cEDS Overview and Characteristics

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Questions and Answers

What is the typical characteristic of skin in patients with cEDS?

It is hyperextensible but recoils easily. (correct)

It exhibits discoloration regardless of trauma.

It is thick and resistant to stretching.

It tends to scar heavily and easily.

Which site is recommended for assessing skin hyperextensibility in cEDS patients?

Volcanic surface of the forearm

Back of the hands

Volar surface of the nondominant forearm (correct)

Face during increased stress

What is a common issue experienced after surgical repair in patients with cEDS?

Immediate skin recovery

Wound dehiscence (correct)

No complications during healing

Severe inflammatory response

What type of scars are commonly formed after healing in cEDS patients?

Atrophic, fish mouth-like scars Signup and view all the answers

Which of the following is NOT a typical symptom of cEDS in fetuses?

Increased vascular strength Signup and view all the answers

What is the primary method for assessing joint hypermobility in suspected patients?

Beighton scale Signup and view all the answers

Which complication is commonly associated with chronic joint hypermobility in EDS patients?

Scoliosis Signup and view all the answers

Which of the following features is often observed in patients with hypermobile EDS (hEDS)?

Frequent joint pain and sprains Signup and view all the answers

What percentage of patients with cEDS exhibit mitral valve prolapse (MVP)?

6% Signup and view all the answers

What is the Gorlin sign associated with EDS patients?

Ability to touch the tip of the nose with the tongue Signup and view all the answers

What is the approximate prevalence of Marfan syndrome in the general population?

1 in 3000 to 5000 persons Signup and view all the answers

Which major organ systems are primarily affected by Marfan syndrome?

Skeletal, ocular, and cardiovascular systems Signup and view all the answers

Which physical characteristic is commonly associated with the 'marfanoid habitus' in Marfan syndrome?

Excessively long distal bones and tall, thin physique Signup and view all the answers

What type of cardiovascular issues are classical findings in patients with Marfan syndrome?

Aortic aneurysm and mitral valve redundancy Signup and view all the answers

What challenges are associated with diagnosing Marfan syndrome in children?

Many physical features are age-dependent and not prominent in childhood Signup and view all the answers

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.