[Erythema nodosum during the course of idiopathic granulomatous mastitis]. / Érythème noueux au cours d'une mastite granulomateuse idiopathique.

BACKGROUND: Idiopathic granulomatous mastitis (IGM) is a benign, aseptic inflammatory disease of unknown origin, which must be distinguished from tumoral and infectious processes that affect the breast, including tuberculosis. IGM is a rare cause of erythema nodosum, but it is useful for dermatologists to be aware of this association. PATIENTS AND METHODS: A 32-year-old nulliparous woman presented with erythema nodosum, arthralgia and fever. On examination, she had a firm and painful mass of 5cm in the right breast with retraction and axillary adenopathy. The breast lump developed gradually over the preceding 4 months. Although two biopsies showed no evidence of atypical cells, inflammatory areas and a granulomatous process were seen. Culture of breast tissue for mycobacteria was negative. A diagnostic of idiopathic granulomatous mastitis was made. Systemic corticosteroids led to a reduction in size of the mass, but relapse occurred in the contralateral breast on dose-reduction of the corticosteroids. DISCUSSION: IGM is a rare disease of unknown aetiology. Diagnosis is based on characteristic histological features and exclusion of other granulomatous diseases. Extra-mammary signs are rare and include erythema nodosum, arthralgia and episcleritis. Management is poorly codified.

[Neutrophilic sebaceous adenitis in a woman]. / Adénite sébacée neutrophilique chez une femme.

BACKGROUND: Neutrophilic sebaceous adenitis is a very rare disease with only three reported cases, all involving men. Herein, we describe the first case in a woman. MATERIALS AND METHODS: A 25-year-old woman presented erythematous and indurated circinate plaques on the face, upper chest and upper limbs, associated with some pustules. The eruption started immediately after sunny holidays and extended progressively with low-grade fever and axillar polyadenopathies. Blood tests showed moderately elevated neutrophils and elevated erythrocyte sedimentation rate. Cutaneous biopsy showed an inflammatory infiltrate composed of lymphocytes, histiocytes and neutrophils with perisebaceous distribution, infiltrating sebaceous glands with focal necrosis of sebocytes. Treatment consisting of topical steroid and photoprotection quickly resulted in regression of the lesions, with no relapse after two months. DISCUSSION: Classically neutrophilic sebaceous adenitis presents as erythematous and violaceous, indurated, circinate plaques with raised edges on the face and upper chest. Spontaneous regression is frequently reported. Histological examination is typical with an inflammatory infiltrate containing neutrophils with primarily perisebaceous distribution and penetrating sebaceous glands in places with necrosis of sebocytes. The aetiology is unknown but in a recent case, photodermatosis was suspected because lesions occurred every summer. This hypothesis is consistent with our observation but the presence of lesions on non-exposed areas raises questions about heat as a possible trigger factor in this disorder.

Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

BACKGROUND: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder characterized by neonatal autoimmune enteropathy, diabetes and thyroiditis, food allergies and skin rash. IPEX syndrome is caused by mutations in FOXP3, a master control gene of regulatory T cells (Tregs), resulting in absent or dysfunctional Tregs. Data in the literature are scarce and the cutaneous manifestations are rarely depicted. OBJECTIVES: To evaluate the frequency and characteristics of cutaneous manifestations found in IPEX. METHODS: Retrospective single-centre study of a case series of IPEX. Patients' data were retrieved from medical files and numerous parameters concerning general and cutaneous characteristics of the disease were recorded. RESULTS: Ten children with IPEX were studied. Cutaneous involvement was present in seven of 10 children; age at onset was 0-4 months, median 1.5. All patients presented with atopic dermatitis (AD). Three presented more psoriasiform lesions. Eczema was severe; most affected areas were lower limbs, trunk and face. Pruritus was present in four of seven, and painful fissurary cheilitis in four of seven. Hyper-IgE was found in seven of 10 and hypereosinophilia in five of 10. Skin biopsies showed eczematiform or psoriasiform features. Affected patients were improved by dermocorticoids; no clear improvement was obtained with immunosuppressive regimens. Other features were urticaria secondary to food allergies and staphylococcal sepsis, mostly Staphylococcus aureus and catheter related. CONCLUSIONS: AD seems to be a frequent finding in IPEX syndrome, which is characterized by Treg anomalies. This hints to a possible role of Tregs in AD, which is then discussed in this study.

Sickle cell leg ulcers: a frequently disabling complication and a marker of severity.

BACKGROUND: Leg ulcers are a poorly known and underestimated complication of sickle cell disease (SCD), but in our experience they often appear as a severely disabling condition, associated with the most severe forms of the disease. OBJECTIVES: To assess the characteristics, complications, repercussion on quality of life and associations of SCD ulcers. METHODS: Case series of 20 patients followed in a French referral centre for SCD and who had previous/present leg ulcers. RESULTS: Median ulcerated area was 12 cm2 and median time spent with ulcers was 29.5 months. Locoregional infections developed in 85%, ankle stiffness in 50% and mood disorders in 85%. Ninety per cent of patients needed analgesics, 20% being opioids. Median loss of time from work was 12.5 months. The Short Form 36 Health Survey showed physical and mental component summary scores of 41.5 and 40.7, respectively, indicating severe alteration close to that found in lung cancer or haemodialysis. Two categories of SCD leg ulcers were distinguished, defined by a 1-year duration cut off. The 'prolonged' ulcers had larger surfaces, tended to recur more frequently and led to more infection and depression. Several SCD complications were associated with leg ulcers, notably priapism, pulmonary hypertension, stroke and acute chest syndrome. CONCLUSIONS: Leg ulcers are a major complication of SCD, given their severe consequences and frequent association with other specific organ damage, and they constitute in their 'prolonged' form a severely disabling condition that remains an important therapeutic challenge.