Approach to diagnosis
- Etiology: genetic, usually autosomal recessive
- Identified mutations on chromosomes 14q11 and 2q33-35
- Abnormal keratin formation
- Subtype of ichthyosiform dermatoses which also include:
- Dominant ichthyosis vulgaris
- X-linked ichthyosis
- Epidermolytic hyperkeratosis
- Epidemiology
- Incidence 1:250,000–300,000
- History
- Disease evident at birth
- "Collodion baby": encasement in transparent, parchment-like membrane that spontaneously sheds within 2 weeks
- Large scales develop after membrane sheds
- Clinical features
- Cicatricial ectropion and lagophthalmos (Figure 1A)
- Generalized fish-like scales over entire body (Figure 1B)


Figure 1. Two-week-old old infant with lamellar ichthyosis. A. Cicatricial lagophthalmos and ectropion of all four lids. B. Generalized scaling as demonstrated on abdomen (Oestreicher 1990).
- Corneal scarring: might not be completely attributable to exposure (Cruz 2000)
- Testing and evaluation for establishing the diagnosis
- Physical findings
- Skin biopsy
- Genetic testing
Risk factors
Family history
Differential diagnosis
Limited
Patient management
- Natural history: chronic and unremitting
- Medical therapy
- Skin moisturizers
- Less severe in warm, humid climates
- Surgery: anterior lamellar grafts for cicatricial ectropion
- Donor sites for full-thickness skin grafts limited due to generalized involvement
- Penile foreskin (Uthoff 1994)
- Maternal allograft (Das 2010)
- Oral mucous membrane graft (Nayak 2011)
- Human engineered skin (Culican 2002)
- Advancement flaps
Disease-related complications
Disease-related complications are syndrome-related: Refsum syndrome, Gaucher syndrome.