RESUMO
Adult-onset Still's disease (AOSD) is a rare, systemic inflammatory disorder of not completely understood etiology. Aberrant activation of the innate immune system and overproduction of several pro-inflammatory mediators are considered a critical component in disease pathogenesis. AOSD still poses a challenge due to the broad range of differential diagnoses and no specific biomarkers. Four cardinal symptoms are quotidian spiking fever, joint involvement, evanescent salmon pink-rash rash, and leukocytosis with neutrophilia. We present a case of a 61-year-old female with a recurrent urticarial rash accompanied by attacks of high fever, tender joints, sore throat, enlarged liver, elevated inflammatory reactants, and hyperferritinemia. After an extensive workup, the patient fulfilled the criteria of AOSD. She was refractory to the glucocorticosteroids and disease-modifying anti-rheumatic drugs (DMARDs). Finally, after several unsuccessful attempts to achieve disease control with traditional DMAR's administration of Tocilizumab (TCZ), a humanized anti-IL-6 receptor antagonist resulted in substantial disease improvement. Since skin manifestations are a common feature of AOSD, it should be among differential diagnoses in patients with skin lesions and constitutional symptoms. Biologic agents represent a significant therapeutic advance in patients with AOSD refractory to conventional therapy.
Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Antirreumáticos/uso terapêutico , Doença de Still de Início Tardio/diagnóstico , Doença de Still de Início Tardio/tratamento farmacológico , Artrite/diagnóstico , Artrite/etiologia , Biópsia por Agulha , Resistência a Medicamentos , Feminino , Febre/diagnóstico , Febre/etiologia , Seguimentos , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Retratamento , Medição de Risco , Doença de Still de Início Tardio/imunologia , Fatores de Tempo , Resultado do Tratamento , Urticária/diagnóstico , Urticária/etiologiaRESUMO
Bullous pemphigoid is the most common autoimmune blistering disorder in the elderly. It affects people aged 70 years or older. Clinically it is characterized by intensely pruritic eruption consisting of widespread tense blisters on an erythematous background. It is associated with cellular and humoral responses against hemidesmosomal components of the skin and mucous membranes. In contrast, infantile bullous pemphigoid is exceedingly rare disease and presents with some unique features like favorable prognosis, possible association with vaccination, and primary involvement of acral surfaces. Herein, we present a case of 4,5-month-old infant with neonatal pemphigoid, successfully treated with a combination of intravenous immunoglobulins and pulse methylprednisolone.
Assuntos
Anti-Inflamatórios/uso terapêutico , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Metilprednisolona/uso terapêutico , Penfigoide Bolhoso/tratamento farmacológico , Vacina contra Difteria, Tétano e Coqueluche/efeitos adversos , Quimioterapia Combinada , Feminino , Vacinas Anti-Haemophilus/efeitos adversos , Humanos , Lactente , Penfigoide Bolhoso/etiologia , Vacina Antipólio de Vírus Inativado/efeitos adversos , Vacinas Combinadas/efeitos adversosRESUMO
Background: Dermatological conditions extend beyond physical symptoms, profoundly impacting the psychological well-being of patients. This study explores the intricate relationship between depressive symptoms, quality of life (QoL), and personality traits in individuals diagnosed with specific genodermatoses. Methods: The study cohort comprised 30 patients with genodermatoses treated at the dermatology clinic, and a healthy control group. Standardized survey questionnaires: The Dermatology Life Quality Index (DLQI), Beck's Depression Inventory (BDI), and NEO Five-Factor Inventory (NEO-FFI) were employed for assessments. Results: The findings indicate a significantly elevated risk of severely or very severely reduced QoL in the study group compared to matched controls (OR = 22.2, 95% CI: 2.7-184.8). Specifically, individuals with ichthyosis exhibited a staggering 131-fold higher risk of diminished QoL compared to the control group. Furthermore, the prevalence of depression was higher in the study group than in the control group (36.7% vs. 10%; p = 0.0086). A detailed analysis revealed that patients with low or average agreeableness exhibited a notably higher incidence of depression compared to those with high agreeableness (100% or 75% vs. 28.6%; p = 0.0400). Similarly, individuals with high levels of neuroticism had a significantly higher incidence of depression compared to those with average or low levels of neuroticism (rates: 66.7% vs. 9.1% or 0%, respectively; p = 0.0067). Conclusions: The study underscores a substantial correlation between genodermatoses and the mental health of affected individuals, underscoring the imperative consideration of psychological factors in the management of hereditary skin disorders. Our study's primary limitation is the small sample size, stemming from difficulties in recruiting participants due to the rare nature of the studied conditions.
