[Giant hemophilic pseudotumors in brothers with non-severe hemophilia B]

Ikuko Matsumura1, Kunio Yanagisawa1, Yoshiyuki Ogawa1

  • 1Department of Hematology, Gunma University Hospital.

Hemophilic pseudotumors can occur in patients with hemophilia because of recurrent bleeding and poor hemostasis. A man in his 30s with hemophilia B and human immunodeficiency virus/hepatitis C virus co-infection complicated by liver cirrhosis presented with a large pseudotumor in the left iliopsoas muscle. However, resting to stop bleeding was difficult with his daily work. Osteolytic changes in the left ilium progressed over 8 years. A large osteolytic pseudotumor in the pelvis was also incidentally identified in his younger brother during his 30s. The same mutations in F9 (p. Arg294Gln, hemizygous mutation) associated with a non-severe phenotype were detected in both brothers. The clinical courses of the brothers suggested that large pseudotumors can occur in patients with non-severe hemophilia and underline the importance of patient education.

Related Concept Videos

Probability Laws01:49

Probability Laws

Overview
44.5K
Self-Discrepancy Theory02:45

Self-Discrepancy Theory

One influential perspective on what motivates people's behavior is detailed in Tory Higgin's self-discrepancy theory (Higgins, 1987). He proposed that people hold disagreeing internal representations of themselves that lead to different emotional states.  
18.9K
Lampbrush Chromosomes01:51

Lampbrush Chromosomes

In 1882, Flemming observed lampbrush chromosomes (LBC) in salamander eggs. Later in 1892, Rückert observed LBCs in shark egg cells and coined the term "lampbrush chromosomes" because they looked like brushes used to clean kerosene lamps.
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops...
8.7K
Polytene Chromosomes02:04

Polytene Chromosomes

Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also...
11.0K