SAN FRANCISCO – One in 100 people in the United States has celiac disease, and 25% will develop dermatitis herpetiformis Duhring, a cutaneous manifestation of the disease.
Clinical diagnosis of dermatitis herpetiformis Duhring, also known as Duhring’s disease, is difficult, but skin biopsy and direct immunofluorescence can help make the diagnosis. Look for antibodies against gliadin, endomysium, and transglutaminase, Dr. Magdalene A. Dohil said at the seminar, sponsored by Skin Disease Education Foundation (SDEF).
Dermatitis herpetiformis Duhring is uncommon in children, with only 5% of cases appearing in patients younger than 7 years. It more typically presents in the fourth decade of life.
Celiac disease is very common, though, and mucocutaneous manifestations may point to the diagnosis, said Dr. Dohil of the University of California, San Diego.
Approximately 1% of the U.S. population has this genetically determined intolerance to gluten, and 74% of people with celiac disease will have cutaneous manifestations – most commonly xerosis, which often causes pruritus. Mucosal manifestations occur in 27% of patients, nail manifestations in 20%, and hair manifestations in 7%. Mucosal findings are most likely in patients with longer duration of celiac disease. Cutaneous findings tend to be non-specific and do not help much in diagnosing celiac disease.
The gold standard for diagnosing celiac disease remains a small bowel biopsy showing villous atrophy, crypt hyperplasia, and lymphocytic infiltrate, according to Dr. Dohil. Because patients with celiac disease have increased risk for osteoporosis and intestinal lymphoma, it’s important to screen adult patients for these problems.
Treating celiac disease involves a lifelong gluten-free diet. Treat dermatitis herpetiformis Duhring with a gluten-free diet and dapsone, she said.
A connection between skin and gut can be found in many diseases, disorders, syndromes, and structural epithelial defects, she noted. GI symptoms affect 58% of children with epidermolysis bullosa. Dysphagia (even to saliva) occurs in 76% of patients with recessive dystrophic epidermolysis bullosa (RDEB) and in 15% of patients with junctional epidermolysis bullosa (JEB). Lingual adhesions and microstomia can be seen. In the esophagus, epidermolysis bullosa can affect anatomical motility though strictures, herniations, atony, reflux, and other problems. Patients are at high risk for nutritional difficulties; 77% of patients with RDEB and 57% with JEB are underweight. Because of the impact of the nutritional imbalance on wound healing, more than half of patients with RDEB require gastrostomy.
"It is vital to address these adequately since any negative nutritional balance has a major impact on wound healing ability," she added.
Mastocytosis can have multisystem involvement including the skin. In the GI system, mastocytosis can lead to nausea and vomiting, diarrhea, abdominal cramping, ulcerative disease, and GI tract bleeding.
Blue-rubber bleb nevus syndrome, or "bean syndrome," consists of multifocal venous malformations in the skin and GI tract. On histology, the endothelium is intact but there is insufficient smooth muscle. Patients have a lifelong tendency toward bleeding and chronic anemia with increased risk for blood transfusion due to hepatitis or allosensitization.
The mucocutaneous pigmentation due to melanin deposition of Peutz-Jeghers syndrome is associated with increased morbidity from intestinal polyps and increased risk of invasive carcinoma. Among patients with Peutz-Jeghers syndrome, cancer develops primarily in the colon, the breast, the stomach, and the small intestine, among other locations.
GI symptoms develop in 50%-85% of patients with Henoch-Schönlein purpura. Multiple irregular ulcers, mucosal redness, duodenal petechia, and hematoma-like protrusions are most common.
Imaging screening for extracutaneous involvement of hemangioma of infancy is recommended if there are more than five cutaneous hemangiomas, one solitary large segmental hemangioma, or PHACES syndrome (the presence of posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities, and a sternal cleft). These extracutaneous lesions present mainly in the liver and GI tract.
Asymptomatic inflammatory bowel disease can present with mucocutaneous findings including skin tags, fistulas, fissures, or abscesses in the perianal and genital areas of 60%-82% of patients. These often will precede GI complaints in 25%-30% of cases, Dr. Dohil said. Oral lesions occur in 6%-20% of all patients with inflammatory bowel disease but in pediatric patients can be found in up to 80% with Crohn’s disease and 41% with ulcerative colitis.
Multiple skin lesions on the lower extremities are possible with pyoderma gangrenosum, an extraintestinal complication of inflammatory bowel disease. This is more common in patients of African-American descent with a family history of ulcerative colitis, or those with pancolitis at initial presentation. Avoid aggressive debridement in these patients because pyoderma gangrenosum has a predilection for areas of trauma, she advised. Treat with topical 0.5% nicotine cream, high-dose corticosteroids, or other immunomodulatory drugs.