Anatomoclinical study of 30 cases of sclerosing sweat duct carcinomas (microcystic adnexal carcinoma, syringomatous carcinoma and squamoid eccrine ductal carcinoma)

Background Microcystic adnexal carcinoma (MAC), syringomatous carcinoma (SC) and "Squamoid eccrine ductal carcinoma" (SEDC) are rare sclerosing adnexal tumours. Objective To understand the histogenesis of these tumours and possible clinical implications. Methods We conducted a retrospective study of 30 cases, 18 MAC, 5 SC and 7 SEDC reviewed and classified by a panel of dermatopathology experts, with immunohistochemical analysis of keratins, including K77, a new keratin specific of eccrine ducts, and PHLDA1 expressed in adnexal structures. Results There was a strong female predominance, with only five cases occurring in men. Patients with MAC and SC were younger (mean age 56 and 47 years) than those with SEDC (mean age 81 years). The most common localization was the cheek in SC and SEDC and the periocular area in MAC. Two cases of SEDC were found in organ transplant patients. No recurrence or metastases were observed after complete surgery of MAC, or SC (mean follow-up 7.2 years and 4.7 years), whereas one case of SEDC recurred and another could not be fully excised. MAC and SC had similar histological features, except for cysts. In MAC, calcifications, granulomas, connection to follicles, keratin expression pattern, PHLDA1 positivity and K77 negativity indicated a follicular histogenesis, whereas in SC, K77 positivity and keratin expression pattern were consistent with a differentiation towards eccrine apparatus. SEDC was composed of strands centred by ducts and nests with squamous differentiation and displayed K77 ductal positivity in all cases, a finding consistent with an eccrine origin. Conclusion Our study demonstrated that MAC and SC have similar clinical characteristics, although histogenesis differs and show arguments for the individualization of SEDC.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Intérêt de la distinction de deux formes cliniques de Mycosis fongoïde folliculotrope : analyse dans deux centres de référence.

Introduction: Le mycosis fongoïde folliculotrope (MFF) est une variante fréquente de mycosis fongoïde qui réalise cliniquement des papules folliculaires, des lésions acnéiformes, une alopécie, et des plaques infiltrées, et qui touche préférentiellement la tête et le tronc. Le MFF était classiquement considéré comme plus agressif que le MF. Néanmoins, deux études récentes ont distingué une forme précoce d’évolution indolente et une forme avancée d’évolution plus agressive. Cette étude a pour but d’analyser si la distinction récemment décrite entre ces deux formes est reproductible en vie réelle, en étudiant tous les cas de MFF sans atteinte extra-cutanée recrutés pendant 2 ans dans 2 centres de référence. Matériel et Méthodes: Il s’agit d’une étude rétrospective franco-italienne bi-centrique ayant inclus 43 patients, 17 femmes et 26 hommes, âgés de 21 à 89 ans, dont le diagnostic de MFF a été posé entre janvier 2015 et décembre 2016. Les patients ont été divisés en 2 groupes : groupe A (stade précoce) caractérisé par des papules folliculaires (fig. 1), des kystes et un infiltrat péri-folliculaire; groupe B (stade avancé) caractérisé par des plaques infiltrées (fig. 2) et un infiltrat envahissant massivement le derme. Pour chaque groupe nous avons analysé les données clinico-pathologiques et la réponse aux traitements. Nous avons déterminé le Time to Next Treatment (TtNT), temps entre le début du 1er traitement et le début du 2ème, ou la dernière date du dernier suivi pour ceux qui n’ont pas eu de 2ème traitement. Résultats: 30 patients appartenaient au groupe A et 13 patients au groupe B. Les patients du groupe A étaient plus souvent au stade IA (76% des cas) alors que les patients du groupe B étaient plus souvent au stade IB (54% des cas). Dans les groupes A et B, les patients ont reçu principalement des traitements topiques : dermocorticoïdes (groupe A : 57% vs 30% pour le groupe B), PUVA (17% vs 0%), UVB (20% vs 38%), Chlormethine gel (3% vs 8%), radiothérapie (0% vs 8%). 1 patient (3%) du groupe A a reçu un traitement systemique par bexarotène vs 2 patients (6%) pour le groupe B. 58% des malades du groupe A a présenté une réponse aux dermocorticoïdes vs 25% pour le groupe B. Le TtNT a montré une différence de 4 mois entre le groupe A et B (8.4 vs 4.1 mois)

Clinical and histological features of histiocytoid Sweet syndrome associated with VEXAS syndrome

