ABSTRACT
Orofacial granulomatosis (OFG) is the term given to a group of diseases characterized by the presence of non-necrotizing granulomatous inflammation affecting the soft tissues of the orofacial region. Treatment of OFG is often challenging and unsatisfactory. We report on a 32-year-old man with a 2-year history of oedema and swelling of the upper lip without systemic symptoms. The history, clinical features and histopathological findings led to the diagnosis of cheilitis granulomatosa (CG), a disease included in the spectrum of OFG. The patient was treated with oral diaminodiphenyl sulfone (DDS) and clofazimine without success. Oral doxycycline led to a slight improvement of the disease. Because the volume of the upper lip was twice normal size, surgical reduction was performed, followed by administration of oral doxycycline for 3 months. This therapeutic approach led to complete remission, with no recurrence after 3 years.
Subject(s)
Granulomatosis, Orofacial/surgery , Melkersson-Rosenthal Syndrome/surgery , Adult , Edema/etiology , Granulomatosis, Orofacial/complications , Granulomatosis, Orofacial/pathology , Humans , Lip/pathology , Male , Melkersson-Rosenthal Syndrome/complicationsABSTRACT
BACKGROUND: Mycosis fungoides (MF) is the most common cutaneous T-cell lymphoma. We previously reported that the prognosis of MF patients is not only related on clinical variables but it is also associated with peculiar HLA alleles. Until today, the association of HLA ligands for KIR with the prognosis of the disease has not yet been analysed. OBJECTIVE: We investigated the frequency of HLA ligands for killer cell Immunoglobulin-like receptors (KIRs) in MF patients, evaluating if the presence of particular HLA alleles that are ligands for KIR may have prognostic value. METHODS: The study includes 46 Caucasian MF patients that, between 1993 and 1997, underwent HLA genomic typing. All patients were diagnosed and followed up from 1977 to 2012 (mean follow-up of 11 years). RESULTS: MF patients have been divided into two groups (long survivors and dead patients). We noticed that the HLA-Bw6/Bw6 specificity increased among the group of seven dead patients compared to the group of 39 long survivors (71.4% vs. 41.0%, P = ns, OR = 3.59), while in the long survivors group the HLA- Bw4/Bw4 specificity increased when compared to dead patients (23.0% vs. 0%, P = ns). Moreover, we observed that six of the seven dead patients had HLA-DQB1*05; the phenotypic frequency of this HLA allele, in dead and long survivors patients, was 85.7% and 23.0% respectively (P = 0.004; OR = 20). CONCLUSION: Our observations suggest that the presence of the HLA-DQB1*05 alleles characterizes the patients with the poorest prognosis in MF. In addition, absence of the KIR-ligand epitope HLA-B Bw4 showed a trend of being more prominent in MF patients with the poorest prognosis.
Subject(s)
DNA, Neoplasm/analysis , HLA-DQ beta-Chains/genetics , Mycosis Fungoides/genetics , Receptors, KIR/genetics , Skin Neoplasms/genetics , Adult , Aged , Alleles , Disease Progression , Female , Gene Frequency , HLA-DQ beta-Chains/metabolism , Humans , Ligands , Male , Middle Aged , Mycosis Fungoides/metabolism , Mycosis Fungoides/pathology , Prognosis , Receptors, KIR/metabolism , Skin Neoplasms/metabolism , Skin Neoplasms/pathologySubject(s)
Hyperlipidemias/complications , Skin Diseases/etiology , Tattooing/adverse effects , Xanthomatosis/etiology , Adult , Alcoholism/complications , Diagnosis, Differential , Diet, Fat-Restricted , Diet, High-Fat/adverse effects , Exercise Therapy , Foam Cells/pathology , Humans , Hyperlipidemias/diet therapy , Male , Sarcoidosis/diagnosis , Skin/injuries , Skin Diseases/diagnosis , Skin Diseases/pathology , Smoking/adverse effects , Xanthomatosis/diagnosis , Xanthomatosis/pathologyABSTRACT
BACKGROUND: Mycosis fungoides (MF) is the most common and one of the least aggressive forms of cutaneous T-cell lymphoma. Several studies have demonstrated the influence of human leucocyte antigen (HLA) genes on the susceptibility of MF, highlighting the importance of certain alleles but, until today, no studies have evaluated the relationship between HLA alleles and the prognosis of patients with MF. OBJECTIVE: The aim of this retrospective cohort study was to evaluate the polymorphism of HLA class I and class II alleles in a group of 46 MF Caucasian patients, looking for their influence in susceptibility and prognosis of the disease. METHODS: Study population included a case-cohort sample of 46 Caucasian patients with MF that, between 1993 and 1997, underwent HLA class I and II genomic typing. All patients were diagnosed and followed up from 1977 to 2012 (mean follow-up of 11 years) and they were divided into three groups according to the evolution of the disease. RESULTS: Molecular typing at low-resolution level revealed that HLA-A*24, A*68, A*69, B*35 and DQB1*05:02 alleles were involved in susceptibility to MF. Correspondence analysis underlined that long-lasting remission was characterized by HLA-A*24 and HLA-A*25 alleles, frequent relapse by HLA-DRB1*01, DQA1*01:01, DQB1*05:01 alleles and death by HLA-A*68, HLA-B*08, HLA-B*35, HLA-C*03 alleles. CONCLUSION: This study suggests that the prognosis of MF patients is not only correlated with clinical/pathological/serological/immunological variables but it also relies on specific HLA alleles.
