Congenital ichthyosiform erythroderma (nonbullous CIE)

Question 1

What type of inheritance is associated with the condition described?

Answer 1

Autosomal recessive

The condition is linked to heterogeneous genetic loci.

Question 2

What is the prenatal diagnosis method for the condition?

Answer 2

Fetal skin biopsy at 22 weeks

This method allows for early detection of the condition.

Question 3

What is the incidence rate of the condition?

Answer 3

1:180,000, M=F

This rate indicates it is more common than lamellar ichthyosis.

Question 4

At what age does the condition typically present?

Answer 4

Birth

Question 5

What gene mutations have been identified in some patients?

Answer 5

TGM1 gene mutations

These mutations are more closely identified with lamellar ichthyosis.

Question 6

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

Answer 6

Collodion baby

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

Question 7

What skin features are observed after infancy?

Answer 7

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.

Question 8

What hair condition is associated with this condition?

Answer 8

Cicatricial alopecia

Question 9

What eye condition can occur with this condition?

Answer 9

Ectropion

Question 10

Name a differential diagnosis for this condition.

Answer 10

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

Question 11

What laboratory investigation is used to differentiate from NLSD?

Answer 11

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

Question 12

What type of skin biopsy can differentiate from NLSD?

Answer 12

Skin biopsy

It reveals lipid vacuoles in the basal epidermis in NLSD.

Question 13

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

Answer 13

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

Question 14

What management strategies are recommended for children and adults?

Answer 14

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

These treatments help manage the symptoms and improve skin condition.

Question 15

What is the prognosis for individuals with this condition?

Answer 15

Usually unremitting course but may improve at puberty