RESUMO
BACKGROUND: Patient-reported outcome measures (PROMs) are validated and standardized tools that complement physician evaluations and guide treatment decisions. They are crucial for monitoring atopic dermatitis (AD) and chronic urticaria (CU) in clinical practice, but there are unmet needs and knowledge gaps regarding their use in clinical practice. OBJECCTIVE: We investigated the global real-world use of AD and CU PROMs in allergology and dermatology clinics as well as their associated local and regional networks. METHODS: Across 72 specialized allergy and dermatology centers and their local and regional networks, 2,534 physicians in 73 countries completed a 53-item questionnaire on the use of PROMs for AD and CU. RESULTS: Of 2,534 physicians, 1,308 were aware of PROMs. Of these, 14% and 15% used PROMs for AD and CU, respectively. Half of physicians who use PROMs do so only rarely or sometimes. Use of AD and CU PROM is associated with being female, younger, and a dermatologist. The Patient-Oriented Scoring Atopic Dermatitis Index and Urticaria Activity Score were the most common PROMs for AD and CU, respectively. Monitoring disease control and activity are the main drivers of the use of PROMs. Time constraints were the primary obstacle to using PROMs, followed by the impression that patients dislike PROMs. Users of AD and CU PROM would like training in selecting the proper PROM. CONCLUSIONS: Although PROMs offer several benefits, their use in routine practice is suboptimal, and physicians perceive barriers to their use. It is essential to attain higher levels of PROM implementation in accordance with national and international standards.
Assuntos
Urticária Crônica , Dermatite Atópica , Medidas de Resultados Relatados pelo Paciente , Humanos , Dermatite Atópica/terapia , Dermatite Atópica/diagnóstico , Feminino , Masculino , Adulto , Inquéritos e Questionários , Pessoa de Meia-Idade , UrticáriaRESUMO
Diffuse cutaneous mastocytosis is the rarest subtype of mastocytosis among those that affect children. A 7-month-old girl presented at birth dry and thickened skin. On the second day of life, tense blisters appeared on erythrodermic areas and during the next days spread over the face, trunk, and limbs. The skin was bright red, had a "peau d'orange" appearance, and was considerably thickened with numerous translucent and hemorrhagic blisters. A skin biopsy revealed massive infiltration of the dermis with mast cells, leading to the diagnosis of diffuse erythrodermic mastocytosis. Systemic corticosteroids were given along with antihistamines with good results. Despite the progresses in the understanding of pathogenesis, genetics, and diagnostic criteria of mastocytosis, clear and reliable prognostic markers are still lacking, especially in order to predict systemic involvement. not only in diffuse but also in the commoner forms of the disease.
Assuntos
Glucocorticoides/uso terapêutico , Antagonistas dos Receptores Histamínicos/uso terapêutico , Mastocitose Cutânea/tratamento farmacológico , Biópsia , Quimioterapia Combinada , Feminino , Glucocorticoides/administração & dosagem , Antagonistas dos Receptores Histamínicos/administração & dosagem , Humanos , Recém-Nascido , Mastócitos/metabolismo , Mastocitose Cutânea/diagnóstico , Mastocitose Cutânea/patologia , Resultado do TratamentoRESUMO
Cutaneous larva migrans (CML) is a frequent parasitic infestation caused by migration of animal hookworm larvae into the human epidermis. This skin disease is common in warmer climates among people, who have contact with contaminated soil. Clinical manifestation of CML is an itchy, erythematous, linear tract, which appears days to even months after exposure to infested sand or soil. Diagnosis is established on the clinical presentation. We describe a case of CML acquired during a holiday in Brazil.
