutation In Three Unrelated Chinese Families With Progressive Diaphyseal Dysplasia

2021 ◽  
Author(s):  
Xiao-Hui Tao ◽  
Xing-Guang Yang ◽  
Zi-Yuan Wang ◽  
Yang Xu ◽  
Zhen-Lin Zhang ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Clinical Characteristics ◽  
Novel Mutation ◽  
The Novel ◽  
Chinese Families ◽  
Progressive Diaphyseal Dysplasia ◽  
Exon 4 ◽  
Diaphyseal Dysplasia ◽  
Tgf Β1

Abstract BackgroundTo investigate the clinical characteristics and molecular diagnosis of progressive diaphyseal dysplasia (PDD) in three unrelated Chinese families. MethodsThe present study recruited six patients aged 14 to 45 from three unrelated families with PDD, including five females and one male. Clinical manifestations, biochemical tests, radiographic examinations were analyzed and the TGF-β1 gene mutation was further identified by Sanger sequencing. In addition, data of treatment and follow-up were also collected.ResultsThe onset age of the patients ranged from 1 to 6 years. All the affected patients had family histories and were consisted with autosomal dominant inheritance pattern. All of them exhibited gait disturbance, fatigue, progressive bone pain, as well as muscle atrophy and weakness in limbs. Notably, there was one 15-year-old girl who experienced heart valve defects and tachycardia at birth. Laboratory examinations revealed the inflammatory markers were in high level, besides the extremely increased bone metabolism indicators. The thickened diaphysis of long bones and the narrowed medullary cavity were observed by radiography. Furthermore, radionuclide bone scan detected abnormal symmetrical radioactive concentration in the affected regions of bone. Sanger sequencing identified a missense heterozygous mutation in exon 4 of TGF-β1 gene, resulting in R218C, which confirmed PDD eventually. More important, a novel mutation c.669C>G in exon 4 of TGF-β1 gene harboring C223W were detected in family 3. Subsequent bioinformatics software predicted that the novel mutation was pathogenic. Our study also showed that zoledronic acid was not effective in the control of bone turnover markers and the relief of bone pain in patients with PDD.ConclusionIn addition to the typical PDD manifestations, the new phenotypic characteristics such as tachycardia and heart valve defect were firstly reported in one female patient carried the novel mutation p.Cys223Trp in TGF-β1 gene. In addition, our study indicated that the increased bone metabolism indicators and inflammatory markers may possess auxiliary diagnosis for PDD. More importantly, zoledronic acid was used to treat PDD patients in this study. After one-year follow-up, it was proved that the drug effect was not satisfactory, and new drugs need to be developed to treat the disease.

Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia)

2008 ◽  
pp. 53-57
Author(s):  
Lester E. Wold ◽  
K. Krishnan Unni ◽  
Franklin H. Sim ◽  
Murali Sundaram ◽  
Claus-Peter Adler
Keyword(s):  
Progressive Diaphyseal Dysplasia ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Camurati-Engelmann disease type II: Progressive diaphyseal dysplasia with striations of the bones

2002 ◽  
Vol 107 (1) ◽  
pp. 5-11 ◽  
Author(s):  
Gen Nishimura ◽  
Hitoshi Nishimura ◽  
Yoko Tanaka ◽  
Yoshio Makita ◽  
Shiro Ikegawa ◽  
...  
Keyword(s):  
Disease Type ◽  
Type Ii ◽  
Progressive Diaphyseal Dysplasia ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease
Sign in / Sign up

Export Citation Format

Share Document