Bullous Skin Lesions Research Articles

Successful Treatment of Epidermolysis Bullosa Pruriginosa with Anti-IgE Therapy (Omalizumab): A Case Report and Four Years Follow Up

Importance: Epidermolysis bullosa pruriginosa (EBP) is a rare adult-onset heredo-familial skin disorder. Bullous skin lesions are triggered by intense pruritus, which is the hallmark of the disease. Eosinophilic infiltrates and elevated IgE levels in serum and lesions have been reported, but their pathological role is yet to be determined. Although treatment with anti-IgE therapy (Omalizumab) has been used successfully in autoimmune bullous diseases but not in EBP to our knowledge. Observation: We report a case of a 34-year-old female with adult-onset pruritic and blistering disease of the skin. Sub epidermal blisters with viable roofs and numerous epidermal neutrophils and eosinophilic infiltrate were detected histopathologically; however, the absence of IgA, IgG, IgM, C1q, and C3 deposits made the diagnosis of Epidermolysis bullosa acquisita and Bullous pemphigoid uncertain. Whilst testing for intra-lesional IgE autoantibodies was not performed, total and specific serum IgE concentrations increased during her illness in the absence of an allergic or parasitic disease. Because no improvement in her symptoms was observed with conventional treatments, whole exome sequencing was performed which showed a non-conservative Glycine substitution in the G2481D residue in the COL7A1 gene suggestive of EBP. Off-label use of anti-IgE drug (Omalizumab) was attempted due to severity of her symptoms and elevated levels of IgE. On initiating the treatment, the patient showed a significant improvement in her skin condition; however, a trial to taper off Omalizumab two years later was unsuccessful. Conclusion: This case suggests a possible role of IgE autoantibodies in EBP that requires further research, consolidated by the fact that our patient showed improvement with anti-IgE therapy. Furthermore anti-IgE therapy offers a possible new targeted treatment for EBP in the absence of curative treatments.

A Case Report of Idiopathic Catastrophic Thrombotic Syndrome with Purpura Fulminans

Background: Catastrophic thrombotic syndrome (CTS) is a rare life-threatening condition defined as rapid onset of multi-organ thrombosis affecting diverse vascular beds. Predisposing conditions include catastrophic antiphospholipid syndrome (APS), atypical thrombotic thrombocytopenic purpura (TTP), delayed heparin-induced thrombocytopenia and Trousseau syndrome. Patients who do not meet any of these criteria are diagnosed with idiopathic catastrophic thrombotic syndrome. Case description: A 44-year-old Caucasian woman with type II diabetes and hypothyroidism presented with acute onset of myalgia and extensive bruising over a period of four days. Physical exam revealed hypotension, tachycardia, and extensive purpuric and bullous skin lesions. Laboratory evaluation demonstrated microangiopathic hemolysis, thrombocytopenia, elevated D-dimer and coagulopathy suggesting disseminated intravascular coagulation (DIC) along with acute kidney injury (AKI) and transaminitis. Aggressive transfusions including packed red blood cells, fresh frozen plasma, platelets and cryoprecipitate were required to reverse her severe coagulopathy. Ultrasound showed occlusive thrombus in the left basilic vein and the greater saphenous veins bilaterally and heparin infusion was started. IV methylprednisolone, all-trans retinoic acid and doxycycline were empirically given. Workup was negative for any coagulation factor deficiency or hypercoagulable state although heterozygous factor V Leiden (FVL) mutation was found. Bone marrow biopsy was normal. Infectious and auto-immune workups were unremarkable. Skin biopsy showed diffuse intravascular thrombi but no evidence of vasculitis. Two weeks later, she developed Enterobacter bacteremia from infection of her bullous lesions. She was started on broad spectrum antibiotics and transferred to a burn unit. Eventually, her coagulopathy, bacteremia, AKI and transaminitis resolved, she was discharged with indefinite anticoagulation. Discussion: CTS presented in our patient with rapidly progressive thrombosis with consumptive coagulopathy. No obvious instigating source was found, her clinical presentation was out of proportion for the isolated heterozygous FVL mutation. Anticoagulation remained the main therapy in the acute setting and aggressive supportive care in multi-disciplinary setting to manage acute and late complications was required. Conclusion: Through this report, we emphasize the need for early recognition of CTS with this constellation of clinical findings and advocate for urgent interventions to prevent untoward outcomes.

