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Condition

Lamellar Ichthyosis

Condition 101

What is the definition of Lamellar Ichthyosis?

Lamellar ichthyosis (LI) is a rare skin condition. It appears at birth and continues throughout life.

What are the alternative names for Lamellar Ichthyosis?

LI; Collodian baby - lamellar ichthyosis; Ichthyosis congenital; Autosomal recessive congenital ichthyosis - lamellar ichthyosis type

What are the causes for Lamellar Ichthyosis?

LI is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the disease gene to their child in order for the child to develop the disease.

What are the symptoms for Lamellar Ichthyosis?

Many babies with LI are born with a clear, shiny, waxy layer of skin called a collodion membrane. For this reason, these babies are known as collodian babies. The membrane sheds within the first 2 weeks of life. The skin underneath the membrane is red and scaly. It resembles the surface of a fish.

With LI, the outer layer of skin called the epidermis is not normal and cannot protect the body like the healthy epidermis can. As a result, a baby with LI may have the following health problems:

  • Difficulty in feeding
  • Loss of fluid dehydration
  • Loss of balance of minerals in the body (electrolyte imbalance)
  • Breathing problems
  • Body temperature that is not stable
  • Skin or body-wide infections

Older children and adults with LI may have these symptoms:

  • Very large scales that cover most of the body
  • Decreased ability to sweat causing sensitivity to heat
  • Hair loss
  • Abnormal finger and toenails
  • Skin of the palms and soles is thickened

What are the current treatments for Lamellar Ichthyosis?

Collodion babies usually need to stay in the neonatal intensive care unit (NICU). They are placed in a high-humidity incubator. They will need extra feedings. Moisturizers need to be applied to the skin. After the collodion membrane is shed, babies can usually go home.

Lifelong care of the skin involves keeping the skin moist to minimize the thickness of the scales. Measures include:

  • Moisturizers applied to the skin
  • Medicines called retinoids that are taken by mouth in severe cases
  • High-humidity environment
  • Bathing to loosen scales

What are the support groups for Lamellar Ichthyosis?

These groups can provide more information about LI:

  • National Organization for Rare Disorders -- rarediseases.org/rare-diseases/ichthyosis-lamellar
  • NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/lamellar-ichthyosis

What are the possible complications for Lamellar Ichthyosis?

Babies are at risk for infection when they shed the collodian membrane.

Eye problems may occur later in life because the eyes cannot close completely.

REFERENCES

Martin KL. Disorders of keratinization. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 658.

Paller AS, Mancini AJ. Hereditary disorders of cornification. In: Paller AS, Mancini AJ, eds. Hurwitz Clinical Pediatric Dermatology. 5th ed. Philadelphia, PA: Elsevier; 2016:chap 5.

Richard G, Ringpfeil F. Ichthyoses, erythrokeratodermas, and related disorders. In: Bolognia JL, Schaffer JV, Cerroni L, eds. Dermatology. 4th ed. Philadelphia, PA: Elsevier; 2018:chap 57.

Data Source : ADAM

Graphics

Ichthyosis, acquired - legs