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A 19-year-old Caucasian female was seen as an in-patient on the pediatric service of a teaching hospital for evaluation of severe mouth pain. According to the patient, she had been experiencing the pain over the past several weeks with increasing severity. The pain she was experiencing in her mouth was clearly affecting her mood and behavior, often causing her to become withdrawn and uncooperative. She had no history of tobacco, alcohol or drug use. The young woman had been hospitalized many times in the past for weight loss, dehydration and large bowel edema. During her present hospitalization she was being assessed for anorexia nervosa, systemic lupus erythematosus as well as inflammatory bowel disease. At present, she was discovered to have anti-nuclear antibodies as well as anti-histone antibodies. Her SS-A and SS-B titers yielded negative results. Her pediatrician started a course of famciclovir, for a suspected oral herpetic infection. Her only other medication was famotidine.
Intraoral examination by the Oral and Maxillofacial Pathology (OMFP) Service revealed large, superficial ulcerations affecting her lower labial mucosa and to a lesser extent, her upper labial mucosa. The right and left buccal mucosa had similar ulcerations. The involved mucosa was fragile and bled with light palpation. Her gingiva, hard and soft palate, tongue and floor of mouth all were uninvolved by the ulcerative process.
Figure 1
Superficial, ragged ulcerations of upper and lower labial mucosa.
Superficial, ragged ulcerations of upper and lower labial mucosa.
Figure 2
Superficial, irregular shaped ulcerations of the right buccal mucosa and lower labial mucosa
Superficial, irregular shaped ulcerations of the right buccal mucosa and lower labial mucosa
At the initial consultative examination by OMFP, a rash composed of vesicles and crusted lesions involving the skin of her chest and back was noted. The patient’s pediatrician denied the presence of genital or ocular lesions.
The distribution and characteristics of the oral lesions were inconsistent with recurrent herpes simplex as well as primary herpetic gingivostomatitis. However, because the patient was being evaluated for an immune disorder and possible immunosupression, and because she and her family refused a biopsy, cytologic smears of her ulcers were performed to rule out a diagnosis of an atypical presentation of herpes simplex infection. The cytologic smears revealed epithelial cells with enlarged nuclei and abundant cytoplasm. Perinuclear condensation of keratin and scattered multinucleated epithelial cells were noted. These findings were all suggestive of Tzanck cells seen in pemphigus vulgaris.
Figures 3A & 3B
Cytological smear: Perinuclear condensation of keratin, enlarged nuclei and multinucleated epithelial cells are evident.
Cytological smear: Perinuclear condensation of keratin, enlarged nuclei and multinucleated epithelial cells are evident.
These findings prompted the patient and her family to allow a biopsy of her buccal mucosa followed by a skin biopsy performed by the Dermatology Service. The oral and skin biopsies both demonstrated suprabasilar cleavage of the epithelium, acantholysis and Tzanck cells within the epithelial vesicles.
Figure 4
Biopsy of right buccal mucosa: Suprabasilar clefting noted in the surface mucosa
Biopsy of right buccal mucosa: Suprabasilar clefting noted in the surface mucosa
Figure 5
Tzanck cells noted in an intraepithelial vesicle
Tzanck cells noted in an intraepithelial vesicle
The biopsy results were consistent with a diagnosis of pemphigus vulgaris. The patient was subsequently sent for evaluation and treatment at a Vesiculo-Bullous Disease Clinic and continues to be followed by Pediatrics, OMFP and Dermatology. She is presently undergoing treatment.
Pemphigus vulgaris (PV) is an autoimmune disease which primarily involves the skin and oral mucous membranes. The vesicles and subsequent ulcerations noted in PV are due to antibodies directed against the adhesion molecule desmoglein 3, structures that aid in maintaining cell adhesion. Oral complaints frequently include oral discomfort, difficulty eating and swallowing. Weight loss is not uncommon. Intraoral examination will demonstrate widespread superficial and irregularly shaped ulcerations. Blisters can be induced with the application of pressure to the normal mucosa (Nikolsky sign). PV typically affects adults over the age of fifty, however, despite this patient’s young age, the presence of persistent oral ulcers should raise the possibility of PV as the diagnosis. Other conditions one might consider in a patient with diffuse oral ulcerations include erythema multiforme, benign mucous membrane pemphigoid, erosive lichen planus and recurrent aphthous stomatitis, particularly if there is a possibility of an underlying systemic disease. Since more than half of all cases of PV present with oral ulcerations prior to the onset of skin manifestations, had an OMFP consult been initiated earlier, a diagnosis of PV would have been rendered before the onset of the patient’s cutaneous lesions. Oral lesions may begin months to over a year prior to the development of cutaneous disease. It is believed that initiating treatment when only oral ulcers are present may prevent the development of extraoral manifestations. Because treatment itself is time consuming, costly and associated with serious, sometimes fatal side effects, a heightened level of suspicion is of utmost importance.