Bullous lichen planus-like reactions in a patient with renal cancer after receiving anti-programmed cell death-1 therapy

Anti-programmed cell death 1 (anti-PD-1) agent is a promise in cancer immunotherapy for various advanced malignancies, but dermatologic toxicities are common during therapy. We report one advanced transitional cell carcinoma patient who developed multiple bullous skin lesions over bilateral lower extremities after anti-PD-1 antibody pembrolizumab treatment. Skin biopsy revealed subepidermal cleft, wedge-shaped hypergranulosis, saw-tooth acanthosis, and presence of interface band-like lymphohistiocytic infiltrate compatible with bullous lichen planus-like reactions. Potent topical steroid and temporary cessation of pembrolizumab relieved the skin eruptions. Early recognition and appropriate management of rare bullous dermatologic toxicities are critical in patients receiving immune checkpoint blockade therapy.

Expression of MMP-2 and MMP-13 in Bullous Pemphigoid

Objective: To investigate the expression and significance of matrix metalloproteinase-2 (MMP-2) and matrix metalloproteinase-13 (MMP-13) in bullous pemphigoid (BP) skin lesions. Methods: Immunohistochemical SP method was used to detect the expression of MMP-2 and MMP-13 in 32 BP skin lesions, and compared with 15 normal skin tissues. Results: The expression of MMP-2 in the case group was significantly increased (38.56 ± 10.06) compared to the normal control group (21.20 ± 5.98); the expression of MMP-13 in the case group was significantly augmented (18.62 ± 5.90) compared to the normal control group (11.47 ± 8.484). The expressions of MMP-2 and MMP-13 in the skin lesions of patients with bullous pemphigoid were statistically different from those of normal people (both P < 0.05). Compared with the expression of MMP-2 and MMP-13 in bullous pemphigoid, the expression of MMP-2 and MMP-13 was moderately correlated (correlation coefficient was 0.523). Conclusion: The expression of MMP-2 and MMP-13 is significantly increased in bullous pemphigoid skin lesions, suggesting that they may play an important role in the pathogenesis of BP. There is a certain correlation between the expression of MMP-2 and MMP-13, suggesting that the high expression of MMP-13 may play a role in the mechanism that further leads to the high expression of MMP-2.

Congenital muscular dystrophies and congenital myopathies: A study of mutational pattern and phenotypic variability from a tertiary care hospital in India

To characterize the genetic subtypes of Congenital muscular dystrophies (CMD) and Congenital myopathies (CM). A retrospective analysis of CMD and CM (2015–2019) confirmed by exome sequencing. Institutional Ethics Committee approval obtained for the study. CMD group: 15 patients; M:F = 2:3. Onset was congenital in Ullrich CMD(UCMD), FKRP and LAMA2, adult in Bethlem myopathy(BM) and variable in LMNA. Common findings: Contractures, limb girdle and facial weakness, elevated serum creatine kinase. Calf hypertrophy in LAMA2 and FKRP. UCMD (P1,2): Recessive nonsense(p.Gln104ter, p.Gln27ter) mutations in Col6A2 and Col6A3. BM (P3-7): P3-5 had dominant missense mutations in Col6A2(p.Gly564Arg), Col6A1(p.Gly269Ar) and Col12A1(p.Gly982Arg). Co6A3 nonsense(p.Arg59ter) and c.6309+3A>G(5'splice) mutations in P6,7. LAMA2 (P8,9): Compound heterozygous mutations(p.Lys1726ter|p.Arg2604ter; p.Arg2319ter|del 34-37ex): leukoencephalopathy and cerebellar cysts on imaging. LMNA (P10-14): Onset: infancy to 3rd decade. P10-13 had heterozygous missense mutations(p.Arg453Trp, p.Leu102Pro, p.Asn39His and p.Val440Met). Variable phenotypes: P10,11: EDMD, P12: LGMD, P13: RSS with DCM. P14 with biallelic (p.Glu124Argfs*3|p.Glu124Gln) mutations: EDMD with adult progeria features. FKRP (P15): Recessive(p.Pro448Leu) mutation: limb-girdle phenotype. CM group: 12 patients; M:F = 2:1. Infantile onset with motor delay in RYR1, DES and SEPN1. Ptosis was common in all except RYR1. RYR1 (P1-4): P1&2 had opthalmoparesis: compound heterozygous(p.Leu2963Pro| p.Ser783Leu; p.Glu4464Asp|p.Arg628His) mutations. P1 biopsy showed centronuclear myopathy(CNM). P3 had heterozygous(p.Gly3288Arg) mutation. P4 with CM and bullous skin lesions: concomitant RYR1 frameshift(p.Leu108SerfsTer10) and COL7A1 5’splice(c.8620+3G>A) mutations. DES (P5,6): Recessive truncating(p.Arg150Ter, p.Glu320ArgfsTer2) mutations. Variable phenotypes: P5: CM with dilated cardiomyopathy(DCM), P6: Congenital myasthenic syndrome(CMS). SEPN1 (P7,8): Rigid spine syndrome(RSS) with homozygous(p.Met525Arg, p.Ala195Thr) mutations. DNM2 (P9,10): Onset:11-12 years with limb-girdle weakness. Dominant(p.Glu368Lys, p.Val798Met) mutations. This study highlights the mutational pattern and challenging conundrums of genotype-phenotype correlations in CMD and CM.

