Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

Sellar Angiolipomas: 2 Case Reports and Review of the Literature

angiolipomas: two case reports and a review of the literature. Summary Angiolipomas are mesenchymal hamartomas composed of abnormal blood vessels and mature adipose tissue, most commonly found in the subcutaneous tissue of the extremities. Intracranial location is extremely rare and only five cases have been described in the sellar region. We report on two patients that were initially diagnosed...

Orofacial granulomatosis: 2 case reports and literature review.

Orofacial granulomatosis comprises a group of diseases characterized by noncaseating granulomatous inflammation affecting the soft tissues of the oral and maxillofacial region. The most common clinical presentation is persistent swelling of one or both lips. It is important to establish the diagnosis accurately because this condition is sometimes a manifestation of Crohn's disease or sarcoidosi...

Abetalipoproteinemia: two case reports and literature review

Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene encoding the large ...

Madelung's disease: case reports and literature review.

Multiple symmetric lipomatosis, also known as Madelung’s disease or LaunoisBensaude syndrome, is a rare entity characterized by painless, subcutaneous diffuse deposition of adipose tissue on the neck, upper trunk, arms and legs. Historically, Madelung’s disease has been most frequently observed in men (male-female ratio = 15:1) aged between 30 and 60 years. The disease prevalence is increased a...