Renal involvement in mitochondrial cytopathies

Mitochondrial cytopathies constitute a group of rare diseases that are characterized by their frequent multisystemic involvement, extreme variability of phenotype and complex genetics. In children, renal involvement is frequent and probably underestimated. The most frequent renal symptom is a tubular defect that, in most severe forms, corresponds to a complete De Toni-Debré-Fanconi syndrome. Incomplete proximal tubular defects and other tubular diseases have also been reported. In rare cases, patients present with chronic tubulo-interstitial nephritis or cystic renal diseases. Finally, a group of patients develop primarily a glomerular disease. These patients correspond to sporadic case reports or can be classified into two major defects, namely 3243 A>G tRNALEU mutations and coenzyme Q10 biosynthesis defects. The latter group is particularly important because it represents the only treatable renal mitochondrial defect. In this Educational Review, the principal characteristics of these diseases and the main diagnostic approaches are summarized

Les pneumopathies d'hypersensibilité en milieu professionnel

International audienceINTRODUCTION: Hypersensitivity pneumonitis (HP) is a granulomatous disease of the lungs due to immune reactions following chronic inhalation of organic dusts or chemicals especially encountered in the occupational environment. The main purpose of this review is to report current concepts regarding aetiologies, epidemiology, diagnosis, treatment as well as legal aspects of HP. STATE OF THE ART: The following aspects will be focused: (1) increase in new etiological circumstances, especially occupational and news antigens, (2) for diagnosis, the major contribution of chest high resolution CT scan which often shows characteristic images but also recent developments in simple diagnostic criteria that may be used for an epidemiological approach, (3) importance of bronchial obstruction and even emphysema as a long term sequelae, finally (4) the possibility of continuing occupational activities in certain circumstances where preventive measures can be used. PERSPECTIVES: The increasing knowledge of etiological agents and circumstances as well as the development of secondary and especially primary preventive measures should lead to reduce the frequency of this disease and of its medico-social consequences

Panniculite lipoatrophiante de l’adulte : traitement par hydroxychloroquine

International audienceBACKGROUND: Lipoatrophic panniculitis is generally considered to be a rare disease affecting children. We report a case involving this condition in an adult patient presenting with striking clinical features and responding to hydroxychloroquine therapy. We discuss the nosological relationship between lipoatrophic panniculitis and connective tissue panniculitis.PATIENTS AND METHODS: A 62-year-old woman was referred to our institution with a six-month history of painful erythematous nodules and plaques on the calves, thighs, buttocks, breasts, abdomen and arms. With each outbreak of new lesions, she felt unwell and experienced fever, chills and sweating. After a few weeks, the lesions progressed circumferentially and led to large areas of subcutaneous atrophy showing a central depression covered with a yellowish, supple skin and surrounded by an annular, infiltrated, erythematous and tender inflammatory margin. Deep subcutaneous biopsy specimens showed typical features of lobular and septal lipophagic panniculitis, with a dense inflammatory infiltrate composed of large histiocytes, multinucleated giant cells and few neutrophils, without vasculitis. The patient was started on hydroxychloroquine 400 mg daily. Three weeks later, her pain and tenderness had completely resolved and the inflammatory margin of the lesions had clearly regressed.DISCUSSION: This unique condition, with distinctive clinical and histological features, is similar to cases described under the term "lipophagic panniculitis", seen mostly in children, but also "connective tissue panniculitis". Their clinical resemblance and response to hydroxychloroquine therapy leads us to think that these two entities, previously subsumed under the eponym of Weber-Christian disease or Rothman-Makai syndrome, are closely related.CONCLUSION: Dermatologists and dermatopathologists should be made aware of this unusual entity, and of the fact that it can arise in adult patients, so that they may make an early diagnosis and thus prevent the unsightly consequences of lipoatrophy.</p

Nail Unit Blue Nevi: A 11-Case Series and Review of the Literature

Background: Blue nevus of the nail apparatus is a rare entity and only isolated cases are reported in the literature. Objective: The aim of this study was to better characterize blue nevus at the nail unit. Methods: Retrospective analysis of all nail unit blue nevi from the Nail Group of the French Society of Dermatology was compared to the literature. Results: Eleven cases were retrieved from 2002 to 2019 with an average age of 45 years. The majority were women (9/11) and acquired (10/11). Hands were more frequently involved (9/11) with a predilection for the thumb and 2 cases were located on the hallux. Nail unit blue nevus mostly presented as a well-delimited blue spot of the lunula (9/11) and histologically was of the common type (10/11). There was no malignancy. Conclusion: Nail unit blue nevus is a rare asymptomatic benign entity, mostly acquired on the thumb or the hallux of women. The most frequent presentation is a painless blue spot on the lunula. Congenital blue nevi seem to only affect the paronychium. Main differential diagnosis is melanoma and histopathological examination is mandatory.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Primary cutaneous large-cell lymphoma: analysis of 49 patients included in the LNH87 prospective trial of polychemotherapy for high-grade lymphomas

The objectives of this study were to evaluate the outcome after polychemotherapy for patients with primary cutaneous large-cell lymphomas (PCLL) and to validate the recently proposed immunohistologic classification of cutaneous lymphomas. Among 140 patients with positive skin biopsies included in the LNH87 protocol (for treatment of aggressive lymphomas), 49 patients met the criteria of ROLL, Characteristics were: sex ratio M/F, 2.3; age 18 to 83 years (median, 52), peripheral lymph nodes, n = 22; diffuse disease, n = 12; median tumor size, 4.5cm; elevated lactate dehydrogenase, n = 9; ECOG: 0/1, n = 49. Histology was: follicular center B cell, n = 23; B-lymphoblastic, n = 1; anaplastic large-cell lymphoma, n = 14 (T cell phenotype n = 8); CD30(-) T cell lymphoma, n = 11. All patients received polychemotherapy: under 70 years, ACVBP (three to four cycles and consolidation for 6 months) n = 25; mBACOD (eight cycles) n = 16; over 70 years, C(T)VP (six cycles) n = 8, Radiation therapy was not included in the protocol, With a median follow-up of 5 years, 24/49 patients had relapsed, with 20 skin relapses. Event-free (EFS) and overall survival (OS) at 5 years were, respectively, 50 and 77%, Significant adverse prognostic factors were: histology (CD30(-) T cell lymphoma) and diffuse cutaneous disease (>10% of skin), The presence of nodal involvement was only significant for EFS. When compared to 140 non-cutaneous lymphoma patients included in the same trial and fully matched for the main clinical characteristics, OS was similar, In conclusion, PCLL behaves like other localized B or T cell extranodal lymphomas with the same prognostic factors (LDH, ECOG, age) except for CD30(+) PCLL which have a very good prognosis