Bullous skin lesions as a diagnostic clue of systemic lupus erythematosus

Bullous skin lesions as a diagnostic clue of systemic lupus erythematosus

The Diagnostic Value of Tzanck Test in Vesiculobullous, Pustular, and Oral Lesions in The Dermatology Clinic

Background: Vesiculobullous disorders represent a heterogeneous group of dermatoses with protean manifestations. The accurate diagnosis of bullous disorders of the skin and mucous membrane requires evaluation of clinical, histological, and immunofluorescence findings. Objective: The aim of this study was to investigate Tzanck smear findings and to determine the diagnostic value of this test in moist (erosive, vesicular, bullous, and pustular) skin and oral lesions. Patients and Methods: This cross sectional study was conducted on one hundred patients presented with vesicular, bullous, and pustular skin lesions and/or oral lesions. All patients were included from Dermatology Outpatient Clinic at Al-Zahraa University Hospital over the period from March 2018 to March 2019. Results: Positivity of multinucleated giant cells in herpetic infection, acantholytic cells in pemphigus, dyskeratotic acantholytic cells and cocci in bullous impetigo were useful landmarks in Tzanck smear. A decrease in viral shedding from herpetic lesions of longer duration may correlate with the lower sensitivity of the Tzanck smear. Therefore, in this study we excluded the lesions older than 3 days. The percentage of positivity in vesicles was much higher than that of pustules. Conclusion: According to this study, Tzanck smear was an inexpensive, simple, and rapid test and did not require any specialized laboratory equipment for evaluation of various vesiculobullous and pustular lesions either skin or mucosal one.

Clinicopathological study of vesiculo bullous lesions of skin in a tertiary care hospital

Tzanck smear cytology though it is an old and simple test, it will provide much diagnostic value in the case of vesiculo bullous lesions. It was first used by Arnault Tzanck in 1947 in herpetic infections. To determine diagnostic accuracy of Tzanck smear cytology the results were compared with histopathological findings of vesiculobullous lesions.

Update on immunogenetics of Tunisian endemic pemphigus foliaceus.

Pemphigus foliaceus (PF) is an autoimmune blistering skin disease characterized by the presence of bullous skin lesions, the absence of mucous tissue involvement, and the production of auto-antibodies directed against a keratinocyte transmembrane protein localized in the desmosome and member of the cadherines, desmoglein 1. These pathogenic auto-antibodies are responsible for the intra-epidermal formation of blisters through the loss of keratinocyte adhesion, the so-called acantholysis process. The endemic form of PF observed in the south of Tunisia is characterized by a significantly higher incidence rate compared to the sporadic form in northern countries, occurrence mainly in young women and the absence of cases during childhood. Tunisian endemic PF is an ideal research model for the decryption of the puzzle of genetic and environmental factors and their interactions in the development of autoimmune diseases. In this review, we will summarize recent findings regarding the epidemiologic and immunologic features of Tunisian PF and its genetic and environmental factors.