International audienceBACKGROUND: "Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic" (VEXAS) syndrome is caused by acquired somatic mutations in the ubiquitin-activating enzyme 1 (UBA1) gene. Sweet-syndrome-like skin disorders (and especially histiocytoid Sweet syndrome (HSS)) may be associated with VEXAS syndrome. OBJECTIVE: To characterize the clinical and histopathological features of HSS in patients with VEXAS syndrome. METHODS: The skin biopsies with a histological diagnosis of HSS had been collected at Rennes University Medical Center (Rennes, France) between October 2011 and January 2022. Sanger sequencing and digital PCR were used to screen skin, blood, and bone marrow samples for UBA1 variants, and thus classify patients as having VEXAS syndrome or not. We evaluated the clinical, histological, and molecular (UBA1) characteristics of patients with or without VEXAS syndrome. RESULTS: We compared 15 skin biopsies from seven patients found to have VEXAS syndrome and 19 skin biopsies from 15 patients without VEXAS syndrome. Persistent inflammatory syndrome, macrocytosis, anemia, and hematological malignancies were more prevalent in patients with VEXAS syndrome (86%, 86%, 100%, and 86%, respectively) than in patients without (36%, 40%, 53%, and 53%, respectively). These features sometimes appeared after the first skin manifestations, and a UBA1 mutation was found in the skin of five patients with VEXAS syndrome. Dermal infiltration by myeloperoxidase-positive, CD163-positive, reniform histiocytoid cells and a periadnexal distribution were more frequently observed in VEXAS syndrome biopsies (100% and 20% respectively, vs. 58% and 0% in non-VEXAS syndrome biopsies, respectively). CONCLUSION: Our findings might help the pathologist to consider a diagnosis of VEXAS syndrome and to initiate early genetic testing

Large‐cell transformation is an independent poor prognostic factor in Sézary syndrome: analysis of 117 cases

International audienc

The spectrum of neutrophilic dermatoses associated with monoclonal gammopathy: Association with IgA isotype and inflammatory profile

International audienc

Mutation en mosaïque de NLRP3 dans des urticaires neutrophiliques avec fièvre : une nouvelle entité.

National audienc

Syringotropic mycosis fungoides: Clinical and histologic features, response to treatment, and outcome in 19 patients

International audienceBACKGROUND: A rare variant of mycosis fungoides (MF), syringotropic MF (STMF) is characterized by a particular tropism of the lymphocytic infiltrate for the eccrine structures, and included in the follicular subtype of MF in the World Health Organization-European Organization for Research and Treatment of Cancer classification of cutaneous lymphomas. OBJECTIVE: We sought to determine the clinicopathologic features and disease course of patients with STMF. METHODS: A retrospective study was conducted to identify patients with STMF from 1998 to 2013. RESULTS: Nineteen patients were included: 15 men and 4 women, mean age 55 years (range, 24-86). Most had multiple lesions (n = 16, 84%) with associated alopecia (n = 12, 63%) and/or punctuated aspect (n = 12, 63%). Palms or soles were involved in 10 cases (53%). Folliculotropism was found in 13 cases (68%). After a median follow-up of 70 months (range, 2-140), 3 patients died, 1 from disease-related death. The 5-year overall and disease-specific survival were 100%. The disease-specific survival was significantly higher than in 54 patients with folliculotropic MF without syringotropism (5-year disease-specific survival, 74%; 95% confidence interval, 58%-94%, P = .02). LIMITATIONS: Retrospective setting is a limitation. CONCLUSIONS: In the spectrum of adnexotropic MF, STMF appears as a distinct entity from follicular MF, with peculiar clinical characteristics and natural history

Clinical Features, Histological Characteristics, and Disease Outcomes of Mycosis Fungoides in Children and Adolescents: A Nationwide Multicentre Cohort of 46 Patients

Background: Our objective was to describe the clinical, histological characteristics, and disease outcome of a cohort of mycosis fungoides (MF) diagnosed during childhood including disease status at adulthood. Methods: This is a retrospective multicentre survey of patients aged under 18 years at diagnosis with histologically confirmed MF. Patients’ clinical and histological characteristics, treatments, and disease outcome (for patients followed for more than 12 months) were analysed. Results: Forty-six patients were included (median age at diagnosis: 11 years; M:F sex ratio: 3:1) with 39 (85%) followed for at least 12 months. Thirty-nine patients (85%) had stage I MF. Hypopigmented patches were observed in 48% and folliculotropism in 43% patients. Immunophenotype of the skin infiltrate was predominantly CD8+ in 17% of patients. Initial management included a wait-and-see strategy in 6/39 (15%), skin-directed treatment in 27 (69%), and systemic treatment in 6 (15%) patients, respectively, with partial or complete clinical response (PR or CR) observed in 28 patients (72%). 14/39 patients (36%) relapsed after initial response. After a median follow-up period of 54 months, disease status at last news was PR or CR in 31/39 (79%), stable disease in 6 (15%), and progression in 2 (5%) patients. Histological transformation was observed in 3/39 (8%). Of the 15 patients followed until adulthood, 13 (87%) had persistent MF. Discussion: This survey confirms the high frequency of hypopigmented and folliculotropic lesions and of CD8+ immunophenotype compared to adult MF patients. The long-term course is usually indolent but transformation may occur sometimes long after disease onset and the disease may persist during adulthood