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Introduction: Aspergillosis is an opportunistic infection that can complicate any situation of immunosuppression. The primary manifestations are pulmonary, and more rarely, in cases of severe immunosuppression, the infection can become invasive with extra-pulmonary involvement., Observation: We report the case of a 76-year-old female patient, experiencing a relapse of granulomatosis with polyangiitis treated with corticosteroids, rituximab and cyclophosphamide, who presented with diffuse erythematous nodular skin lesions. A biopsy with histological analysis confirmed a diagnosis of invasive cutaneous aspergillosis. Treatment with voriconazole led to a favorable outcome., Conclusion: The appearance of skin lesions in an inflammatory context in a patient receiving immunosuppressive therapy should prompt a comprehensive microbiological assessment for opportunistic pathogens, as well as a skin biopsy to investigate for invasive cutaneous aspergillosis., (Copyright © 2024 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)

The occurrence of cutaneous squamous cell carcinoma is a frequent and potentially serious complication in people with recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa with chronic leg sores. Early diagnosis of early-stage carcinomas enables limited surgical excision and rapid healing without sequelae. Screening during skin care of patients at risk is therefore of major interest, and any atypical lesion should be shown to a doctor specializing in the disease and biopsied at the slightest doubt, preferably in an expert center for the disease., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

La kératose séborrhéique (KS), anciennement appelée verrue séborrhéique ou verrue séborrhéique papillaire hyperkératosique , est une tumeur cutanée bénigne, qui survient essentiellement chez le sujet âgé au-delà de 50 ans. Elle est fréquente sur le tronc, le visage et rare dans la région génitale .Elles forment des lésions en relief, bien limitées, comme posées sur la peau, d'aspect squamo-kératosique, de coloration brun-gris à noire. Elles se détachent facilement à l'aide d'une curette. Elles sont souvent multiples et leur taille peut atteindre plusieurs centimètres. Dans cette localisation le principal diagnostic différentiel c'est les verrues génitales à human papilloma virus. Leur étiopathogénie est inconnue. Elles pourraient survenir après une dermatose inflammatoire ou sur un site de frottement répété. Nous rapportons le cas d'un patient âgé de 40 ans, sans antécédents pathologiques particuliers, consultait pour des lésions pubiennes pigmentées évoluant depuis 5 ans. L'examen clinique retrouvait de nombreuses lésions noirâtres à surface kératosique cérébriformes évoquant des kératoses séborrhéiques siégeant au niveau des organes génitaux externes et au niveau du pubis. Les diagnostics évoqués étaient des KS géantes et des condylomes. Une biopsie cutanée d'une lésion papuleuse noirâtre montrait une acanthose épidermique associée à une orthokératose s'invaginant par endroit dans le corps muqueux en réalisant des puits caractéristiques. Un traitement par électrocoagulation-curetage a été réalisé.

The indications for nerve biopsy have diminished in recent years. This examination nevertheless remains essential in certain cases of peripheral neuropathies, making it possible to specify the diagnosis or the mechanism of injury for a therapeutic purpose. It is a simple but "invasive" procedure, which can only be performed once on the same nerve. The indications are thus discussed on a case-by-case basis and based on a range of clinical, electrophysiological, biological or even genetic arguments. This involves close collaboration between clinical physicians and pathologists. The main difficulty of this biopsy concerns the fragility of the sample and the techniques necessary for its interpretation, requiring it to be carried out in expert centers. Nerve biopsy is closely related to skin biopsy in the search for small fiber neuropathy. It is a particular technique, but very well codified. The purpose of this review is to recall the indications and contraindications of nerve biopsy, and to explain what the contributions are but also the limits of this examination as well as of skin biopsy., (Copyright © 2022. Published by Elsevier Masson SAS.)

La maladie de Lafora (ML) represente une forme rare et grave d�epilepsie myoclonique progressive. C�est une affection a transmission autosomique recessive, heterogene sur le plan genetique. Nous rapportons le cas d�une adolescente de 16 ans, issue de parents consanguins de premier degre, qui presente depuis l�age de 14 ans des crises d�epilepsie et des myoclonies. L'examen neurologique a montre un syndrome cerebelleux et une deterioration intellectuelle. La biopsie cutanee etait indispensable pour orienter le diagnostic. La ML a un pronostic constamment fatal. L�etude histologique confirme le diagnostic et l�etude moleculaire peut aider a etablir un conseil genetique.