Pemphigus vulgaris as the first manifestation of multiple myeloma: a case report

BackgroundThe association between pemphigus and malignancy has been well documented for decades but an association between pemphigus vulgaris and multiple myeloma is unusual. We report a case of pemphigus vulgaris revealing multiple myeloma.Case presentationA 55-year-old Malagasy man, with no significant past medical history, presented with bullous and erosive skin lesions involving his trunk and scalp for the last 2 months. He had no mucous membrane involvement. A diagnosis of pemphigus vulgaris was made on skin biopsy and direct immunofluorescence of perilesional skin revealing immunoglobulin G deposition in the intercellular spaces in the epidermis. In an enzyme-linked immunosorbent assay, his serum autoantibody index against desmoglein-1 and 3 was found to be 112 RU/mL and 34 RU/mL respectively. Serum immunoelectrophoresis showed a monoclonal gammopathy with a markedly elevated immunoglobulin G level (2880 mg/dL) in association with a lambda free light chain. Bone marrow aspirate showed 6% plasma cell infiltration. Further investigations, including creatinine blood test and whole body radiographic examinations, showed that he had initially clinical stage I multiple myeloma of the immunoglobulin G-λ type. Six months later, bone tomography revealed vertebral compression fractures of the thoracic and lumbar spine that correlated with his back pain topographically. Anti-myeloma treatment including melphalan and prednisone led to an immediate decline in monoclonal immunoglobulin G concentration. Skin and hematologic remission were maintained for 12 months.ConclusionsAbsence of mucosal involvement, lack of vacuolar degeneration at the interface, and absence of apoptotic, dyskeratotic keratinocytes ruled out paraneoplastic pemphigus in our case. Pemphigus vulgaris should be considered even if possible underlying disease for which paraneoplastic pemphigus is recognized is present.

Clinical and Immunological Study of 30 Cases With Both IgG and IgA Anti-Keratinocyte Cell Surface Autoantibodies Toward the Definition of Intercellular IgG/IgA Dermatosis.

Several sporadic cases, in which direct and indirect immunofluorescence studies simultaneously detected IgG and IgA autoantibodies to keratinocyte cell surfaces, have been reported mainly under the name of IgG/IgA pemphigus. However, there have been no systematic studies for this condition. In this study, we collected 30 cases of this condition from our cohort of more than 5,000 autoimmune bullous disease cases, which were consulted for our diagnostic methods from other institutes, and summarized their clinical and immunological findings. Clinically, there was no male–female prevalence, mean age of disease onset was 55.6 years, and mean duration before this condition was suspected was 18 months. The patients showed clinically bullous and pustular skin lesions preferentially on the trunk and extremities, and histopathologically intraepidermal pustules and blisters with infiltration of neutrophils and eosinophils. Immunologically, ELISAs frequently detected IgG and IgA autoantibodies to both desmogleins and desmocollins. From the characteristic clinical, histopathological, and immunological features, which are considerably different from those in classical IgG types of pemphigus, we propose this disease as a new disease entity with preferential name of intercellular IgG/IgA dermatosis (IGAD). This was the largest study of IGAD to date.

Reakcja pęcherzowa skóry jako przykład niepożądanego działania preparatu zawierającego 0,1% dichlorowodorku oktenidyny i 2% fenoksyetanolu (Octenisept®)

