Amina Aounallah

Hemophagocytic lymphohistiocytosis: an unusual complication of leprosy

Hemophagocytic lymphohistiocytosis (HLH) is a rare condition of chaotic uncontrolled immune system stimulation and not fully understood pathophysiology. Most reported cases of hemophagocytic syndrome in patients with mycobacterial infections have been associated with Mycobacterium tuberculosis. As far as we could ascertain, to date, no established HLH case complicating leprosy has been published in the medical literature.

H syndrome with histological features of Langerhans cell histiocytosis

1. Rossetto JD, Nascimento H, Muccioli C, Belfort R Jr. Essential trichomegaly: Case report. Arq Bras Oftalmol 2013;76:50‐1. 2. Paul LJ, Cohen PR, Kurzrock R. Eyelash trichomegaly: Review of congenital, acquired, and drug‐associated etiologies for elongation of the eyelashes. Int J Dermatol 2012;51:631‐46. 3. Almagro M, del Pozo J, García‐Silva J, Martínez W, Castro A, Fonseca E. Eyelash length in HIV‐infected patients. AIDS 2003;17:1695‐6. 4. Vij A, Bergfeld WF. Madarosis, milphosis, eyelash trichomegaly, and dermatochalasis. Clin Dermatol 2015;33:217‐26. 5. Fabbrocini G, Panariello L, Cacciapuoti S, Bianca D, Ayala F. Trichomegaly of the eyelashes during therapy with epidermal growth factor receptor inhibitors: Report of 3 cases. Dermatitis 2012;23:237‐8.

A novel nonsense ATP2C1 mutation causes Hailey-Hailey disease in a Tunisian family

© Our Dermatol Online 2.2018 110 How to cite this article: Chourabi M, H’mida-Ben Brahim D, Bonnard C, Aounallah A, Yu Ng A, Tohari S, Venkatesh B, Saad A, Boussofara L, Reversade B, Denguezli M. A novel nonsense ATP2C1 mutation causes Hailey-Hailey disease in a Tunisian family. Our Dermatol Online. 2018;9(2):110-113. Submission: 29.09.2017; Acceptance: 06.01.2018 DOI: 10.7241/ourd.20182.1 A novel nonsense ATP2C1 mutation causes Hailey-Hailey disease in a Tunisian family

Amelanotic melanoma arising in an area of SLURP-1 mutated Mal de Meleda

A 70-year-old patient, from consanguineous nonaffected parents, was followed up for a congenital transgrediens PPK with classical clinical features of MDM. SLURP-1 gene NM_020427 sequencing revealed a c.82delT/; p.Cys28Alafs*4 homozygous mutation in exon 2 (Fig. 1). He was recently referred to our department with a diagnosis of metastatic melanoma of the left inguinal lymph nodes. Physical examination revealed an extensive PPK covered with yellowish, waxy, and thick hyperkeratosis with erythematous borders and progressing to involve the dorsal aspect of hands and feet (Fig. 2a,b) with flexion contractures of fingers and toes (Fig. 2c) associated with well-circumscribed psoriasis-like plaques on the knee (Fig. 2d) and elbows. On the patient’s left ankle, we noticed an infiltrative ulcerated nodule with irregular borders of 40-50 mm in size (Fig. 3). Histology and immunohistochemical study (HMB45, PS100, MelanA) confirmed the diagnosis of a BRAF V600E negative achromic melanoma. No metastatic location other than left inguinal lymph node metastases was noted. Due to the destruction of the muscular fascia, a transtibial amputation was recommended with left inguinal lymph node dissection.

[Cutaneous leukocytoclastic vasculitis: about 85 cases].

Clinical manifestation, etiology and outcome of leukocytoclastic vasculitis are little studied. The aim of our study was to examine epidemiological, clinical etiological, and evolutionary characteristics of this entity. We conducted a cross-sectional data collection from medical records of 85 patients with leukocytoclastic vasculitis in the Department of Dermatology at the Farhat Hached University Hospital, Sousse between January 2000 and December 2013. Epidemiological, clinical, paraclinical, etiological data sheets had been completed for each patient. The average age of patients was 47.65 years, ranging between 10 and 78 years. Fifty-three women and 32 men were registered (sex ratio = 0.6). Cutaneous manifestations were dominated by vascular purpura (88.2%). The most common causes of leukocytoclastic vasculitis were systemic diseases (51%), infection (20%) and neutrophilic dermatoses (14.5%). Other causes were drugs (9.1%) and hematologic malignancies (5.4%). The cause of leukocytoclastic vasculitis was not detected in 30 patients (35, 3%). Two predictive factors associated with the acute outcome were retained: the presence of a recent infection (p= 0.014) and drug intake before the rash (p= 0.013). Chronic evolution was positively correlated with antinuclear antibodies (p= 0.009) and cryoglobulinemia (p=0.025). Our study highlights the multitude of causes of leukocytoclastic vasculitis. The search for an underlying disease is an imperative in order to ensure better therapeutic management.

