An inmate aged 29 years is referred for teledermatology evaluation to treat severely dry skin. The condition has afflicted him throughout his life and also affects several family members.
His skin disorder has not responded to a variety of over-the-counter moisturizers. Past medical history is negative for systemic disease. Physical examination reveals large adherent plate-like scales that are most severe on the bilateral lower shins.
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This patient is suffering from ichthyosis vulgaris, an autosomal dominant genetically inherited disorder that is estimated to affect 1 in 250 people. The condition typically presents early in childhood and tends to improve with age. It is often seen in association with atopic dermatitis.1
Infants with ichthyosis vulgaris present with dry, scaling skin that becomes more extensive with development of adherent platelike scales as they grow older. Scaling tends to be most prominent on the extensor surfaces of the extremities.
Patients with associated atopic dermatitis often have keratosis pilaris and exaggerated palm creases.1 Symptoms are worse in the winter and may subside somewhat during the summer months.
The classic fish-skin stigmata of ichthyosis vulgaris are the result of dysregulated keratinization in the skin.1 This abnormal keratinization is associated with mutations in more than 50 genes encoding for proteins and enzymes involved in integral cellular functions, such skin barrier homeostasis.2
Abnormalities in these cellular functions lead to epidermal hyperplasia with the formation of excess stratum corneum and the characteristic scaly skin.3 Individuals with ichthyosis have diminished or absent profilaggrin, which is synthesized in the granular layer of the epidermis and is a major component of keratohyalin granules.4,5
Diagnosis of ichthyosis vulgaris is based on the cutaneous findings and family history. The condition is chronic in nature and often requires continuous therapy.
Topical alpha-hydroxy acids, such as ammonium lactate, are the mainstay of treatment, and they work by decreasing corneocyte adhesion in the outer stratum corneum.
Megha D. Patel is a student at the Commonwealth Medical College, Scranton, Pennsylvania.
Stephen Schleicher, MD, is an associate professor of medicine at the Commonwealth Medical College and an adjunct assistant professor of dermatology at the University of Pennsylvania Medical College. He practices dermatology in Hazleton, Pennsylvania.
- 1. Habif TP. Ichthyosis vulgaris. In: Habif TP, ed. Clinical Dermatology. 5th ed. Philadelphia, PA: Elsevier; 2010:167.
- 2. Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol. 2010;63(4):607-641.
- 3. Schmuth M, Gruber R, Elias PM, Williams ML. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol. 2007;23:231-256.
- 4. Hanifin JM. Evolving concepts of pathogenesis in atopic dermatitis and other eczemas. J Invest Dermatol. 2009;129(2):320-322.
- 5. Winge MC, Hoppe T, Berne B, et al. Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. PLoS One. 2011;6(12):e28254.