Posted on: February 9, 2011
Sweet's Syndrome (Neutrophilic Dermatosis) Occurring in Conjunction with Common Variable Immune Deficiency (CVID):
A Self-Reported and Rare Case History
Introduction:
My name is Yonatan Maisel. For starters, I am a patient, not a doctor. The reason I am reporting my case and entering it into the literature is the fact that medical literature contains only one documented case of Sweet's Syndrome and CVID (Common Variable Immune Deficiency) occurring concurrently, "Sweet’s Syndrome in Association with Common Variable Immunodeficiency" in the Journal Clinical and Experimental Dermatology, Volume 34, Issue 2, March 2009, (O'Regan GM, Ho WL, Limaye S, Keogan MT, Murphy GM).
Unfortunately, I have become the second documented case; that's not to say there are not other cases, but as far as case-reports in medical literature, this is only the second.
CVID and Sweet's: Two Rare Disorders Occurring Concurrenly:
Both conditions in and of themselves are very rare.
CVID, for example, affects approximately 1/50,000 to 75,000 persons.
Sweet's Syndrome is listed by the National Organization for Rare Disorders; only about 200 cases have been documented in medical literature. It is estimated that the prevalence of Sweet's Syndrome in males could be 1/125,000 persons - most cases of Sweet's Syndrome are found in females.
Both disorders occurring in conjunction with one another would be considered, primarily due to the fact that medical literature contains only one documented case, extremely rare.
Methodology:
This case report was written by me, the patient himself, for the sole purpose of documenting the genesis, progression and outcome of this unusual case. It is for educational purposes for healthcare professionals and patients alike. The information in this article is based entirely on my reporting, clinical and laboratory-based diagnostic tests (see diagnostic criteria in the .pdf page) and the diagnoses made by nationally and world-renowned experts in their fields of endeavor including Immunologists, Hematologists, Pathologists and Derma-Pathologists.
Patient History:
For the remainder of this article, though obviously I make no attempt to hide my identity, I will refer to myself as "the patient."
The patient is a married 44 year-old male, born in the United States. He immigrated to Israel in 1997. He has lived there since. The patient is physically active, exercises regularly with weights and maintains a stable body-weight of 205 lbs. (93 kg.). The patient has been treated in the past decade for both basal-cell and squamous-cell carcinoma.
2006: Diagnosis #1: Common Variable Immune Deficiency (CVID):
CVID Primer: CVID is believed to be a genetically determined Primary Immune defect. The result is that the patient doesn't produce any or sufficient antibodies in response to exposure to pathogens. As a result, the patient's immune system fails to protect them against common bacterial, viral, parasitic and protozoal infections. CVID predisposes a patient to markedly increased chances of developing many types of cancers. A 20-year survival rate is 64% for male patients and 67% for female patients with CVID.
**************
-Beginning approximately in the year 2000, the patient began to suffer from a myriad of infections including, but not limited to: URI, chest, ears, nose, throat, dental, eyes, sinuses, lungs, intestines. The infections often lasted well beyond the average expected duration and would return more frequently than expected. Multiple and prolonged cycles of powerful antibiotics, anti-parasistics and anti-fungals were often necessary to control infection.
In late 2006, a referral was made for a complete diagnostic blood test, including antibody count. The following trough immunoglobulin levels were recorded:
IgG: 560 (Normal Range = 750-1600)
IgM: 22 (Normal Range = 45-250)
IgA: 110 (Normal Range = 90-350)
These results led to a definitive diagnosis of Common Variable Immune Deficiency (CVID). Diagnosis was made by Professor Amos Etzioni of Haifa Israel's Rambam Medical Center and Professor Ora Paltiel of The Hadassah Medical Center, Jerusalem Israel.
A follow-up bone-marrow biopsy was performed which eliminated the possibility of malignancy.
Since diagnosis, the patient receives in-hospital IVIG (Intravenous Immunoglobulin) infusions every two weeks. (Brand: Sandoglobulin).
.
2008: High Fever and Mysterious Dermatological Manifestations Begin. Undiagnosed Sweet's Syndrome:
.
