Related Experiment Video

Updated: Aug 12, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Multiple pilomatrixomata and myotonic dystrophy: a familial association

J L Geh1, A L Moss

  • 1Department of Burns and Plastic Surgery, Queen Mary's University Hospital, London, UK.

British Journal of Plastic Surgery
|August 6, 1999
PubMed

Insights

Pilomatrixoma may precede myotonic dystrophy (DM), the most common adult-onset muscular dystrophy. This case report details the 25th instance of co-occurrence, noting an unusually high number of pilomatrixomas.

Area of Science:

  • Dermatology
  • Neurology
  • Genetics

Background:

  • Myotonic dystrophy (DM) is the most common adult-onset muscular dystrophy, an autosomal dominant disorder.
  • DM is linked to a genetic locus on chromosome 19q and is diagnosable via DNA testing.
  • The association between pilomatrixoma and DM has been previously reported in 13 English literature publications.

Observation:

  • Pilomatrixomas appear to develop before the onset of clinical signs of myotonic dystrophy.
  • This report presents the 25th documented case of a patient exhibiting both pilomatrixoma and myotonic dystrophy.
  • The patient in this study had an exceptionally high number of histologically confirmed pilomatrixomas.

Findings:

  • The study reinforces the association between pilomatrixoma and myotonic dystrophy.
  • The findings suggest a potential precursor role of pilomatrixoma in the development of myotonic dystrophy.
  • This case highlights a significant number of pilomatrixomas in a patient with myotonic dystrophy.

Implications:

  • Early identification of pilomatrixoma may warrant screening for myotonic dystrophy.
  • Further research into the underlying mechanisms connecting these conditions is indicated.
  • Understanding this association could lead to improved diagnostic strategies and patient management for myotonic dystrophy.

More Related Videos

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Related Concept Videos

Overview of Myosin Structure and Function01:15

Overview of Myosin Structure and Function

Myosins are a family of molecular motor proteins, first identified in the skeletal muscles, where they are responsible for muscle contraction. Along with their role in muscle contraction, these proteins also play a role in the intracellular transport of molecules and vesicles. There are twenty-four classes of myosins based on their domain sequence and organization. Of the twenty-four, six classes (Myosin I, Myosin II, Myosin V, Myosin VI, Myosin VII, and Myosin X)  have been well characterized.
Formation of Muscle Fibers from Myoblasts01:13

Formation of Muscle Fibers from Myoblasts

De novo myogenesis, or the formation of muscle fibers, begins during the early embryonic stages. The skeletal muscle is formed from somites– blocks of embryonic cell layers. The somites are further divided into dermatomes, myotomes, sclerotomes, and syndetomes. Among these, the myotomes give rise to muscle fibers.
Muscle progenitor cells (MPCs) are formed from the myotomes. MPCs express genes that encode the transcription factors Pax3 and Pax7. Along with Pax 3/7, other transcription factors...
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...