Early-onset granulomatous arthritis, uveitis and skin rash: characterization of skin involvement in Blau syndrome.

BACKGROUND: Blau syndrome (BS) is a rare monogenic autoinflammatory disease caused by NOD2 mutations. BS classically presents in early childhood as a triad of granulomatous polyarthritis, uveitis and skin involvement. Joint and ocular involvement have been characterized by several cohort studies but only very little data are available on skin lesions. OBJECTIVES: We aimed to provide a detailed clinical and microscopic analysis of skin manifestations and to study whether they may contribute to an early diagnosis. METHODS: We conducted a retrospective multicentre study in a French cohort of 21 patients diagnosed with genetically confirmed BS. RESULTS: Skin involvement was the first clinical manifestation of BS in 15/16 patients with dermatological manifestations. The presence of skin lesions was associated with significant shorter age at diagnosis (P = 0.03) and diagnostic delay (P = 0.04). Dermatological assessment allowed an earlier diagnosis (P = 0.001) and reduces the diagnostic delay (P = 0.007). Early skin lesions had a homogeneous, stereotypical clinical presentation, namely non-confluent erythematous or pigmented millimetric papules in 13/14(93%) patients. In contrast, skin lesions occurring during later disease stages had a more heterogeneous clinical presentation, including ichthyosiform dermatosis, panniculitis, livedoid lesions and vasculitis. Whatever their time of occurrence and the clinical aspect, all biopsied showed histologically presence of granuloma. CONCLUSION: Skin involvement in BS is the earliest clinical manifestation of the BS in the large majority of patients. The recognition of dermatological manifestations as granulomatous skin lesions and early dermatological expertise are the key to an early diagnosis of BS. In view of our results, it seems reasonable to propose a simplified view of skin lesions of BS in which the granuloma is the key structure.

Extraskeletal mesenchymal chondrosarcoma: case report and review of the literature.

A case of extraskeletal mesenchymal chondrosarcoma in a 62-year-old woman is reported. This unusual sarcoma was localized in the right thigh (quadriceps) and treated with a combination of surgery, chemotherapy and radiotherapy. Sixty-three cases were found in the literature, with neurologic localization in 29 cases and muscular localization in 34 cases. Among clinical features, a significant difference in age at the time of diagnosis was found between the two localizations, which strongly suggests the possibility of two different types of extraskeletal mesenchymal chondrosarcoma.

Cytogenetic studies in twelve patients with primary myelofibrosis and myeloid metaplasia.

Chromosome studies on bone marrow and/or peripheral blood cells without phytohemagglutinin were performed on 12 patients with primary myelofibrosis with myeloid meta-plasia (PMMM) between 1980 and 1984. Abnormal clones were found in six patients (50%). In five cases the abnormal clone involved the long arm of chromosome #7, two of which also had partial trisomy of chromosome #1 and trisomy of 9. Additional abnormalities involving chromosomes #3, #5, #11, #13, #15, and #21 were each found once. Review of the literature showed few studies on the cytogenetics of PMMM. No specific chromosomal pattern can be established; however, abnormalities described are nonrandom.

[Familial myeloma. Apropos of a case]. / Myélome familial. A propos d'un cas.

2 cases of multiple myeloma, both with IgG kappa, are reported in a man and his daughter. 33 other cases of myeloma involving two or more first degree relatives have been reported in the literature. Reported cases showed no major specific characteristics of the myelomas involved. Monoclonal protein family members were rarely identical. Our observation of identical monoclonal protein in two family members has only been found in 4 other reports. Occurrence of several cases of myeloma in one family is unlikely to be due to chance alone and the possibility of familial myeloma must be considered. Reports of benign monoclonal gammapathy in other members of the family of a patient with myeloma is also in favor of genetic factors. HLA-typing has shown an increase in frequency of the 4c complex and HLA-A9 in myeloma, and the latter was present in our patients. A genetic predisposition is further supported by experimental observations in mice. Finally, the short delay between onsets of myeloma in family members, less than 5 years in 20 families out of 27, and 4 years in our case, suggests a possible role of environmental factors.

[Retinal vasculitis in lupic disease]. / Vascularites rétiniennes au cours de la maladie lupique.

Three cases of retinal vasculitis in SLE-type diseases are reported. The first was central retinal vein occlusion occurring during clinical remission of SLE in a 55 year old black female. Prednisone maintenance therapy was unchanged and visual loss rapidly regressed with heparin therapy. The second case was a 33 year old black female in whom SLE was discovered following relapsing bilateral optic neuritis. A progressive visual improvement was obtained with high dose of prednisone (1 mg/kg/day). The third cas was a 17 year old white girl with retinal vasculitis. She had an unclassified connective tissue disease inaugurated by optic neuritis at the age of 10. High dose prednisone (1 mg/kg/day) was effective on the visual loss. Retinal vasculitis lesions in SLE and their therapy are reviewed.

[Retinal vasculitis in systemic lupus erythematosus]. / Vascularite rétinienne au cours du lupus érythémateux disséminé.

The authors report three patients with systemic lupus erythematosus (S.L.E.) who developed primary retinal vasculitis. All patients showed evidence of four American Rheumatism Association diagnostic criteria for S.L.E. The first case consisted of a woman with retinal central vein occlusion. Auto-immunization against retinal S antigen was present. She improved under heparin therapy. In the second case, a young girl had chronic optic disk vasculitis for seven years. In the third case, retinal arterial occlusive disease was present with optic nerve involvement. The differential diagnosis with multiple sclerosis is discussed. S.L.E. is considered as autoimmune disease where circulating immune complexes play a major role in the pathogenesis. The ocular complications are probably a manifestation of the widespread systemic disease in patients without arterial hypertension. The authors summarize the ocular findings in S.L.E.: venous obstruction, constriction of retinal arteries, capillary vasculitis and disc neuritis. In some cases, there may be the first manifestations of the disease.