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Hołdrowicz A, Narbutt J, Pałczyński C, Kupryś-Lipińska I, Lesiak A. Bullous skin lesion reaction as an example of an adverse effect of a preparation containing 0.1% octenidine dihydrochloride and 2% phenoxyethanol (Octenisept®). Dermatology Review/Przegląd Dermatologiczny. 2018;105(6):753-760. doi:10.5114/dr.2018.80845. APA Hołdrowicz, A., Narbutt, J., Pałczyński, C., Kupryś-Lipińska, I., & Lesiak, A. (2018). Bullous skin lesion reaction as an example of an adverse effect of a preparation containing 0.1% octenidine dihydrochloride and 2% phenoxyethanol (Octenisept®). Dermatology Review/Przegląd Dermatologiczny, 105(6), 753-760. https://doi.org/10.5114/dr.2018.80845 Chicago Hołdrowicz, Agnieszka, Joanna Narbutt, Cezary Pałczyński, Izabela Kupryś-Lipińska, and Aleksandra Lesiak. 2018. "Bullous skin lesion reaction as an example of an adverse effect of a preparation containing 0.1% octenidine dihydrochloride and 2% phenoxyethanol (Octenisept®)". Dermatology Review/Przegląd Dermatologiczny 105 (6): 753-760. doi:10.5114/dr.2018.80845. Harvard Hołdrowicz, A., Narbutt, J., Pałczyński, C., Kupryś-Lipińska, I., and Lesiak, A. (2018). Bullous skin lesion reaction as an example of an adverse effect of a preparation containing 0.1% octenidine dihydrochloride and 2% phenoxyethanol (Octenisept®). Dermatology Review/Przegląd Dermatologiczny, 105(6), pp.753-760. https://doi.org/10.5114/dr.2018.80845 MLA Hołdrowicz, Agnieszka et al. "Bullous skin lesion reaction as an example of an adverse effect of a preparation containing 0.1% octenidine dihydrochloride and 2% phenoxyethanol (Octenisept®)." Dermatology Review/Przegląd Dermatologiczny, vol. 105, no. 6, 2018, pp. 753-760. doi:10.5114/dr.2018.80845. Vancouver Hołdrowicz A, Narbutt J, Pałczyński C, Kupryś-Lipińska I, Lesiak A. Bullous skin lesion reaction as an example of an adverse effect of a preparation containing 0.1% octenidine dihydrochloride and 2% phenoxyethanol (Octenisept®). Dermatology Review/Przegląd Dermatologiczny. 2018;105(6):753-760. doi:10.5114/dr.2018.80845.

Toxic Epidermal Necrolysis vs Lupus Flare?

SESSION TITLE: Critical Care 2 SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 31, 2017 at 01:30 PM - 02:30 PM INTRODUCTION: Toxic epidermal necrolysis (TEN) and Stevens Johnson syndrome (SJS) are severe mucocutaneous reactions characterized by extensive necrosis and detachment of epidermis. Systemic lupus erythematosus (SLE) patients are at increased risk of SJS/TEN. Here we discuss a patient with SLE who developed TEN. CASE PRESENTATION: A 45 year old female with discoid and systemic lupus erythematosus presented to dermatology with bullous skin lesions 2 days after starting gabapentin, naproxen, and duloxetine. Despite stopping her new medications, she developed a facial rash which spread to her trunk and extremities, affecting 30% body surface area. She had denuded oral mucosa and conjunctival hyperemia with no photosensitivity or eosinophilia. Complements were normal. Wedge biopsy showed acute on chronic vacuolar interface dermatitis with epidermal ulceration and partial to full-thickness epidermal necrosis, suggestive of chronic discoid lupus with superimposed bullous eruption. The patient was admitted to the ICU and treated with intravenous immunoglobulin for three days. Home medications were held. Supportive care included intravenous hydration, reverse isolation in heated environment, specialized wound care, oral and eye care. Methicillin resistant staphylococcus aureus bacteremia was treated. The patient clinically improved and was in reepithelialization phase at time of discharge. DISCUSSION: The incidence of TEN is 0.4-1.2% per million. In patients with SJS/TEN, the prevalence of SLE is estimated to be 1.2% (compared to 0.02-0.05% in the general population). It is unclear if the predisposition for TEN in SLE patients is because of the underlying inflammatory state or because of medications SLE patients often require, such as NSAIDs. Differentiating SLE from TEN is complicated by clinical and histologic similarities. Pathology often demonstrates subepidermal vacuoles, necrotic keratinocytes, and confluent epidermal necrosis, which is found in SLE and TEN. Bullous eruptions and erosive mucosal involvement are typical features in TEN, but can also be found in SLE. This patient developed skin and mucosal lesions after starting new medications and had improvement without steroids, which makes active SLE less likely. Normal complement and serology also supports the clinical diagnosis of TEN over active SLE. CONCLUSIONS: Mortality in patients with SJS and TEN exceeds 10 and 30% respectively. Because the management of active SLE lesions and TEN differ greatly, early recognition of TEN can be life saving. High index of suspicion, early biopsy, and serology can be helpful in differentiating such cases. Reference #1: M. Ziemer, et al, “Stevens-Johnson syndrome and toxic epidermal necrolysis in patients with lupus erythematosus: a descriptive study of 17 cases from a national registry and review of the literature,” Brit J Dermatol 2012; 166 (3), 575-600. Reference #2: Ranario JS, et al. Bullous lesions in a patient with systemic lupus erythematosus. J Clin Aesthet Dermatol 2014; 7:44-49 DISCLOSURE: The following authors have nothing to disclose: Gauri Behari, Sukhdeep Malhi, Bradley Tymchuk, Ronnie Self II, Suman Lata, Ibrahim El-Abbassi No Product/Research Disclosure Information

