[CIS PIDD] [cis-pidd] oral aphthae in a family

[Patel, Niraj C]

Dear All,
I need some help with this young child with oral apthae.
4 yo girl with no medical problems began to have oral ulcers at age 2. The ulcers occur on the tongue, cheeks, gums, and are painful and sometimes associated with mild lip swelling. She has no other associated symptoms including no fever or rash. She doesn't have ulcers anywhere else. The oral ulcers have been treated with a cocktail of Maalox and lidocaine.
The interesting part is a family history of oral ulcers in father and grandfather, both of whom had oral ulcers since age 2. The grandfather responded to thalidomide treatment as well as chronic prednisone usage (ulcers returned when taken off prednisone). The grandfather also developed penile ulcers and was diagnosed with Behcet's disease and suspected pyoderma gangrenosum. He was treated initially with methotrexate followed by cellcept and prednisone with minimally improvement. A biopsy of the penile lesions was done which was suspicious for herpes simplex by biopsy and PCR. The biopsy reportedly did not show evidence of pyoderma grangrenosum, but I do not have the official report. Famvir, IV solumedrol, and cytoxan were added and his lesions improved by 75% but never resolved. The father, in contrast, had oral and esophageal ulcers but no genital ulcers, and reportedly did not respond to thalidomide. His apthae improved with prednisone. He also has recurrent oral thrush. A culture of the oral ulcers was negative for herpes simplex and he did not respond to an empiric course of famvir.
Lab work on the 4 yo girl:
Viral culture of oral ulcer: negative for herpes simplex
CBC with diff normal (WBC 6.9, ANC 3,500, ALC 2,700)
ESR 18 (mildly elevated), ANA negative
Immunoglobulins normal (IgG 718, IgA 58, IgM 90)
Vaccine responses normal (diphtheria, haemophilus, pneumococcus, tetanus)
Lymphocyte subsets normal (CD3 2028, CD4 1323, CD8 621, CD19 513, CD16/56 135)
NK function slightly low at all dilutions, Lytic Units = 2.2 (normal >2.6)
Any thoughts on how to proceed?
Thank you in advance,
Niraj


Niraj Patel, MD MS

Department of Pediatrics
Infectious Diseases and Immunology

Director, Immunology Clinic
Levine Children's Hospital
Carolinas Medical Center
PO Box 32861
Charlotte, NC 28232-2861

Tel:   (704) 381-6803
Fax:  (704) 381-6841
Appt: (704) 381-8840

Email: niraj.patel at carolinashealthcare.org<mailto:niraj.patel at carolinashealthcare.org>


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