La maladie de Lafora (ML) représente une forme rare et grave d'épilepsie myoclonique progressive. C'est une affection à transmission autosomique récessive, hétérogène sur le plan génétique. Nous rapportons le cas d'une adolescente de 16 ans, issue de parents consanguins de premier degré, qui présente depuis l'âge de 14 ans des crises d'épilepsie et des myoclonies. L'examen neurologique a montré un syndrome cérébelleux et une détérioration intellectuelle. La biopsie cutanée était indispensable pour orienter le diagnostic. La ML a un pronostic constamment fatal. L'étude histologique confirme le diagnostic et l'étude moléculaire peut aider à établir un conseil génétique. [ABSTRACT FROM AUTHOR]

Abstract: Purpose: About forty percent of the patients with primary Sjögren''s syndrome (pSS) experience chronic neuropathic pain with normal electrodiagnostic studies. Two previous studies suggest that chronic neuropathic pain in pSS is due to small fiber neuropathy (SFN). Quantification of epidermal nerve fiber density after skin biopsy has been validated to diagnose small fiber neuropathy. Methods: Skin biopsy was performed in 14 consecutive pSS patients (satisfying the american-european classification criteria) with chronic neuropathic pain and normal electrodiagnostic studies suggesting SFN. Résults: Fourteen female pSS patients exhibited chronic neuropathic pain [burning sensation (n =14), prickling (n =4), dysesthesia (n =8)] with paroxystic exacerbations (n =10) and allodynia (n =13), for a mean period of 18.4±12.4 months. Neuropathic pain involved mostly hands and feet (n =13), with a distal (n =9) and leg (n =4) predominant distribution. Neurological examination disclosed normal deep tendon responses and absence of motor weakness (n =14). Small fiber neuropathy was confirmed by skin biopsy in 13 cases. Epidermal nerve fiber density was decreased in distal [(n =12), mean 3.5±1.7 fibers/mm (N >6.9)] and proximal site of biopsy [(n =9), mean 7.04±2.63 fibers/mm (N >9.3)]. Conclusion: Small fiber neuropathy is commonly responsible of chronic neuropathic pain in pSS. Prevalence, physiopathology and neurological evolution of such neuropathies still remain unknown. [Copyright &y& Elsevier]

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Pemphigoid gestationis is a gestational skin disease usually appearing between the 28th and the 32nd week of amenorrhea. It is a rare vesiculobullous skin disease and the eruption is located around the umbilicus. The diagnosis is made with clinical symptoms but mainly on histologic examination (after skin biopsy) and direct immunofluorescence. One of the main complications is the rate of recurrence. The main treatment is based on topical corticosteroids. The effects of the pemphigoid gestationis are maternal (preterm labor), fetal (intrauterine growth retardation) and neonatal (bullous disease). We report a case of pemphigoid gestationis associated to a gestational hypertensive disorder and we try to rely on both entities. [Copyright &y& Elsevier]

La biopsie cutanée (BC) évalue la perte en fibres nerveuses intradermiques et est considérée comme le gold standard pour le diagnostic de neuropathie des petites fibres (NPF). Cependant, la perte en fibres est objectivable lors d’un processus dégénératif déjà avancé et la relation entre douleur neuropathique et résultat de la BC reste peu claire. Les potentiels évoqués laser (PEL) permettent une évaluation fonctionnelle de la voie de la sensibilité thermo-algique et contribuent au diagnostic du caractère neuropathique d’une douleur. L’objectif de cette étude rétrospective est d’évaluer l’apport respectif de la BC et des PEL chez 29 patients présentant une suspicion clinique de NPF avec un électroneuromyogramme normal. Les PEL ont été retenus comme pathologiques en cas de diminution d’amplitude, désynchronisation, augmentation de latence ou abolition des réponses corticales. Le taux de concordance des résultats entre PEL et BC est de 69 %. Sur les 9 résultats discordants, tous sauf un présentent bien une NPF cliniquement définie ( n = 3) ou possible ( n = 5), établie devant la présence de douleurs neuropathiques d’après le score DN4, de topographie distale et/ou associées à une hypoesthésie thermo-algique : – 4 patients ayant une BC normale ont des PEL pathologiques parmi lesquels 2 sont porteurs d’un syndrome de Gougerot-Sjögren ; – 5 patients avaient une BC pathologique et des PEL normaux, avec cependant une élévation des seuils nociceptifs pour deux d’entre eux. En conclusion, la biopsie cutanée et les potentiels évoqués laser sont des outils diagnostiques complémentaires devant un tableau clinique de douleur neuropathique évocateur du diagnostic de neuropathie des petites fibres. Les PEL doivent notamment être réalisés en cas de suspicion clinique forte de NPF, y compris si la BC est négative. Les seuils nociceptifs sont également à prendre en compte. [ABSTRACT FROM AUTHOR]