Outbreak confined to armpits, back, groin and legs. Body temperature of 103.9° F (39.9° C)
Lesion on back 1.6 in. diameter; site of the original puncture biopsy
Rash shown on right leg fading; 36 hours after beginning treatment with Prednisone (90 mg./day)
Beginning approximately 2 years ago, the patient began to suffer from severe skin outbreaks.
Lesions, some as large as 3.5 inches in diameter, began appearing on his body in regular intervals and with rapid onset. Often appearing in clusters, there were as many as 50 to 100 sores at a time, both large and small. Said lesions appeared mainly on the patient's legs, chest, back, armpits and neck. Occasionally, but infrequently they appeared on his face and arms.
The outbreaks always manifested in conjunction with fever, chills, sweating, joint pain, headaches, lymph-node swelling and malaise. The patient best describes the symptoms as "flu-like," often lasting for 2-3 days.
The patient was prescribed with Telfast 180 (fexofenadine). Although effective in treating less severe and dissimilar allergic rashes which the patient experienced, the drug had no effect on these larger and undiagnosed outbreaks.
During a particularly severe outbreak in September 2010, the patient presented himself to his family physician. A referral was made for a puncture biopsy.
2011: Diagnosis #2: Sweet's Syndrome:
Sweet's Syndrome Primer: Sweet's Syndrome is a very rare disorder characterized by the sudden onset of fever, leukocytosis, and painful, well-demarcated papules and plaques which demonstrate dense infiltrates by neutrophil granulocytes on pathological examination. Sweet's Syndrome often occurs in conjunction with various forms of cancer.
*************
On the 19th of September, 2010, a puncture biopsy was administered to one of the sores on the patient's back in the HMO's Dermatology clinic.
The results were received approximately one month later:
"Skin Showing Upper Dermal Neutrophilic Infiltrates with Spongiosis and Exocytosis and Few Eosinophils. The Changes May Be Consistent with Neutrophil-Rich Urticaria with Sweet-Like Changes."
The patient's consulting Immunologist, Professor Amos Etzioni of Rambam Medical Center concurred with the results and suspected Sweet's Syndrome.
Of particular interest is the patient's blood-borne Neutrophil levels. During times with no outbreak they have averaged approximately 2. During times of outbreaks, the levels have, in some cases, risen to over 9, an increase of approximately 400%. Without outbreaks, Neutrophil% has averaged 65 to 70%. During outbreaks, Neutrophil% has reached 90%.
For the purpose of a definitive diagnosis, the biopsy slides were sent to the Department of Pathology at Rambam Medical Center in Haifa, Israel. Professor Bergman, considered the pre-eminent national expert in the field of Dermo-Pathology, examined the slides and made the diagnosis of: Neutrophilic Dermatosis/Sweet's Syndrome
Follow-Up/Treatment:
Sweet's Syndrome can, according to medical literature, indicate the onset of certain malignancies. Due to the duration of the outbreaks, however, and the relatively good general health of the patient, the attending doctors were able, to a high degree, to rule out malignancies. A bone-marrow biopsy, however, has been recommended, and will be carried out in the near future.
The recommendation is that the patient be treated with corticosteroids during future outbreaks as the lesions have reacted well to stated treatment.
Prednisone, in an oral dose of 80-100 mg/day (3-5 days) has proven effective. During several more stubborn cases, dexamethasone I.V. (20 mg) has proven effective.
Due to the immune-suppressing characteristics of such classes of drugs, however, and the fact that the patient is already immune-deficient, it will be of interest to see the possible effect of the steroid treatment.
Discussion:
CVID and Sweet's Syndrome do not appear to be linked. Due to the lack of published cases, as so few cases exist, a cause-effect analysis does not exist. It might be of interest to health care professionals in the fields of Immunology, Hematology and Dermatology, however, that yet another case of the two occurring concurrently has been diagnosed.
The patient is open to discussing the details and aspects of his case.
He can be contacted at: yonatan.maisel@yahoo.com
.
