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Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is an autosomal recessive blistering disease including lethal and non-lethal variants due to mutations in ITGB4 and ITGA6. It is unclear whether PA is caused directly by the mutations in these genes or by other factors. Skin biopsies from patients with JEB were processed for immunofluorescence mapping. When staining for integrin beta4 or alpha6 was absent or reduced, ITGB4 was screened for mutations. A review of known mutations of ITGB4 and the phenotypes of patients with JEB-PA was undertaken. Three novel ITGB4 mutations were identified in 3 families with JEB-PA: 2 splice-site and one insertion mutation. Two families with lethal phenotypes (EB-050 and EB-049) were due to combinations of premature termination codons and missense mutations (658delC/R252C and 3903dupC/G273D, respectively). The third family EB-013 has 2 JEB affected siblings; a brother with PA and a sister without PA. Both were homo notzygous for ITGB4 264G>A/3111-1G>A. Two cases had no gastrointestinal symptoms or signs of PA. PA is an inconstant feature of the subtype of epidermolysis bullosa known as JEB-PA. It is most likely that multiple factors influence the development of PA and its presence is not predictive of a poor outcome. It is possible that institutions that do not routinely screen immunofluore notscence mapping for integrin alpha6beta4 staining in the absence of PA are missing this form of epidermolysis bullosa.

A 10-year-old boy was diagnosed with non-Herlitz junctional epidermolysis bullosa (nh-JEB) shortly after birth when he developed blisters on his feet and under the toenails. His younger brother was also affected by nh-JEB. Their parents were first cousins. Immunofluorescence mapping showed a blister in the lamina lucida and reduced staining with GB3 antibody against laminin V. Molecular analysis showed a homozygous mutation in the LAMC2 gene. The patient complained of intermittent inability to pass urine, causing significant suprapubic pain, anxiety, and general discomfort. He reported the development of blisters and erosions at the urethral meatus, which caused fusion of the meatal opening. In order to micturate, he had to tear apart the fused tissue, resulting in considerable pain. Physical examination revealed multiple healing erosions and atrophic scars, mainly on the legs (Fig. 1), and anonychia of most of the toenails. The walls of the urethral meatus were adherent (Fig. 2). The urethral meatus could not be opened using a moderate amount of pressure by the examining physicians. Prevention of re-stenosis of the urethral meatus was accomplished with the application of Mepilex (Mölnlycke, Sweden) to the urethral meatus after each micturition, where it remained until the next episode of micturition. Since the institution of this care regimen 10 months ago, there has been no recurrence of the stenosis.

Patients with various forms of epidermolysis bullosa have fragile skin which can act as a breeding ground for multiple microbial agents. Standard wound care practices advocate the use of special dressings on open erosions as well as antibiotic topical medications to treat and prevent cutaneous infections. We report a child with recessive dystrophic epidermolysis bullosa admitted to our institution because of fevers at home. She was treated with multiple antibiotics for a cutaneous infection of the right hand. During her hospital stay, she sustained persistent fevers, and oral erosions developed, with progressive hemorrhagic crusting. Viral culture of the lip grew herpes simplex virus type 1, consistent with a diagnosis of herpetic gingivostomatitis. We present this patient to illustrate the importance of investigating wounds of epidermolysis bullosa patients for viral agents when faced with managing a child with an unclear source of fever. To the best of our knowledge, although this is the first report of herpetic gingivostomatitis in association with epidermolysis bullosa, it is likely to be more prevalent than the literature could suggest.

Chordomas are rare malignant primary bone tumors, which most often occur in the sacral area. These tumors uncommonly affect the skin, and may not be recognized by dermatologists. We present a case of an adult woman with cutaneous metastasis of a primary sacral chordoma.

We report an immunocompromised woman with chronic lymphocytic leukemia who developed cutaneous zygomycosis at the site of an arterial line. The initial lesion resembled a bulls-eye. Bull's-eye lesions of zygomycosis have been reported twice before. Recognition of this sign may allow the dermatologist to make a rapid presumptive diagnosis and initiate treatment for this life-threatening infection.