Questions and Answers
What is the typical characteristic of skin in patients with cEDS?
Which site is recommended for assessing skin hyperextensibility in cEDS patients?
What is a common issue experienced after surgical repair in patients with cEDS?
What type of scars are commonly formed after healing in cEDS patients?
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Which of the following is NOT a typical symptom of cEDS in fetuses?
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What is the primary method for assessing joint hypermobility in suspected patients?
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Which complication is commonly associated with chronic joint hypermobility in EDS patients?
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Which of the following features is often observed in patients with hypermobile EDS (hEDS)?
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What percentage of patients with cEDS exhibit mitral valve prolapse (MVP)?
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What is the Gorlin sign associated with EDS patients?
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What is the approximate prevalence of Marfan syndrome in the general population?
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Which major organ systems are primarily affected by Marfan syndrome?
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Which physical characteristic is commonly associated with the 'marfanoid habitus' in Marfan syndrome?
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What type of cardiovascular issues are classical findings in patients with Marfan syndrome?
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What challenges are associated with diagnosing Marfan syndrome in children?
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Study Notes
cEDS Overview
- Classic Ehlers-Danlos Syndrome (cEDS) presents with skin hyperextensibility, fragility, atrophic scarring, and generalized joint hypermobility.
- Historically, mild cases were classified as "mitis."
- Skin in cEDS is velvety, thin, bruises easily, and recoils quickly after stretching.
Skin Assessment
- Hyperextensibility is assessed using the Remvig criteria: skin can stretch more than 1.5 cm on distal forearms/dorsal hands, and more than 3 cm on the neck, elbows, or knees.
- Wounds are prone to slow healing, gaping, and frequent infections, often leading to atrophic "fish mouth" scars.
Symptoms and Manifestations
- Bruising often appears in early childhood, persistent in areas prone to trauma.
- Large skin tears can occur from minor trauma, with minimal pain or bleeding.
- Hematomas may lead to subcutaneous nodules and persistent hyperpigmentation.
- Joint hypermobility is common, assessed via the Beighton scale; scores of 5 or greater confirm the condition.
- Joint dislocations, sprains, scoliosis, and pes planus are common, leading to chronic pain.
Complications and Associated Conditions
- Osteoporosis is more prevalent compared to age-matched controls.
- Muscle hypotonia and delayed gross motor development are observed.
- Chronic fatigue syndrome and fibromyalgia diagnoses are common due to persistent fatigue and pain.
- Temporomandibular joint dysfunction is noted as a cause of secondary headaches.
Dental and Gastrointestinal Features
- Lack of lingual and labial frenula, particularly in vascular types of EDS.
- Hiatal hernias and functional bowel disorders occur in nearly half of affected individuals.
- Sexual dysfunction, including dyspareunia, has been reported.
Pregnancy and Maternal Risks
- Approximately 40% to 50% of affected individuals are born prematurely due to various complications.
- Increased risks during pregnancy include skin tears and postpartum hemorrhage.
Cardiovascular Manifestations
- Heart structural abnormalities, including mitral valve prolapse (6% of patients) and possible aortic root dilation.
- Baseline echocardiography is recommended, with yearly follow-ups for patients with cardiac issues.
Genetic Considerations
- Classical-like EDS and other rare forms present similar features but with additional risks, like vascular rupture.
- Genetic testing is crucial for accurate diagnosis and family history assessment.
- Autosomal recessive forms and overlap syndromes with osteogenesis imperfecta require specific attention to COL1A mutations.
Additional Observations
- Epidermal and superficial connective tissue fragility may worsen with conditions such as pregnancy due to hormonal changes.
- Joint laxity decreases with age; specialized questionnaires assist in evaluating adult patients.
Marfan Syndrome Overview
- Marfan syndrome is an autosomal dominant disorder primarily affecting skeletal, ocular, and cardiovascular systems.
- Prognosis has significantly improved over the last 30 years due to advancements in medical and surgical treatments.
- Approximately 25% of cases are sporadic, especially in children of older fathers; parental germline mosaicism is also noted.
- Prevalence ranges from 1 in 3000 to 5000 individuals, with no preference regarding race, gender, or geography.
Clinical Features
- Key organ systems affected are:
- Ocular: Lens dislocation (ectopia lentis).
- Skeletal: Increased limb length, joint laxity, deformities like pectus excavatum and carinatum.
- Cardiovascular: Aortic aneurysm and mitral valve issues.
- Physical features variably present with age, complicating diagnosis in childhood; no single sign is pathognomonic.
- "Marfanoid habitus" characterized by tall, thin body with disproportionately long lower segments.
Skeletal Manifestations
- Excessive length of distal bones leads to arachnodactyly (long fingers).
- Bone overgrowth can cause severe kyphoscoliosis, worsening during puberty.
- Common thoracic deformities include pectus excavatum (sternum depressed) and pectus carinatum (sternum protrudes) without typically compromising cardiopulmonary functions.
- Joint hypermobility may result in flat feet, knee hyperextension (genu recurvatum), and possible dislocations.
Ocular Findings
- High incidence of myopia (50-70%) due to corneal flattening and elongated ocular structure.
- Ectopia lentis typically results in lens displacement, often upwards; may lead to secondary conditions like retinal detachment and glaucoma.
- Regular ophthalmologic evaluations are crucial, especially dilated slit-lamp examinations to detect subtle lens dislocations.
Cardiovascular Implications
- Anatomical cardiovascular defects are the leading cause of morbidity and mortality.
- Aortic dilation and medial necrosis are common, with propensity for progressive dilatation observable even in utero.
- Mitral valve prolapse (MVP) affects approximately 75% of patients, often correlating with pectus excavatum and can lead to serious complications including arrhythmias.
Cutaneous and Other Findings
- Common cutaneous signs include lack of subcutaneous fat and striae, particularly on the chest, arms, thighs, and abdomen.
- Elastosis perforans serpiginosa association and increased risk of inguinal or incisional hernias noted.
- Dural ectasia, defined as lumbosacral dural sac stretching, is frequently observed.
- Respiratory issues may arise from emphysema and lung bullae, particularly in upper lobes.
Oral and Dental Manifestations
- Oral findings may include a high-arched palate and crowding of anterior teeth, representing minor yet relevant diagnostic features.
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Description
This quiz explores the clinical features of classical Ehlers-Danlos syndrome (cEDS), highlighting skin hyperextensibility, fragility, and joint hypermobility. Learn about the historical context of patients with mild features and understand the assessment techniques used to evaluate skin elasticity.
