Epidermolytic Hyperkeratosis/Bullous CIE Flashcards
(16 cards)
What is the name of the condition characterized by widespread bullae and erythroderma in newborns?
Epidermolytic Hyperkeratosis
Also known as Bullous congenital ichthyosiform erythroderma or Bullous ichthyosis.
What is the inheritance pattern of Epidermolytic Hyperkeratosis?
Autosomal dominant; 50% spontaneous mutations
Involves keratin K1 and K10 genes located on chromosomes 12q and 17q respectively.
What prenatal diagnostic method is used for Epidermolytic Hyperkeratosis?
Fetal skin biopsy at 20 to 22 weeks—clumped keratin filaments on electron
microscopy
DNA analysis: K1 and K10 mutations if defect in family known, linkage analysis if kindred is large
Clumped keratin filaments are observed on electron microscopy.
What is the incidence rate of Epidermolytic Hyperkeratosis in Americans?
Approximately 3,000 Americans afflicted
The condition affects both males and females.
At what age does Epidermolytic Hyperkeratosis typically present?
At birth
What is the pathogenesis of Epidermolytic Hyperkeratosis?
Heterogeneous gene defects in K1, K10 lead to defective keratin filaments in the
upper epidermis with subsequent tonofilament clumping and bullae formation
This results in tonofilament clumping and bullae formation.
What is the most common site for mutation in K10 associated with Epidermolytic Hyperkeratosis?
Arginine residue 156, greatest severity at terminal rod regions
This site has the greatest severity at terminal rod regions.
What are the skin features of Epidermolytic Hyperkeratosis in newborns?
Widespread bullae, erythroderma, denuded skin, secondary sepsis, electrolyte
imbalance; focal areas of hyperkeratosis
May lead to secondary sepsis and electrolyte imbalance.
What are the clinical features of Epidermolytic Hyperkeratosis from infancy to adulthood?
Localized to generalized hyperkeratosis with rare, focal bullae secondary to in-
fection (Staphyloccus aureus, gram-negative bacteria);
dark, warty scales with
spiny ridges, increased in flexures;
secondary bacterial infection with foul odor
in macerated, intertriginous areas;
scales shed with full-thickness stratum
corneum leaving tender, denuded base;
prominent palmoplantar keratoderma
(in some patients);
secondary nail dystrophy
May also include secondary bacterial infections and prominent palmoplantar keratoderma.
What is a differential diagnosis for Epidermolytic Hyperkeratosis in newborns?
Epidermolysis bullosa, Staphylococcal scalded skin syndrome
Toxic epidermal necrolysis
Other causes of blistering
Other conditions include Staphylococcal scalded skin syndrome and toxic epidermal necrolysis.
What investigations are recommended for diagnosing Epidermolytic Hyperkeratosis?
Skin biopsy for hematoxylin and eosin (H&E), frozen section (in newborn), and
electron microscopy, bacterial culture
Biopsy types include hematoxylin and eosin (H&E), frozen section, and electron microscopy.
What is the initial management for newborns with Epidermolytic Hyperkeratosis?
Transfer to neonatal intensive care unit monitor fluid, electrolytes, sepsis work-up; intravenous (IV) broad-spectrum antibiotics until cultures negative; gentle han-
dling, protective isolation
Includes monitoring fluid, electrolytes, and sepsis work-up.
What management strategies are advised for later infancy to adulthood in Epidermolytic Hyperkeratosis?
Avoid topical keratolytics, use systemic retinoids
Emolliation, antibacterial soaps, and antibiotic coverage are also important.
True or False: Widespread blistering in Epidermolytic Hyperkeratosis typically continues after the newborn period.
False
Widespread blistering usually clears after the newborn period.
Fill in the blank: Secondary bacterial infection in Epidermolytic Hyperkeratosis may lead to _______.
Foul odor in macerated, intertriginous areas
What is the longterm skin course , any improvement over time ?
hyperkeratotic scale usually
lifelong; generalized involvement may improve to localized disease after puberty
