Faculty Bibliography

Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant disorder of keratinization. It is characterized by a mild epidermolytic ichthyosis which tends to localize to the flexures. Affected individuals are born with widespread blistering, which develops into large hyperkeratotic plaques over the extremities. Mutations in the K2e gene cause epidermolytic hyperkeratosis confined to the upper spinous and granular layers, as observed in IBS. In this report, we describe a novel mutation in the keratin 2e gene in a four-generation IBS kindred of German ancestry. The mutation resides within the 2B helix termination motif of the keratin 2e gene, and extends the body of evidence implicating keratin 2e gene mutations in IBS.

Cutaneous depressions, commonly known as dimples, are uncommon in locations other than the face. An infant had deep dimple-like depressions near the acromion bilaterally. This most likely represents benign autosomal acromial dimples, a rarely reported autosomal dominant condition. Other causes of dimples include a variety of congenital malformation syndromes, and infectious, metabolic, and traumatic etiologies. Awareness of the etiology and significance of skin dimples is helpful to the clinician when confronted with this unusual finding.

Cosmetically unappealing lax, wrinkled eyelid skin may result from various processes including connective tissue diseases, natural aging, and blepharochalasis. Since the end-stage eyelid changes due to several different processes are similar, the presence or absence of prior chronic or recurrent eyelid edema is an important differentiating point. We review blepharochalasis and provide a logical approach to its differential diagnosis.