lamellar ichthyosis

Introduction

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

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

More general terms

• congenital ichthyosis

More specific terms

• autosomal dominant lamellar ichthyosis
• autosomal recessive lamellar ichthyosis

Database

• OMIM: https://mirror.omim.org/entry/242300