Sweet's syndrome in a patient with chronic lymphocytic leukaemia

Bullous Sweet's syndrome is a rare variant of the inflammatory neutrophilic dermatosis characterised by painful bullous skin lesions, fever, leukocytosis and a neutrophilic infiltrate of the dermis. The condition may...

Bullous Skin Manifestations of Mycoplasma pneumoniae Infection: A Case Series.

Bullous skin lesions are uncommon in children. While it is well known that Mycoplasma infections are associated with papular skin manifestations, bullous skin lesions are not commonly reported. Mycoplasma pneumoniae is a very common bacterial pathogen causing respiratory tract infection in children and adults. We report 2 children with serology-confirmed Mycoplasma infection who were hospitalized for blistering skin lesions. Both of our patients responded well to corticosteroids and one of them required intravenous immunoglobulin. The aim of this case report is to raise awareness that Mycoplasma pneumoniae infection can present with bullous skin lesions, and to briefly review the pathophysiology, diagnosis, and management of the skin manifestation of Mycoplasma infection.

Bullous Pemphigoid Induced by Vildagliptin

Bullous pemphigoid (BP) is an uncommon chronic, autoimmune, and subepidermal disease (1). Tense blisters occur over normal or erythematous skin. (1) BP may be localized or generalized. It may involve both skin of extremities and trunk and mucosa. Pruritus may precede bullae formation by weeks or months. It can be associated with drugs, UV irradiation, and X-ray therapy (1). There is a number of reports on bullous pemphigoid (BP) induced by DPP-IV inhibitors (vildagliptin, sitagliptin) used for treatment of type 2 DM (2-6). Although skin lesions were not observed at an increased incidence in clinical trials, there have been post-marketing reports of bullous and exfoliative skin lesions. The enzyme dipeptidyl peptidase (DPP-IV) degrades glucagon like peptide 1 (GLP-1), which is a potent stimulator of insulin production and secretion (7). DPP-IV is expressed by diverse tissues including skin (7). In the skin, many cell types (including keratinocytes) express DPP-4, giving rise to cytokine production, tissue differentiation and collagen metabolism (7). Some factors Bullous pemphigoid (BP) is an uncommon chronic, autoimmune, and subepidermal disease. Tense blisters occur over normal or erythematous skin. It can be associated with drugs. There is a number of reports on bullous pemphigoid (BP) induced by DPP-IV inhibitors (vildagliptin, sitagliptin, saxagliptin). DPP-IV (CD26), present as a cell surface molecule on immune cells, also plays an important costimulatory role in immune activation. We present a case of BP induced by vildagliptin. A 59 yr old male patient who was diagnosed type 2 DM had initial haemoglobin A1c level of 12.90%. Initial therapy with premix biphasic aspart insulin bid was switched to metformin and vildagliptin 50/1000 mg combo pill bid after A1c level dropped to 5.7% at 9 months of insulin therapy, Five months after vildagliptin was started, tense vesicles 8-10 in number with an erythematous base developed over forearms and cruris. Histologic examination of the lesions confirmed bullous pemphigoid. Oral antidiabetics were discontinued. He was followed up with diet alone. The lesions regressed spontaneously after cessation of antidiabetics and clobetasol propionate cream bid treatment. A1c was 5.7% 5 months after discontinuation of vildagliptin and metformin. In the literature onset of BP lesions took 10 days to 2 years. Mostly the patients were on combo therapy with metformin. The lesions improved dramatically after cessation DPP-IV inhibitors avoiding necessity for systemic treatment for BP. Elder males predominate. This is the first case of BP induced by DPP-IV inhibitors Turkey.

