Extensive study of DRB, DQA, and DQB gene polymorphism in 23 DR2-positive, insulin-dependent diabetes mellitus patients.

To gain insight into the HLA subregions involved in protection against insulin-dependent diabetes mellitus (IDDM) we investigated the polymorphism of HLA-DR and -DQ genes in 23 DR2 IDDM patients. Results show the following. (1) Fourteen patients (61%) possess the DRB1, DRB5, and DQB1 alleles found in DRw16/DQw5 healthy people. These data contrast with the 5% of DRw16 normally found in DR2 populations and are in agreement with former observations supporting that the DRw16 haplotype is not protective. (2) Nine DR2 patients, i.e., 39% versus 95% in published DR2 controls, possess the DRB alleles found in DRw15 unaffected people. Among them, six patients have also DQA1 and DQB1 alleles identical to those found in DRw15/DQw6 healthy individuals. These data confirm that the DRw15/DQw6 haplotype is protective but indicate that none of the DR or DQ alleles, alone or in association, confers an absolute protection. (3) Our most striking results concern the very high frequency of recombinant haplotypes among the DRw15 patients: 3 of 9. In these three patients recombinations led to the elimination of both DQB1 and DQA1 alleles usually associated with DRw15. This strongly suggests that the occurrence of IDDM in these DRw15 patients is due to the absence of the usual DQ product and thus reinforces the assumption that DQ rather than DR region is involved in the protection conferred by the DRw15/DQw6 haplotype. Finally, analysis of the non-DRw15 haplotypes in heterozygous patients showed that IDDM can occur in the absence of any DQ alpha beta heterodimer of susceptibility.     

Maladie cæliaque associée à un granulome sarcoïdosique cutané

Coeliac disease associated with cutaneous sarcoidosis granuloma.Coeliac disease can be associated with numerous internal, skin and mucosa involvments: their physiopathology is often obscure. We report the case of a 14-year old female patient who suffered from a coeliac disease diagnosed in 1988 with considerable improvement with a gluten-free diet. Her two daughters also presented coeliac disease and her sister suffered from nevoid basal cell carcinoma syndrome. Four years later, she presented non pruriginous small nodules over both lower extremities. Skin biopsy revealed a non-caseating granuloma into the derm: we only could evocate sarcoidosis affecting the skin. The dermatological lesions improved during the following weeks with a gluten free diet and relapsed each time this diet was stopped. Many clinical associations with coeliac disease have been described with numerous visceral and skin-mucosa involvments. Eight cases of coeliac disease associated with sarcoidosis affecting the lung have been reported: in five cases, coeliac disease preceded sarcoidosis and in one case sarcoidosis relapsed each time gluten was reinlroduced like in our case. This two diseases seem to share immunological and genetic disturbances.     

Microcystic adnexal carcinoma induced by multiple radiation therapy

We present an 84‐year‐old Caucasian man (Fitzpatrick classification: skin type II) with microcystic adnexal carcinoma (MAC) on his left cheek and a 15‐year history of recurrent squamous cell carcinoma (SCC) of the head, treated with numerous surgical interventions and multiple palliative 60‐Gy radiation therapy. In 1996, the patient developed a nontender, indurated, irregularly marked, erythematous lesion on his left cheek (1.5 × 1 cm). Furthermore, the patient suffered from radiodermatitis due to previous radiotherapy ( Fig. 1 ). Punch biopsy and a subsequent wedge excision showed features of both SCC and eccrine carcinoma. Histopathologic and immunohistochemical tests of the tumor revealed a diagnosis of MAC. The patient underwent Mohs' micrographically controlled surgery to obtain tumor‐free peripheral soft tissue margins. There was no evidence of any lymphatic invasion or distant metastasis in the physical and laboratory examination. So far, the patient has not developed any recurrences.

Figure 1 Open in figure viewer PowerPoint Clinical picture of MAC showing features of radiodermatitis     

Pili Torti with Congenital Deafness (Bjornstad Syndrome): A Case Report

We report Bjornstad syndrome in a 5-year-old girl with severe bilateral congenital loss of hearing and pili torti. The mode of inheritance of this rare syndrome seems to be heterogeneous. A maternal uncle of the patient was deaf from birth and his hair had shown the same abnormalities at the same age; an autosomal recessive transmission can be assumed.     

Pyramidal osseous release around the descending palatine artery: A surgical technique

A frequent site of osseous mechanical obstruction during Le Fort I maxillary impactions is the area of the descending palatine artery as it enters the tuberosity region. A surgical procedure is outlined, explaining how this area can be relieved without compromising the palatal blood supply.During a Le Fort I downfracture, the area around the descending palatine vessels is often not surgically cut. This region of fusion between the posterior/medial maxillary antrum, palatal bones, and pterygoid plates is fractured rather than osteotomized. Because of the intrinsic strength of the bone in this region, a high fracture commonly occurs. When the maxilla is impacted in a cephalad direction, there is often interference in this site preventing superior repositioning. Attempts to remove bone directly around the vessel are difficult and can lead to severing of the palatine artery. The surgeon, in an attempt to avoid vascular injury, may inadvertently leave bony contact posterior to the artery. This contact produces a deflection that causes rotation of the condyle inferiorposteriorly as the maxillary osteotomy is closed anteriorly. This can lead to immediate posfixation anterior open bite, as the condyle settles back into the fossa. To avoid this possibility, a surgical technique is described to remove posterior osseous interferences during Le Fort I osteotomies without violating the palatine vessels.     

Relationship between clinical findings of patients with bullous pemphigoid and antigens recognized by their circulating antibasement membrane zone antibodies

INTRODUCTION: Clinical features and extent of bullous pemphigoid lesions differed widely among patients. The pathogenic role of anti-BPAG2 antibodies has been recently demonstrated. The aim of this study was to analyze the relationship between clinical features of bullous pemphigoid patients and the antigens recognized by their serum. PATIENTS AND METHODS: One hundred and twelve bullous pemphigoid patients were included in this prospective multicenter study. Inclusion criteria were the following: 1) diagnosis of bullous pemphigoid established on the presence of 3 of the 4 clinical features of bullous pemphigoid, histological picture of bullous pemphigoid and positive direct immunofluorescence; 2) serum available for immunoblotting studies. The clinical and biological findings were prospectively recorded on standard forms. Sera were collected and analyzed using indirect immunofluorescence and immunoblotting on human epidermal extracts. RESULTS: Analysis of patient's clinical features depending on the antigens recognized by their serum showed that patients whose serum contained anti-BPAG1 antibodies had more frequently pruritus, blisters on the lower limbs and a positive indirect immunofluorescence. Patients whose serum contained anti-BPAG2 antibodies had blisters more frequently localized on the head, and a more frequently negative indirect immunofluorescence. Patients whose serum was negative by immunoblotting had less frequently urticarial and/or eczematous lesions, bullae less frequently localized on the lower part of the trunk, abdomen and lower limbs, lower eosinophilia and a more frequently negative indirect immunofluorescence. CONCLUSION: Patients with circulating anti-BPAG1 antibodies exhibited the most typical, clinical and biological features of bullous pemphigoid.