Congenital ichthyosiform erythroderma (nonbullous CIE) Flashcards
(15 cards)
What type of inheritance is associated with the condition described?
Autosomal recessive
The condition is linked to heterogeneous genetic loci.
What is the prenatal diagnosis method for the condition?
Fetal skin biopsy at 22 weeks
This method allows for early detection of the condition.
What is the incidence rate of the condition?
1:180,000, M=F
This rate indicates it is more common than lamellar ichthyosis.
At what age does the condition typically present?
Birth
What gene mutations have been identified in some patients?
TGM1 gene mutations
These mutations are more closely identified with lamellar ichthyosis.
What is a key feature of the skin in newborns with this condition?
Collodion baby
This term refers to a specific appearance of the skin in affected newborns.
What skin features are observed after infancy?
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.
What hair condition is associated with this condition?
Cicatricial alopecia
What eye condition can occur with this condition?
Ectropion
Name a differential diagnosis for this condition.
Neutral lipid storage disease (NLSD), Lamellar ichthyosis (p. 10)
Ichthyosis vulgaris (p. 2)
Netherton syndrome
What laboratory investigation is used to differentiate from NLSD?
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
What type of skin biopsy can differentiate from NLSD?
Skin biopsy
It reveals lipid vacuoles in the basal epidermis in NLSD.
What is a key management step for newborns with this condition?
Transfer to neonatal intensive care unit monitor fluids, electrolytes, and for sepsis;
emolliation, high-humidity chamber
What management strategies are recommended for children and adults?
Topical keratolytics, topical retinoids, emolliation, oral retinoids (short course)
These treatments help manage the symptoms and improve skin condition.
What is the prognosis for individuals with this condition?
Usually unremitting course but may improve at puberty