Related Experiment Video
Updated: May 4, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
3.3K
Familial myomatosis cutis et uteri, segmental type 2
Palak Deshmukh1, Yugal K Sharma2, Nitin D Chaudhari2
1Department of Dermatology, Dr. D.Y. Patil Medical College and Hospital, Pimpri, Pune, Maharashtra, India.
Indian Dermatology Online Journal
|December 19, 2013
Summary
Reed's syndrome, an inherited condition, causes multiple uterine and skin leiomyomas. This case highlights the condition's presentation in a mother and daughter, emphasizing early onset and potential for associated symptoms.
Area of Science:
- Genetics
- Dermatology
- Gynecology
Background:
- Reed's syndrome (familial myomatosis cutis et uteri) is an autosomal dominant disorder.
- It is characterized by multiple cutaneous and uterine leiomyomas with incomplete penetrance.
- Uterine leiomyomas often manifest earlier than in the general population.
Observation:
- A 50-year-old female presented with multiple painful cutaneous leiomyomas.
- She had a history of hysterectomy due to large uterine fibroids.
- Her 18-year-old daughter also presented with uterine fibroids.
Findings:
- The case illustrates familial transmission of Reed's syndrome.
- The co-occurrence of cutaneous and uterine leiomyomas is confirmed.
- The potential for early onset of symptoms in affected families is observed.
Implications:
- Early diagnosis and genetic counseling are crucial for families with Reed's syndrome.
- Understanding the variable penetrance and presentation is important for patient management.
- Further research into associated conditions like renal cell carcinoma is warranted.
Related Concept Videos
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
805
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...
805
01:30Cardiomyopathy II: Dilated Cardiomyopathy
790
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
790
01:11Papillary Dermis
5.8K
Dermis
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen...
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen...
5.8K
01:25Cardiomyopathy I: Introduction and Classification
826
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
826
01:21Satellite Stem Cells and Muscular Dystrophy
1.7K
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...
1.7K
01:05Type IV Collagen of Basal Lamina
2.5K
Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can...
A type IV collagen molecule has six alpha chains which can...
2.5K