Bullous skin lesions in a patient with end-stage renal disease combined with myeloma and primary amyloidosis

Amyloidosis is a systemic disease involving multiple organs such as heart, kidney, and skin. It can also present with diverse skin lesions such as pinch hemorrhages and maculopapular eruptions; however, hemorrhagic bullous lesions are very rare. Here, I introduce a case of bullous amyloidosis undergoing hemodialysis for the treatment of end-stage renal disease. An 82-year-old woman was diagnosed with chronic kidney disease about 2 years ago. Recently, she visited our clinic for severe uremic symptoms. Laboratory test results showed severe azotemia, nephrotic-range proteinuria, severe anemia, and markedly increased serum-free light chain. Hemodialysis was initiated, and her symptoms were remarkedly relieved. Bone marrow examination and abdominal skin excisional biopsy revealed light-chain lambda-type multiple myeloma and combined amyloid light-chain amyloidosis, respectively. Her multiple myeloma and amyloid light-chain amyloidosis showed a partial response to chemotherapy with cyclophosphamide and prednisolone. However, she developed pneumonia a few weeks after the chemotherapy and was immediately treated with appropriate antibiotics. Several days later, however, she developed extensive hemorrhagic bullous skin lesions without itching sensation on her whole abdomen, back, both extremities, and face (Fig. 1). An excisional biopsy revealed subepidermal blisters with hemorrhage and amyloid deposition. Immunofluorescence staining for IgG, IgA, IgM, C1q, C3, and fibrinogen was negative, whereas Congo red staining for amyloid deposits was positive (Fig. 2).

Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant.

Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familial LEMD3 mutations. Case Report. A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions. Evaluation revealed multiple hyperostotic lesions (osteopoikilosis) suggestive of BOS. DNA sequencing identified a previously undescribed nonsense mutation (Trp621X) in the LEMD3 gene encoding Man1. Two additional family members were found to have osteopoikilosis and carry the same LEMD3 mutation. Conclusions and Relevance. We report a unique familial LEMD3 mutation in an individual with osteopoikilosis and late-onset morphea. We propose that this constellation represents a novel syndromic variant of BOS.

Amiodarone-induced exudative bullous lesion and hepatotoxicity in a patient with ventricular tachycardia

Amiodarone is a potent, iodine rich, highly lipophilic class III antiarrhythmic drug widely used for the management of both supraventricular and ventricular arrhythmias. It tends to concentrate in tissues including fat, lung, liver cornea and skin. Several side effects have been reported in patients taking amiodarone. The mechanisms of amiodarone-induced side effects are poorly understood. Accumulation of amiodarone in tissues and organs has been suggested as a possible mechanism. The most frequent dermatologic side effects are photosensitivity, skin discoloration and erythema. This article presents the case of a patient who developed amiodarone-induced bullous skin lesions and hepatotoxicity.

Vascularite urticarienne hypocomplémentémique avec lésions bulleuses et péricardite spécifique

Hypocomplementemic urticarial vasculitis syndrome (HUVS) is a rare disease involving urticarial cutaneous vasculitis, hypocomplementaemia and systemic manifestations. Pericardial involvement occurs in very rare cases. We report a case of HUVS associated with specific pericarditis and bullous lesions. A 63-year-old woman consulted for chronic urticaria that had appeared ten months earlier. Her skin lesions were associated with weight loss of 10 kg, deterioration of respiratory function and abdominal pain. Leukocytoclastic vasculitis was seen in the skin biopsy sample. Hypocomplementaemia and anti C1q antibodies were present and a diagnosis of HUVS was made. During hospitalisation, extensive compressive pericardial effusion was identified, and histological examination of the biopsy revealed specific pericardial lymphocytic vasculitis. During follow-up, four episodes of infectious pneumonitis were noted. Bullous skin lesions were also observed. HUVS is a disease caused by an antibody against C1q complement responsible for urticarial lesions and vasculitis antibodies. To our knowledge, there have been only five reports in the literature of pericardial injury associated with HUVS. In our case, histological examination of the pericardium demonstrated lymphocytic vasculitis.