Background: Intravascular large B-cell lymphoma (ivLBCL) is a rare blood dyscrasia that is difficult to diagnose. Healthy skin biopsies may prove useful in diagnosis of the condition. Herein we report a case of ivLBCL diagnosed using this type of examination, and we provide a literature review to determine the sensitivity of such testing., Patients and Methods: A 67-year-old woman was hospitalised for unexplained prolonged fever (UPF) and impaired general well-being. Laboratory tests revealed inflammatory syndrome, elevated LDH>2000IU/L, hepatic cytolysis and decreased prothrombin time at 47 %. Analysis for infection and medical imaging ruled out both an infectious or inflammatory origin and solid tumour. A healthy skin biopsy enabled confirmation of the diagnosis of ivLBCL., Discussion: This clinical case illustrates the value of healthy skin biopsy in establishing a diagnosis of ivLBCL in patients hospitalised for UPF. Following a systematic literature review in PubMed/Medline, we included eight studies involving at least three patients designed to assess the value of healthy skin biopsy in the diagnosis of ivLBCL. The diagnostic sensitivity of this approach ranged from 67% to 100%, with a sensitivity of 100% being seen in four of the eight studies. Details of the biopsy sites were available in three studies and diagnostic sensitivity was similar overall between samples taken from the thigh, abdomen and arms., Conclusion: Healthy skin biopsy sampling from at least two sites constitutes a sensitive and relatively non-invasive procedure for early diagnosis of ivLBCL., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Background: Intravascular lymphoma is a rare form of non-Hodgkin's lymphoma with varied but highly evocative clinical presentations, particularly in terms of dermatology. Histological examination of the skin may be sufficient to allow diagnosis., Patients and Methods: Herein, we report the case of a 75-year-old woman with a history of infiltrative ductal carcinoma of the left breast who was hospitalised for neurological evaluation following repeated falls. During the course of her hospital stay, the patient's neurological state deteriorated rapidly, and onset of marked laboratory-documented inflammatory syndrome was observed, together with disseminated intravascular coagulation (DIC). At the same time, she developed orange-peel type skin lesions on her left breast followed by a rapidly-spreading livedoid infiltrated plaque on her side. The skin biopsy enabled a diagnosis to be made of intravascular lymphoma based on immunohistochemical demonstration of intravascular tumoral proliferation of lymphoid cells expressing CD45 marker and B-cell marker CD20, as well as Bcl2, MUM 1 and CD5., Discussion: Intravascular B-cell lymphoma is a rare subtype of diffuse large B-cell lymphoma. It carries a poor prognosis and the clinical appearance varies extremely widely. The signs are primarily neurological and dermatological. Because of the varied nature of presentations as well as the rarity of the disease, diagnosis may be delayed, with worsening of the prognosis of the disease, which nevertheless requires rapid and aggressive management. However, the appearance of infiltrated and livedoid lesions on the trunk or limbs is evocative and skin biopsy constitutes a readily accessible diagnostic tool that offers rapid confirmation., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Adult T-cell leukemia/lymphoma (ATLL) is a rare medical condition and a diagnosis that ought to be considered for patients living in an area endemic for the HTLV-1 virus (human T-lymphotrophic virus) where a T-cell lymphoproliferative diagnosis has been made. The cutaneous clinical forms may be the first manifestation of the disease. We report here an observation in a 60-year-old Senegalese woman whose skin lesions were sampled to reveal the ATLL immunophenotypic profile CD4+, CD25+, FoxP3-, and CD7-. HTLV-1 seropositivity confirmed the histopathological diagnosis, and should be corroborated by demonstration of a molecular clonal rearrangement by PCR (Polymerase Chain Reaction). This is a problem because such techniques are not always available in Africa., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)

