Bone Cements ; Femur ; pathology ; Humans ; Osteolysis, Essential ; therapy ; Syndrome

Objective: To investigate the clinicopathological features, clinical manifestations and different diagnosis of patients with complicated lymphatic anomaly. Methods: The clinical and pathologic data of four patients with complicated lymphatic anomaly diagnosed and treated in Peking Union Medical College Hospital from January 2000 to December 2021 were collected and analyzed. Results: One Gorham-Stout disease case and three generalized lymphatic anomaly cases were included in this cohort. Patients' ages ranged from 7 to 32 years. There were three males and one female. The positions of biopsy included three bone biopsy and one bronchus biopsy. Microscopically, all cases showed diffuse enlarged lymphatic channels. At the same time, osteogenesis was obvious in Gorham-Stout disease case. Radiologically, cortical loss was seen in Gorham-Stout disease, and lytic bone confined to the medullary cavity presented in generalized lymphatic anomaly. The three generalized lymphatic anomaly cases also had coagulopathy, and two had effusion. Conclusions: The histologic feature of complicated lymphatic anomaly was diffuse lymphatic malformation, and the diagnosis depends on clinical and pathologic information. The treatment and prognosis of these diseases are different, and therefore it is necessary to understand their clinical and pathologic features and make the correct diagnosis.
Male ; Humans ; Female ; Child ; Adolescent ; Young Adult ; Adult ; Osteolysis, Essential/pathology* ; Lymphatic Abnormalities/surgery* ; Bone and Bones/pathology* ; Diagnosis, Differential ; Prognosis

We report a case of mediastinal lymphangioma associated with Gorham's disease in a 38-year-old man who had suffered recurrent clavicular fractures during a seven-year period. Mediastinal widening associated with osteolysis of the clavicles and the sternal manubrium was revealed by chest radiography, while computed tomography demonstrated a cystic anterior mediastinal mass infiltrating mediastinal fat and associated with osseous destruction of the clavicles and manubrium. Chylothorax recurred during the course of the disease.
Adult ; Case Report ; Chylothorax/*complications ; Human ; Lymphangioma/*complications/radiography ; Male ; Mediastinal Neoplasms/*complications/radiography ; Osteolysis, Essential/*complications/pathology/radiography ; Thoracic Vertebrae/*pathology ; Tomography, X-Ray Computed

A 25-yr-old woman presented with a right pleural effusion. Destruction of 9th through 12th ribs, adjacent vertebral bodies, and transverse processes was noted on plain radiograph and a large low-attenuated, irregular shaped mass lesion with peripheral rim enhancement, destroying vertebral body and transverse process, was revealed on the computed tomographic scan. Magnetic resonance imaging showed high signal on T1- weighted image and iso- and low signal on T2-weighted image for the mass lesion replacing the vertebral bony cortex and marrow space. An open rib biopsy revealed the histopathological changes of Gorham's disease (essential osteolysis), even though only bloody fluid filling the empty space and rib and vertebral transverse process destruction were grossly observed on operation. Even though there was no definite response to radiotherapy and pleurodesis, the patient showed stable condition up to 20 months after diagnosis.
Adult ; Chylothorax/complications/*pathology/radiotherapy ; Female ; Humans ; Magnetic Resonance Imaging/methods ; Osteolysis, Essential/complications/*pathology/*radiotherapy ; Pleurodesis ; Time Factors ; Tomography, X-Ray Computed ; Treatment Outcome

A patient with a 2-year history of pain in the left arm, and decreased strengths unrelieved by non-steroidal anti-inflammatory therapy, was being referred for repeating radiography. The radiologic examinations have demonstrated a unique pattern of non-contiguous osteolysis in the left elbow, proximal and distal radius, ulna, wrist, carpal bones, proximal and distal metacarpals and phalanges. Multi-site biopsies were being performed and confirmed the diagnosis of massive osteolysis. To our knowledge, this is the first case in which multifocal, non-contiguous osteolysis with skip lesions without associated nephropathy and without a hereditary pattern is being described in one extremity.
Adult ; Biopsy, Fine-Needle ; Diagnosis, Differential ; Humans ; Magnetic Resonance Imaging ; Male ; Osteolysis, Essential/*diagnosis ; Tomography, X-Ray Computed/*methods ; Ulna/*pathology/radiography

OBJECTIVETo explore clinical, radiographical and genetic characteristics of classical Hutchinson-Gilford progeria syndrome (HGPS).

METHODData of a case of HGPS diagnosed at Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology was analyzed and related literature was reviewed.

RESULTAt the age of 8 months, the affected-infant presented with characteristic manifestation such as short stature, low weight, frontal bossing, alopecia, prominent scalp veins, micrognathia with a vertical midline groove in the chin, sclerodermatous skin, knee joints contracture with a horse-riding stance, and limited range of movement of ankle joints. Blood test showed blood platelet count (416-490) ×10(9)/L. Lower extremities MRI showed reduced subcutaneous fat. LMNA gene analysis showed that the affected-infant carried typical heterozygous mutation: c. 1824C>T (p. G608G), while his parents were normal. At the age of 13 months, X-rays showed short distal phalanges and clavicles with acro-osteolysis. After following up for 15 months, his appearance of progeria became more apparent. As far as we know, there are only 2 cases of classical HGPS confirmed by gene analysis in China.

CONCLUSIONClassical HGPS should be considered when infants appeared with sclerodermatous skin. Genetic analysis could help to diagnose classical HGPS as early as possible and avoid unnecessary investigations. In addition, affected-infants need to be long term followed-up and provided genetic counseling.

Abnormalities, Multiple ; diagnosis ; pathology ; DNA Mutational Analysis ; Diagnosis, Differential ; Hand ; diagnostic imaging ; pathology ; Humans ; Infant ; Lamin Type A ; genetics ; Lower Extremity ; diagnostic imaging ; pathology ; Male ; Mutation ; genetics ; Osteolysis, Essential ; pathology ; Progeria ; diagnosis ; genetics ; pathology ; Retrospective Studies ; Skin Diseases ; diagnosis ; genetics ; pathology ; Tomography, X-Ray Computed