{ "@context": "https://schema.org", "@type": "Organization", "name": "Brainscape", "url": "https://www.brainscape.com/", "logo": "https://www.brainscape.com/pks/images/cms/public-views/shared/Brainscape-logo-c4e172b280b4616f7fda.svg", "sameAs": [ "https://www.facebook.com/Brainscape", "https://x.com/brainscape", "https://www.linkedin.com/company/brainscape", "https://www.instagram.com/brainscape/", "https://www.tiktok.com/@brainscapeu", "https://www.pinterest.com/brainscape/", "https://www.youtube.com/@BrainscapeNY" ], "contactPoint": { "@type": "ContactPoint", "telephone": "(929) 334-4005", "contactType": "customer service", "availableLanguage": ["English"] }, "founder": { "@type": "Person", "name": "Andrew Cohen" }, "description": "Brainscape’s spaced repetition system is proven to DOUBLE learning results! Find, make, and study flashcards online or in our mobile app. Serious learners only.", "address": { "@type": "PostalAddress", "streetAddress": "159 W 25th St, Ste 517", "addressLocality": "New York", "addressRegion": "NY", "postalCode": "10001", "addressCountry": "USA" } }

Congenital ichthyosiform erythroderma (nonbullous CIE) Flashcards

(15 cards)

1
Q

What type of inheritance is associated with the condition described?

A

Autosomal recessive

The condition is linked to heterogeneous genetic loci.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the prenatal diagnosis method for the condition?

A

Fetal skin biopsy at 22 weeks

This method allows for early detection of the condition.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the incidence rate of the condition?

A

1:180,000, M=F

This rate indicates it is more common than lamellar ichthyosis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

At what age does the condition typically present?

A

Birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What gene mutations have been identified in some patients?

A

TGM1 gene mutations

These mutations are more closely identified with lamellar ichthyosis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is a key feature of the skin in newborns with this condition?

A

Collodion baby

This term refers to a specific appearance of the skin in affected newborns.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What skin features are observed after infancy?

A

Generalized erythroderma with fine, white scale, flexures involved; extensor legs with large, platelike, dark scale; palmoplantar keratoderma; hypohidrosis with heat intolerance

These features characterize the skin condition as it progresses.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What hair condition is associated with this condition?

A

Cicatricial alopecia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What eye condition can occur with this condition?

A

Ectropion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Name a differential diagnosis for this condition.

A

Neutral lipid storage disease (NLSD), Lamellar ichthyosis (p. 10)
Ichthyosis vulgaris (p. 2)
Netherton syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What laboratory investigation is used to differentiate from NLSD?

A

Complete blood count (CBC) —differentiate from NLSD with lipid vacuoles in
leukocytes and monocytes in NLSD
Skin biopsy—differentiate from NLSD with lipid vacuoles in basal epidermis in NLSD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What type of skin biopsy can differentiate from NLSD?

A

Skin biopsy

It reveals lipid vacuoles in the basal epidermis in NLSD.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is a key management step for newborns with this condition?

A

Transfer to neonatal intensive care unit monitor fluids, electrolytes, and for sepsis;
emolliation, high-humidity chamber

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What management strategies are recommended for children and adults?

A

Topical keratolytics, topical retinoids, emolliation, oral retinoids (short course)

These treatments help manage the symptoms and improve skin condition.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the prognosis for individuals with this condition?

A

Usually unremitting course but may improve at puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly