Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.

BACKGROUND: Mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3, have been implicated in syndromic forms of histiocytosis including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, Faisalabad histiocytosis and Familial Rosai-Dorfman disease (RDD). Herein, we report five new patients from a single family who present with phenotypes that associate features of H syndrome and Familial Rosai-Dorfman disease. METHODS: We investigated the clinical, biochemical, histopathological and molecular findings in five Tunisian family members' diagnosed with Familial RDD and/or H syndrome. The solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3) gene was screened for molecular diagnosis using direct Sanger sequencing. RESULTS: Genetic analysis of all affected individuals revealed a previously reported missense mutation c.1088 G > A [p.Arg363Gln] in exon 6 of the SLC29A3 gene. Four affected members presented with clinical features consistent with the classical H syndrome phenotype. While their cousin's features were in keeping with Familial Rosai-Dorfman disease diagnosis with a previously undescribed cutaneous RDD presenting as erythematous nodular plaques on the face. This report underlines the clinical variability of SLC29A3 disorders even with an identical mutation in the same family. CONCLUSION: We report a rare event of 5 Tunisian family members' found to be homozygous for SLC29A3 gene mutations but showing a different phenotype severity. Our study reveals that despite a single mutation, the clinical expression of the SLC29A3 disorders may be significantly heterogeneous suggesting a poor genotype-phenotype correlation for the disease.

Paclitaxel extravasation treated with systemic corticosteroids.

Chemotherapy extravasation is a rare but severe cutaneous complication associated with administration of intravenous chemotherapy. Extravasation causes serious disability and diminishes the quality of life in patients with cancer undergoing antineoplastic therapy. Treatment of chemotherapy extravasation is not standardized. We report a patient with paclitaxel extravasation who was successfully treated with corticosteroids.

[Gabapentin-induced cutaneous leukocytoclastic vasculitis]. / Vascularite cutanée leucocytoclasique induite par la gabapentine.

We describe the case of a woman who developed a cutaneous leukocytoclastic vasculitis following a treatment with gabapentine.

[Not Available]. / Vascularite cutanée leucocytoclasique induite par la gabapentine.

We describe the case of a woman who developped a cutaneous leukocytoclastic vasculitis following a treatement with gabapentine.

Atypical truncal necrobiosis lipoidica: The role of dermoscopy.

Necrobiosis Lipoidica (NL) is a rare granulomatous skin condition typically occurring in lower extremities. We report an atypical case of NL, and we highlight the role of dermoscopy in the diagnostic approach.

Acute generalized exanthematous pustulosis: Analysis of cases managed in a Tunisian tertiary hospital.

Acute generalized exanthematous pustulosis (AGEP) is a severe and life-threatening cutaneous adverse reaction. Drug-induced AGEP is mainly related to antibiotics. More recently, AGEP following spider bites has been increasingly described. Treatment includes withdrawal of the offending drug and supportive care. In Tunisia, data concerning severe cutaneous adverse reactions (SCARs) in general and especially AGEP is lacking. Herein, we conducted a retrospective study to investigate the epidemiological, clinical characteristics and etiologies of AGEP referred to the Dermatology department. Our study included 32 cases of AGEP. AGEP cases occurred in overall 8.9% of all SCARs referred to the department during the same period study. The majority were females (24 women and 7 men). The median age of the patients was 33 years. A history of psoriasis was reported in 16.1% of patients. All patients presented with an extensive erythematous rash with pinhead pustules. Neutrophil hyperleukocytosis (greater than 7000/mm3) was noted in 17 patients (63% of cases). It was associated with hypereosinophilia exceeding 500 elements/mm3 in 8 cases (29.6%). Drug-induced AGEP was reported in 53% of cases. Antibiotics were implicated in the majority of cases. Delay in onset ranged from 15hours to 7 days, with an average of 2.8 days. A non-drug-induced etiology was considered if the pharmacological investigation was negative, or if a clear non-drug trigger was found. It was retained in ten cases (48.4% of all observations). Spider bites were revealed in 8 cases. AGEP represents a severe, usually drug-related skin reaction. It is classified as a type IVd reaction mediating T cell-related sterile neutrophilic inflammatory response. It typically occurs within 24-48 h of ingestion of the offending drug. Antibiotics are the most common drug family to cause AGEP. Spider bites were involved in 25.8% of cases in our study, as important as antibiotic-induced AGEP. Analysis of the particularities of AGEP according to etiology, whether drug-induced or not, revealed the presence of an initial escarotic lesion (P=0.01) and the finding of blood hypereosinophilia (P=0.014) in the non-drug AGEP group were the distinguishing features. Blood hyperesoniophilia, more frequent in the non-drug AGEP group, suggests a pathophysiology probably different from that of the drug AGEP group. Clinicians should be aware of both etiologies. Our study focuses on the importance of AGEP associated with spider bite as a potential triggering factor in Tunisia.

