Perforating necrobiosis lipoidica in a girl with type 1 diabetes mellitus: a new case reported

Necrobiosis lipoidica is an idiopathic dermatological condition that is strongly associated with diabetes mellitus. It is more commonly seen in women than men. The average age of onset is 30-40 years. Necrobiosis Lipoidica diabeticorum is an extremely rare finding in childhood diabetes. We describe the case of a 13-year-old girl who has had type 1 diabetes mellitus since she was 8 years old. The patient presented with 2 well-defined, persistent plaques with a depressed central area and elevated purple peripheral ring, one on the right thigh and the other over the lateral left leg. Histopathologic evaluation of the patient's biopsy confirmed the diagnosis of necrobiosis lipoidica with transfollicular elimination. Our patient is the second pediatric case described with perforating necrobiosis lipoidica. We review the literature and discuss clinical features, several complications, and the most recent treatment options for necrobiosis lipoidica in diabetic children.     

Composition corporelle des patients atteints de BPCO et son impact sur la fonction respiratoire

Introduction:

Despite fat-free mass index (FFMI) is one of the strongest predictive factors of survival during chronic obstructive pulmonary disease (COPD), there is a considerable lack of information regarding body composition in Tunisian patients with COPD.   Aim: Describe the body composition of Tunisian patients followed for COPD and examine the relationship between body composition and the severity of the disease.

Methods:

Cross-sectional study of patients with stable COPD. Body composition was assessed by bioelectrical impedance analysis. Pulmonary function tests (PFT) included spirometry with plethysmography and the six-minute walking test. The severity of dyspnea was assessed by the mMRC scale.

Results:

During the study period, 104 patients with stable COPD were included (average age= 65.9 years and average FEV1= 49.3%). Fifty-four percent of patients were GOLD D stage. According to the IMM, malnutrition was identified in 20.2% of cases. Patients with low FFMI were the most symptomatic, had a more severe air flow limitation and a more severe disease. The walking distance was lower in malnourished patients. However, FFMI was not significantly associated with exercise capacity.

Conclusions:

Malnutrition is highly prevalent in COPD patients and is correlated to the severity of the disease. Thus, body composition analysis should be considered in COPD patient management.     

Significant alleviation of Darier's disease with fractional CO2 laser

Darier's disease (DD) is a dominantly inherited genodermatosis with highly variable expression. It is characterized by symmetrical hyperkeratotic papules affecting seborrheic areas and extremities. The existence of unsightly lesions could lead to discomfort and social handicap. Conventional treatment consists of topical and systemic steroids and/or retinoids alleviating DD. Ablative lasers also have been used to treat these conditions with variable results and side effects. To the best of our knowledge, fractional CO2 laser has never been used to treat DD. We present a case of a 36-year-old woman with verrucous and hyperkeratotic plaques of the forehead significantly improved after two sessions of fractional CO2 laser treatment. Neither scars nor pigmentary disorders were noted.     

H syndrome: Clinical,histological and genetic investigation in Tunisian patients

H syndrome is a rare autosomal recessive disorder with characteristic dermatological findings consisting of hyperpigmentation and hypertrichosis patches mainly located on the inner thighs and multisystemic involvement including hepatosplenomegaly, hearing loss, heart abnormalities and hypogonadism. The aim of this study was to conduct a clinical and genetic investigation in five unrelated Tunisian patients with suspected H syndrome. Hence, genetic analysis of the SLC29A3 gene was performed for four patients with a clinical diagnosis of H syndrome. We identified a novel frame‐shift mutation in the SLC29A3 gene in a female patient with a severe clinical presentation. Furthermore, we report two mutations previously described, the p.R363Q mutation in a male patient and the p.P324L mutation in two patients of different age and sex. This paper extends the mutation spectrum of H syndrome by reporting a novel frame‐shift mutation, the p.S15Pfs*86 in exon 2 of SLC29A3 gene and emphasizes the relevance of genetic testing for its considerable implications in early diagnosis and clinical management.     

Metabolic syndrome in Tunisian psoriatic patients: prevalence and determinants

Background A significant association between psoriasis and the metabolic syndrome (MetS) has been frequently reported. Objective The aim of this study was to specify the main factors that determine the MetS in psoriatic Tunisian patients. Methods A case–control study has included 164 psoriatic patients and 216 controls. Results The prevalence of MetS was higher in cases than in controls but without statistical differences [35.5% vs. 30.8%, odds ratio (OR): 1.39 CI: 0.88–2.18; P = 0.095]. According to gender, the prevalence of MetS was significantly increased only in psoriatic women (47.4% vs. 30%, OR: 1.89, CI: 1.11–3.21; P = 0.01). A multiple logistic regression, considering the effect of age, and gender, showed that the prevalence of MetS was significantly higher in cases than in controls (OR: 1.73, CI: 1.06–2.82; P = 0.03). MetS components analysed seperately showed a significantly higher prevalence of decreased high‐density lipoprotein cholesterol (HDLc) (60.9% vs. 35.9%, OR: 2.77, CI: 1.8–4.27, P < 0.001) and for increased hypertension (50% vs. 40%, OR: 1.48, CI: 0.97–2.257, P = 0.04) in psoriatic patients. According to gender, HDLc was significantly decreased in both genders (male: OR: 2.075, CI: 1.24–3.47, P = 0.004; female: OR: 3.58, CI: 2.07–6.19, P < 0.0001), while hypertension was increased only in psoriatic men (OR: 2.09, CI: 1.24–3.51, P = 0.004) and abdominal obesity only in psoriatic women (OR: 2.31, CI: 1.30–4.11, P = 0.002). Conclusion Decreased HDLc is the main biological abnormality that characterized MetS in Tunisian psoriatic patients. Moreover, contrary to men, psoriatic women have shown a significantly higher prevalence of MetS, which is, in addition to decreased HDLc, mainly attributed to abdominal obesity.