Diagnosis, Differential ; Histiocytosis, Sinus/diagnostic imaging* ; Humans ; Skin Diseases/diagnostic imaging*

HFUS is ultrasound whose frequency is higher than 10MHz. HFUS imaging features very high resolution, which is up to 20 microm. HFUS is used to check the superficial organs such as eye ball and skin with extremely high resolution. When applied to small animals, HFUS is able to scan the body and the embryo in microscopic scale. The blood flow information in microcirculation can be detected if the high frequency Doppler technology is applied. Convenience, simplicity, real time and high resolution of HFUS have lead to a significant role in biomedical research and clinical applications.
Animals ; Equipment Design ; Eye Diseases ; diagnostic imaging ; Humans ; Image Enhancement ; instrumentation ; methods ; Mice ; Microscopy ; methods ; Rats ; Sensitivity and Specificity ; Skin Diseases ; diagnostic imaging ; Ultrasonography ; instrumentation ; methods

OBJECTIVETo improve the recognition of the clinical presentation and radiologic manifestation of children with Langerhans cell histiocytosis (LCH) with pulmonary involvement.

METHODA retrospective analysis was conducted on children who presented with respiratory symptoms or abnormal lung radiologic findings, and finally diagnosed with LCH in Ward 2 of Divison of Respiratory Diseases, Beijing Children's Hospital during the last 4 years.

RESULTFourteen children (10 boys and 4 girls) were included in this study. Male to female ratio was 2.5: 1. The median age was 1.3 years. Pulmonary involvements were coexisted with other involved organs in all the patients, such as skin (10 cases, 71%), liver (8 cases, 57%), and bone involvement (7 cases, 50%). The most common symptoms were cough and fever (7 cases, 50%). Respiratory symptoms were nonspecific, and 3 children had no respiratory symptom but abnormal findings on lung high-resolution CT (HRCT). The most common HRCT finding was the coexistence of nodules and cysts (6 cases, 43%). Other findings include cysts only (5 cases, 36%), nodules only (1 case), and with neither nodule nor cyst (2 cases, 14%). Pneumothorax was found in 7% of children.

CONCLUSIONPulmonary involvement in children with LCH is easily misdiagnosed, and often coexisted with other involved tissues/organs such as skin and liver. Rash, which is easily missed in physical examination is very important for the diagnosis of LCH. The characteristic findings of lung HRCT (nodules and/or cysts) are helpful for diagnosis.

Child ; Cough ; etiology ; Cysts ; Diagnostic Errors ; Exanthema ; etiology ; Female ; Fever ; etiology ; Histiocytosis, Langerhans-Cell ; complications ; diagnostic imaging ; Humans ; Infant ; Liver ; Lung Diseases ; diagnostic imaging ; Male ; Retrospective Studies ; Skin ; Tomography, X-Ray Computed

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

STUDY DESIGN: Case report. OBJECTIVES: We report the case of a long, solitary, rosary-shaped neurofibroma that was misdiagnosed as another disease due to the patient's surgical history involving repetitive procedures and its abnormal appearance. SUMMARY OF LITERATURE REVIEW: Neurofibroma is an intradural-extramedullary spinal tumor. It is generally not difficult to diagnose due to its frequent occurrence and specific magnetic resonance imaging (MRI) findings. However, to date, neurofibromatosis stigmata and long, solitary, rosary-shaped neurofibromas have rarely been reported. MATERIALS AND METHODS: A 60-year-old woman was admitted to our hospital due to persistent pain, despite previous surgery and repetitive procedures. On physical examination, vision loss, hearing loss, skin discoloration, or subcutaneous nodules were not observed. A neurologic examination revealed normal motor and sensory function and voiding sensation. No pathologic reflexes such as the Babinski sign were observed. Previous sequential MRIs revealed intradural lesions that progressed from the thoracic vertebra 11 to the lumbar vertebra 3. She had no signs of neurofibromatosis stigmata, and the neurologic examination was unremarkable. The initial diagnosis was based on serial MRIs, which revealed a parasite infestation, a spinal cord tumor (myxopapillary-type ependymoma with hemorrhage), arachnoiditis, and vascular malformations. Total mass excision was performed, and the final diagnosis was neurofibroma. RESULTS: There were no signs of a tumor remnants or local recurrence in a 1-year follow-up MRI study. CONCLUSIONS: Although intradural spinal tumors are very rare, their clinical features are nonspecific and resemble other degenerative spinal diseases, including spinal stenosis and disc herniation. These diseases may easily be overlooked by physicians.
Arachnoid ; Arachnoiditis ; Christianity ; Diagnosis ; Diagnostic Errors ; Ependymoma ; Female ; Follow-Up Studies ; Hearing Loss ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Neurofibroma* ; Neurofibromatoses ; Neurologic Examination ; Parasites ; Physical Examination ; Recurrence ; Reflex ; Reflex, Babinski ; Sensation ; Skin ; Spinal Cord Neoplasms ; Spinal Diseases ; Spinal Stenosis ; Spine ; Vascular Malformations