Objective: A vascular cause is found in around 85% of leg ulcer patients, but non-vascular causes are also observed. Their diagnosis is based on a set of clinical arguments and skin biopsy with histological analysis. The aim of this study was to analyze the results of these biopsies and to find common criteria for ulcers whose skin biopsies had led to the diagnosis of a non-vascular ulcer., Material and Method: A retrospective study was carried out on the analysis of 143 skin biopsies of leg ulcers. The reasons for the biopsy were mainly atypical clinical signs and/or the lack of improvement in care after 6 months, as advocated by the French health authorities., Results: The skin biopsies led to a diagnosis of non-vascular ulcer in 4.9% of cases (7/143), including skin cancer (n=5, 3.5%), cutaneous leishmaniasis (n=1, 0.7%) and Pyoderma gangrenosum (n=1, 0.7%). The univariate statistical analysis revealed that an elevated rim and abnormal excessive granulation tissue were significantly more frequently found in these ulcers. All patients with a positive skin biopsy had associated vascular involvement., Conclusion: This study found a 5% rate of non-vascular causes of ulcers, mainly skin cancer. Elevated rims and abnormal excessive granulation tissue were the unusual features most commonly found in these ulcers. All patients whose skin biopsy revealed a non-vascular cause had associated vascular involvement. This information confirms the need to perform a skin biopsy, even in the presence of a vascular disease., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

Syphilis is a resurging sexually transmitted infection linked to Treponema Pallidum. Syphilitic lymphadenitis can be present during the 3 stages of the disease. Its histological diagnosis remains challenging for the pathologist given its possible misleading aspect and its ability to mimic as well as reactional as tumoral conditions. We report the case of an HIV-infected young patient referred for suspicion of an aggressive lymphoma. Histological and immunohistochemical analysis of cervical lymphadenopathy revealed secondary syphilis., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

Le diagnostic de neuropathie des petites fibres (NPF) peut comporter une exploration de la densité des fibres nerveuses intra-épidermiques (DFNIE) au niveau de la cheville. L’utilité diagnostique de cet examen souffre du manque de normes afin de comparer les données obtenues avec des abaques chez des sujets sains. Notre étude (PHRCIR4961) a permis de déterminer les normes quantitatives et qualitatives des FNIE dans une population de 300 sujets sains stratifiés selon l’âge et le sexe. Les sujets ont été recrutés dans les centres de Strasbourg, Nancy et Besançon. Une analyse clinique et biologique a permis d’exclure les sujets ayant une pathologie neurologique. Les sujets ont bénéficié d’une biopsie de peau 10 cm au-dessus de la malléole externe. Un marquage anti-PGP 9,5 a été réalisé sur coupes flottantes et la DFNIE a été exprimée en fibres/mm. L’aspect morphologique des fibres intra-épidermiques a été apprécié qualitativement (présence de dilatations, ramifications, irrégularité de distribution). L’âge et le sexe étaient deux variables indépendantes influençant la mesure de la DFNIE. La médiane de la DFNIE était de 9,29 f/mm et décroissait significativement avec l’âge. Les modèles ajustés ont permis de calculer le 5 e percentile sur la base de la formule suivante : 7,6156–0,0769 × âge + 1,5506 × femme. Deux critères qualitatifs (petites dilatations et irrégularité de distribution) sont présents chez les sujets sains et augmentent avec l’âge. Ces données viennent préciser et compléter les bases existantes sur les FNIE. Les vérifications biologiques réalisées au préalable ont permis d’obtenir des données homogènes surtout entre 30 et 50 ans. Deux critères morphologiques pourraient constituer des marqueurs de pathologie : les ramifications et les volumineuses dilatations des FNIE. Ces nouvelles normes permettent de mieux appréhender le rôle de la biopsie de peau dans le diagnostic des NPF. [ABSTRACT FROM AUTHOR]

Objective: For many physicians, palpable purpura is synonymous with vasculitis. However, a skin biopsy is almost always performed in common clinical practice in order to confirm the diagnosis. The aim of our study was to assess whether palpable purpura is always indicative of an inflammatory infiltrate in a vessel wall., Patients and Methods: Eighty-seven patients were included in this prospective monocentric study, 45 of whom were presenting a palpable purpura. Patients were classified in two categories: "leukocytoclastic vasculitis" or "other diagnosis". The clinical and histopathological features of patients with a palpable purpura were studied., Results: The mean age of patients presenting a palpable purpura was 69 years. There were 26 men and 19 women. Of the 43 patients biopsied, 37 were included in the vasculitis group. The sensitivity, specificity, positive predictive value and negative predictive value for a diagnosis of vasculitis in patients with palpable purpura were respectively 82, 65, 86 and 58 %. The Odds ratio was 8.48 (95 % CI, 2.52-31.80; P<0.05)., Conclusion: Most of the palpable purpuras examined were indeed related to leukocytoclastic vasculitis. In the remaining cases, biopsy did not contribute to the diagnosis since it only showed purpura without vessel wall inflammation. In our opinion, a skin biopsy is thus not essential where the clinical presentation is typical., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)