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lamellar ichthyosis
dry form of congenital ichthyosis
Pathology:
- hyperkeratosis
- prominent granular layer in the epidermis
- slight acanthosis
- many mitotic figures
- normal or reduced epidermal turnover
Genetics:
- autosomal recessive
- caused by a variant in the gene encoding transglutaminase-1
Clinical manifestations:
- ectropion may be associated with an inability to shut the eyes completely due to thick periocular scale
- large, coarse scales over most of the body
- widened palms & soles
* image [2]
Complications:
- may be fatal in first year of life
- sepsis
- protein loss
- electrolyte imbalances
Management:
- symptoms can improve with topical & oral therapies but do not remit
- emollients, mild keratolytics, topical or oral retinoids
- gene therapy & enzyme replacement therapy are investigational
Specific
autosomal dominant lamellar ichthyosis
autosomal recessive lamellar ichthyosis
General
congenital ichthyosis
Database Correlations
OMIM 242300
References
- Stedman's Medical Dictionary 27th ed, Williams &
Wilkins, Baltimore, 1999
- Wu YC, Yao Q.
Images in Dermatology. Lamellar Ichthyosis.
JAMA Dermatol. 2023;159(2):210
PMID: 36576743
https://jamanetwork.com/journals/jamadermatology/fullarticle/2799564