Cutis verticis gyrata in a 24-year-old young man revealing a T-cell lymphoblastic lymphoma.

T-cell lymphoblastic lymphoma (T-LBL) is frequently revealed by amediastinal mass or peripheral lymphadenopathy. Skin lesions in T-LBLusually present as multiple nodules associated with multiple peripherallymphadenopathy and bone marrow invasion. Our patient is particular bythe revealing presentation of the lesions as Cutis verticis gyrate.

Childhood linear IgA bullous dermatosis in Tunisia.

The objective was to determine the demographic characteristics, the clinical features, the immuno-histological findings and response to treatment of childhood linear IgA bullous dermatosis (LABD) in Tunisia. We collected all the cases of auto-immune bullous diseases of childhood, diagnosed from January 1987 to December 2006. Based on clinical, histological, and immunofluorescent features, we identified 25 cases of LABD. Sixteen male and nine female children with a mean age of 7.5 years were identified. Clinical manifestations were characterized by a vesiculo-bullous eruption in all cases associated with mucous membrane involvement in two cases. Dapsone was the main therapy in 19 cases, associated with systemic corticosteroids in eight cases. Exclusive antibiotic therapy was successful in five cases. Sixteen of those patients had resolution of disease after a mean period of 15 months and eight patients had severe clinical presentation and required a prolonged follow-up. Childhood LABD is the most frequent bullous dermatosis in Tunisia. The majority of our patients responded rapidly to dapsone treatment and were stabilized for long time. Our cases were characterized by a minimal mucosal involvement and favorable outcome. Treatment with antibiotherapy was interesting. Erythromycin and oxacillin may be considered as an alternative therapy.

Alopecia areata in Tunisia: epidemio-clinical aspects and comorbid conditions. A prospective study of 204 cases.

BACKGROUND: Alopecia areata (AA) is an autoimmune condition that usually presents as patchy, nonscarring hair loss. Autoimmune disorders and atopy are reported as comorbid conditions. We aimed to investigate the demographics, clinical characteristics, and associations of AA in Tunisian patients. METHODS: Demographic data, pattern of alopecia, age of onset, and associations were evaluated in 204 patients from January 2012 to June 2016. RESULTS: Two hundred and four cases of AA were seen. The male to female ratio was 0.68. The mean age at presentation was 23 years old. Positive family history was noticed in 22.1% of patients. Personal history of atopy was associated with AA in 18.1%. Associated autoimmune diseases were thyroid disorders (12.7%), vitiligo (1.5%), psoriasis (three cases), type 1 diabetes (two cases), autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome (two cases), lichen sclerosus atrophicus (one case), and pemphigus vulgaris (one case). Patchy AA was the most common manifestation (49.5%) followed by alopecia universalis (27.5%), alopecia ophiasis (12.7%), and alopecia totalis (10.3%). Nail changes consisting of pitting, trachyonychia, and longitudinal ridging were reported in 24.8%. AA patterns were more severe in females (P = 0.049). Severe forms showed more persistent disease duration (P = 0.005), earlier onset (P = 0.001), and more recurring episodes (P = 0.002) and were significantly associated with nail involvement (P < 0.001). CONCLUSIONS: Our study aimed to review epidemio-clinical characteristics and comorbid conditions of AA in Tunisian patients. More severe cases with a pejorative value of early-onset AA, long disease duration, and nail involvement were seen in our study.

Captopril-induced lichen planus pemphigoides.

PURPOSE: To report a rare case of lichen planus pemphigoides (LPP) possibly induced by captopril. CASE SUMMARY: A 74-year-old woman developed pruriginous and bullous lichenoid eruption after starting captopril for hypertension. Histopathological and immunological features were consistent with the diagnosis of LPP that was managed by discontinuing captopril and corticosteroid therapy. Eight months after the cessation of oral steroid therapy, no relapse had occurred. DISCUSSION: LPP, a rare skin disorder, has been generally considered to represent a mixture of clinical, histopathological and immunological patterns of lichen planus and bullous pemphigoid. It is predominantly idiopathic. However, in rare cases it has been associated with the administration of drugs. Here we present a typical LPP related to the use of captopril. CONCLUSIONS: Clinicians should be aware of the ability of captopril to induce LPP.

Post traumatic amelanotic subungual melanoma.

Subungual melanomas are rare; a delay in the diagnosis is common and is associated with advanced stage. Part of the reason for a delay in presentation to the physician is that patients often attribute the lesion to trauma. Trauma may play a role in the pathogenesis or just draw attention to a skin tumor that may be more susceptible to injury. We report a case of subungual melanoma that was observed in an 86 year old man. The preceding trauma history and misleading clinical appearance delayed the diagnosis slightly. Biopsy of every nodular acral tumor is very important. A direct role of the trauma in the pathogenesis of melanoma remains unclear.