Clinical Review
Zollinger-Ellison Syndrome: Not Your Average Peptic Ulcer Disease
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DIAGNOSIS
Diagnostic criteria for IP have been proposed, with family history playing a role (see Table).2,3,12 Results of a case-study series indicate that 28% of patients with IP have a family history involving at least one first-degree female relative. IP was considered “sporadic” in 62% of cases studied.3
Without a family history of IP, at least one major criterion must be present to support the diagnosis. These include
- Neonatal rash (erythema, vesicles)
- Linear, atrophic, hairless lesions
- Hyperpigmentation (mainly on trunk, following Blaschko lines)
In a patient with a family history of IP, the presence of any major criterion strongly supports the diagnosis. These, as well as minor criteria, are outlined in the Table.2,3,12
In stages I and II of IP, pathologic features include spongiotic dermatitis with characteristic eosinophils and large dyskeratotic cells.3,13 In stage IV, skin biopsies may reveal slight atrophy and scattered apoptotic cells in the epidermis and epidermal hypopigmentation due to reduced melanocytes. The dermis typically appears thickened and is absent hair follicles and sweat glands.14 In a 2014 update, these pathologic features were proposed to be included in the major diagnostic criteria.12
TREATMENT/MANAGEMENT
Treatment of IP is centered on the involved organ systems. For cutaneous lesions, treatment is not usually necessary unless inflammation persists. In such cases, topical steroids or tacrolimus have been used with some success.15,16 In the vesicular stage, the patient should be monitored for bacterial infection, with appropriate prevention or treatment as necessary.
With other involved systems—such as dental, ophthalmologic, or neurologic (eg, seizures or other encephalopathy) anomalies—consultation and follow-up with the relevant specialist is warranted.
In this case, the patient denied family history of IP. She did have a history of infantile cataract and seizure. Her presenting signs were typical of stage IV IP: hypopigmented streaky patches on the skin of the lower legs, dental abnormalities, somewhat wooly hair, alopecia on the head, and loss of hair on the lateral aspects of the eyebrows. The uniqueness of this case is that the patient also had type 1 diabetes, a condition with a strong genetic predisposition. However, there is no evidence supporting an association between IP and either type of diabetes.
CONCLUSION
Although rare, when IP does occur, its manifestations are vast and severe enough to significantly reduce quality of life for patients; when it occurs in males, it is usually lethal. This genetic disorder can affect multiple body systems, making knowledge of its symptoms essential for proper diagnosis. Because its characteristic stages may be present at birth or in infancy, early identification and diagnosis of IP can help guide treatment intervention.