Forme particulière de Pemphigoide cicatricielle à dépôt unique d'IgA

Cicatricial Pemphigoid is a subepithelial bullous dermatosis which essentially involves the mucous membranes with cicatricial evolution We report the case of a 66-year old patient hospitalized with erosive gingivitis associated with dysphagia, dyspnea and blurred vision. Dermatologic examination showed erosive lesions involving the palate and the pharynx. Ophthalmologic examination showed symblepharons, ectropion and bilateral cataract. Gingival biopsy revealed a necrotic detachment of the buccal epithelium. Direct immunofluorescence showed linear IgA deposit at the dermo-epidermal junction. Indirect immunofluorescence test was negative. The diagnosis of cicatricial pemphigoid was confirmed. Esophagogastroduodenoscopy objectified double stenosis of the esophagus. Nasopharyngeal and bronchial endoscopy showed ulceration of the epiglottis, hypopharynx, pharynx and bronchial tree. The patient was treated with Solumedrol bolus corresponding to 0.5mg/kg/day prednisone associated with 100mg/day disulone. The patient showed a favorable early clinical outcome complicated because of the aggravation of dysphagia and esophageal stenosis after 2 months. Our case study is singular due to the occurrence of a cicatricial pemphigoid in a male patient with a serious clinical picture due to lesions extending to conjunctival, oral, nasal, esophageal and bronchial mucous membranes associated with direct immunofluorescence only showing IgA deposit.

A new case of imatinib-induced drug reaction with eosinophilia and systemic symptoms

References 1. Moreno C, Jacyk WK, Judd MJ, Requena L. Highly aggressive extraocular sebaceous carcinoma. Am J Dermatopathol 2001;23:450‐5. 2. Ikuse S, Jinbou A, Matsushima I. A case of sebaceous carcinoma. Jpn J Dermatol 1976;86:783. Figure 3b: Immunohistochemistry showing. Epithelial membrane antigen positivity in the tumor cells (IHC, ×20) 3. Kawamoto M, Fukuda Y, Kamoi S, Sugisaki Y, Yamanaka N. Sebaceous carcinoma of the vulva. Pathol Int 1995;45:767‐73. 4. Khan Z, Misra G, Fiander AN, Dallimore NS. Sebaceous carcinoma of the vulva. BJOG 2003;110:227‐8. 5. Jacobs DM, Sandles LG, Leboit PE. Sebaceous carcinoma arising from Bowen’s disease of the vulva. Arch Dermatol 1986;122:1191‐3. 6. Escalonilla P, Grilli R, Cañamero M, Soriano ML, Fariña MC, Manzarbeitia F, et al. Sebaceous carcinoma of the vulva. Am J Dermatopathol 1999;21:468‐72. 7. Pusiol T, Morichetti D, Zorzi MG. Sebaceous carcinoma of the vulva: Critical approach to grading and review of the literature. Pathologica 2011;103:64‐7. 8. Rulon DB, Helwig EB. Cutaneous sebaceous neoplasms. Cancer 1974;33:82‐102. 9. Carlson JW, McGlennen RC, Gomez R, Longbella C, Carter J, Carson LF. Sebaceous carcinoma of the vulva: A case report and review of the literature. Gynecol Oncol 1996;60:489‐91. 10. Kurts C, Panzer U, Anders HJ, Rees AJ. The immune system and kidney disease: Basic concepts and clinical implications. Nat Rev Immunol 2013;13:738‐53. 11. Chao AN, Shields CL, Krema H, Shields JA. Outcome of patients with periocular sebaceous gland carcinoma with and without conjunctival intraepithelial invasion. Ophthalmology 2001;108:1877‐83.