ABSTRACT
Abstract Although dermatofibromas are not uncommon benign dermal nodules, palms are rarely involved. Herein, a rare case of palmar dermatofibroma was described, which occurred in a patient with porokeratosis.
ABSTRACT
Abstract A 41-year-old female visited our department complaining of asymptomatic subcutaneous nodules on the right forearm. She had been diagnosed as having Cushing syndrome due to an adrenal tumor 5-months previously. After she underwent surgery for the adrenal tumor, the subcutaneous nodules gradually increased in number. Physical examination showed ill-defined plate-like subcutaneous indurations on the bilateral lower extremities, buttocks, and right forearm. A biopsy of one of the subcutaneous indurations showed non-caseating epithelioid cell granulomas involving the hypodermis and subcutaneous tissues. The patient was diagnosed as having sarcoidosis based on the Japan Society of Sarcoidosis and Other Granulomatous Disorders 2015 criteria. Skin lesions decreased in size and had completely disappeared. Although the mechanism is unknown, there may be a possibility that the activity of sarcoidosis is suppressed by high cortisol concentrations due to Cushing syndrome.
ABSTRACT
<p><b>OBJECTIVE</b>To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA.</p><p><b>METHODS</b>Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.</p><p><b>RESULTS</b>The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.</p><p><b>CONCLUSION</b>This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.</p>