Mechanics hands in patients with antisynthetase syndrome: 25 cases.

BACKGROUND: Antisynthetase antibodies (ASA) are directed against aminoacyl-tRNA-synthetases, ubiquitous enzymes of which eight types have hitherto been described. They are seen primarily in antisynthetase syndrome (ASS), in which diffuse interstitial lung disease is associated with inflammatory myopathy, joint involvement and cutaneous signs, in particular mechanic's hands. The aim of this study was to determine the prevalence and semiological characteristics of cutaneous involvement in patients presenting ASA. PATIENTS AND METHODS: We carried out a retrospective study of the medical files of patients with ASA diagnosed at the Strasbourg University Hospital between 1994 and 2009. RESULTS: We identified 22 women and 3 men presenting ASS (n=21), dermatomyositis (n=3) or sclerodermatomyositis (n=1). Mean age at the time of diagnosis was 56 years (12-79). The most commonly seen antibodies were anti-Jo1 (n=19), with the other cases of ASA involving anti-PL12 (n=3), anti-PL7 (n=2) and anti-EJ (n=1) antibodies. Five patients died from pulmonary complications. Mechanic's hands (characteristic plaques and papules along the edge of the first fingers on both hands) were found in 10 patients with ASS (7 cases) or dermatomyositis (3 cases), at the time of diagnosis in 7 cases and during a systemic episode in 3 cases. Muscular involvement was seen in all patients: 9 had diffuse interstitial lung disease and 8 had joint involvement. Cutaneous signs regressed totally or partially in all patients under treatment; in 6 patients, worsening was seen during systemic episodes of the disease. One of the 10 patients died through pulmonary complications. DISCUSSION: Mechanic's hands are a key indicator in cases of ASA and its outcome is intimately linked with underlying systemic involvement, particularly pulmonary. The characteristic semiology enables this disorder to be recognised and allows differentiation from psoriasis or irritant contact dermatitis of the hands, and it does not vary according to antibody. Whether or not the disease is life-threatening is unaffected by the presence of this sign.

Abnormal lipid storage related to adipocyte shrinkage in acquired partial lipodystrophy (Barraquer-Simons syndrome).

BACKGROUND: Acquired partial lipodystrophy (APL) is characterized by the gradual symmetrical loss of subcutaneous fat starting from the face, spreading towards the upper part of the body and sparing the lower extremities. OBJECTIVE: We report a 33-year-old woman with facial lipodystrophy, loss of buccal fat pads and breast fat tissue. The subcutaneous fat was preserved in other anatomic regions, and we noted some excess of fat accumulation in the lower abdomen and thighs. She had a low serum level of C3 that was positive for a polyclonal immunoglobulin C3NeF in the serum. She was diagnosed with APL. METHODS: We examined fat from lipoatrophic and healthy areas and compared it to subcutaneous fat samples from a healthy control. RESULTS: Using scanning electron microscopy, we saw shrunken adipocytes with numerous small lipid droplets detaching from the surface of the adipocytes as compared to the classic aspect of adipose tissue in the control subject where the cytoplasm is occupied by one big lipid droplet. A loss of contact between adipocytes was observed in the APL patient when compared to the normal network of adipocytes in the control subject. The healthy fat seemed not affected by lipoatrophy; we observed normal-sized adipocytes, though their surface was not as regular as in the control samples. CONCLUSION: The significance and mechanism of the electron microscopic findings are unknown, but they suggest adipocyte shrinkage related to a defect in the retaining triglycerides, which could contribute to the pathogenesis of this disorder.

[Macular arteritis]. / Artérite maculeuse.

BACKGROUND: A new clinicopathological entity has recently been described under the term of "macular arteritis". It is characterized by erythematous and hyperpigmented macules on the lower limbs having a chronic and indolent course. Histopathological examination shows lymphocytic arteritis of varying severity with intense hyalinised necrosis of a vessel with a smooth muscle wall. We report a new case of this condition. PATIENTS AND METHODS: A healthy 39-year old woman consulted for a 3-year history of a painless, non-pruritic eruption. She had multiple erythematous-purplish macules on the lower limbs. A skin biopsy showed severe lymphocytic arteritis with fibrinoid necrosis of the vascular wall and endoluminal thrombus, associated with perivascular lymphocytic infiltrate. This inflammation concerned the arteries of the deep dermis and of the superficial hypodermis. There were no neutrophils or eosinophils. There was no clinical or laboratory evidence of any extracutaneous signs. DISCUSSION: The clinical peculiarity of macular arteritis is the non-infiltrated and painless character of the primary lesion, in contrast with the classic lesions described in vasculitis, which are palpable and sometimes painful. In all cases described, the course is indolent with no associated systemic signs. The distinguishing histopathological characteristic is the presence of an intense lymphocytic infiltrate all around the arterial wall, associated with hyalinised necrosis and thrombosis of the vascular lumen. The histological picture is unusual and does not correspond to classical arterial abnormalities, in particular periarteritis nodosa. This clinicopathological entity seems original and is probably somewhere between inflammatory vasculitis and thrombotic vasculopathy. CONCLUSION: Lymphocytic macular arteritis is a new and recently defined clinicopathological entity characterised clinically by an elementary macular lesion and histopathologically by a picture of lymphocytic arteritis.

[Four cases of photopheresis treatment for cutaneous lupus erythematosus refractory to standard therapy]. / Traitement par photochimiothérapie extracorporelle de quatre cas de lupus érythémateux cutané réfractaires aux traitements conventionnels.

BACKGROUND: Photopheresis is a leucopheresis procedure in which cells are photoactivated by psoralen and then irradiated by ultraviolet A. We report four cases of women with refractory cutaneous lupus erythematosus (LE) who responded to this treatment. PATIENTS AND METHODS: We treated one patient with subacute LE having a contraindication to antimalarials and to thalidomide and three patients with chronic LE (lupus panniculitis, lupus tumidus and disseminated discoid LE) refractory to treatment with hydroxychloroquine, chloroquine, thalidomide and dapsone, and also, in some cases, to oral and intravenous corticosteroids, methotrexate, colchicine, acitretine, sulfasalazine, mycophenolate mofetil and intravenous immunoglobulin. Treatment consisted of two 4-hour sessions fortnightly. Only antimalarials were continued during photopheresis. RESULTS: Photopheresis had a positive effect on all four patients. We noticed complete remission in two patients and interruption of progression followed by partial remission in the other two after a mean delay of two to three months of treatment. All treatments other than antimalarials were stopped. DISCUSSION: Photopheresis appears to be an effective treatment option in patients with cutaneous LE. Due to its high cost, it should nevertheless remain an exceptional therapeutic option restricted to patients with cutaneous LE resistant to standard therapy.