DISCUSSION
Ichthyosis vulgaris (IV) is one of a family of disorders that cause a breakdown of normal filamentous structures (filaggrin) that hold the layers of skin together. This breakdown can lead to excessive water loss, as well as vulnerability of skin to penetration by allergens and other noxious substances.
IV is by far the most common variation, comprising at least 95% of all ichthyosiform dermatoses. It results from an inherited abnormality of epidermal differentiation or metabolism; affected patients have a higher incidence of eye problems (eg, keratitis, cataracts) in addition to their skin problems.
A total of 28 types of ichthyosis have been described, many of which are part of larger syndromes (such as keratitis-ichthyosis-deafness syndrome or Netherton syndrome). Another uncommon type, X-linked recessive ichthyosis, manifests in about 1 in 5,000 births; these patients improve dramatically in the summertime with additional sun exposure.
Ichthyosis manifests with varying degrees of severity. While this case is fairly severe, the worst cases (Harlequin and lamellar forms) begin at birth with a nearly absent stratum corneum.
This patient and his family were advised on the use of emollients and avoidance of excessive drying of skin. They were also strongly encouraged to seek genetic counseling.
TAKE-HOME LEARNING POINTS
- Ichthyosis is a family of disorders that cause a breakdown of normal filamentous structures (filaggrin) that hold the layers of skin together.
- The resultant water loss can leave skin vulnerable to penetration by allergens and other noxious substances.
- Ichthyosis vulgaris is by far the most common member of this family of disorders, comprising more than 95% of cases.
- Heavy emollients and avoidance of drying constitute the bulk of treatment efforts.