RESUMO
BACKGROUND: Skin lesions on the feet and foot deformities impair daily activities and decrease quality of life. Although substantial foot deformities occur in many genodermatoses, few reports have been published on this topic. Therefore, we performed a retrospective chart review to identify patients with genodermatoses and foot disorders. We included 16 patients, who were investigated clinically and with molecular biology. RESULTS: The following genodermatoses with foot deformities were detected: autosomal recessive congenital ichthyosis (ARCI, n = 7); palmoplantar keratodermas (PPKs, n = 6); ichthyosis follicularis, atrichia, and photophobia (IFAP, n = 1); ectrodactyly-ectodermal dysplasia-clefting (EEC, n = 1); and ichthyosis with confetti (IWC, n = 1). Foot problems not only varied in severity depending on the disease but also showed phenotypic heterogeneity among patients with the same condition. Foot deformities were most pronounced in patients with EEC (split foot) or IWC (contractures) and less severe in those with ARCI (clawed toes), IFAP (hollow feet), or PPK (no bone abnormalities in the feet). CONCLUSION: Because a range of distinct genodermatoses involve foot abnormalities, early rehabilitation and other corrective measures should be provided to patients with foot involvement to improve gait and prevent/delay irreversible complications.
Assuntos
Ictiose , Ceratodermia Palmar e Plantar , Humanos , Ictiose/genética , Fotofobia/congênito , Qualidade de Vida , Estudos RetrospectivosRESUMO
Psoriasis is currently considered a multifactorial disease, which can coexist with many somatic and psychological disorders. We present the case of a 50-year-old woman referred to our department due to erythroderma with concomitant peculiar violaceous, polycyclic lesions most likely induced by medications. Past medical history revealed numerous systemic disorders, including metabolic syndrome, hypertension, cardiac insufficiency, obesity, and depression. Additional examinations and consultations demonstrated dyslipidemia, xanthelasma, incomplete block of the right branch of His bundle, thyreocardiac syndrome, benign adrenal tumor, and delusions. Recently, psoriasis has been intensively studied. We present the case in which erythroderma was most likely triggered by acitretin combined with ceftriaxone. Treatment of many diseases and psychiatric disturbances coexisting with psoriasis is extremely difficult and requires cooperation of various specialists.
Assuntos
Acitretina/efeitos adversos , Antibacterianos/efeitos adversos , Ceftriaxona/efeitos adversos , Toxidermias/etiologia , Eritema Multiforme/etiologia , Ceratolíticos/efeitos adversos , Psoríase/tratamento farmacológico , Comorbidade , Dermatite Esfoliativa/tratamento farmacológico , Dermatite Esfoliativa/etiologia , Dermatite Esfoliativa/patologia , Toxidermias/tratamento farmacológico , Toxidermias/patologia , Eritema Multiforme/tratamento farmacológico , Eritema Multiforme/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Psoríase/complicações , Fatores de RiscoRESUMO
Angioimmunoblastic T-cell lymphoma (AITL) is an uncommon lymphoma of elderly adults with a poor prognosis. AITL patients show systemic symptoms, lymphadenopathy, and not infrequently, skin rash with various dysimmune phenomena rashes. The case is presented of a 68-year-old male with skin rash, lymphadenopathy and hypereosinophilia who, after investigations, was diagnosed with AITL. Despite the treatment used, the patient's condition gradually deteriorated and died due to heart and kidney failure. The diagnosis of AITL is often established only after several weeks or months because of transient physical findings, non-specific symptoms, and a broad range of serologic or radiologic abnormalities. Some patients with AITL experience non-specific dermatitis and eosinophilia. The presented case should raise awareness of the presentations of AITL which is important for physicians to reach an accurate diagnosis.
Assuntos
Eosinofilia/diagnóstico , Exantema/diagnóstico , Linfadenopatia Imunoblástica/diagnóstico , Linfoma de Células T/diagnóstico , Idoso , Eosinofilia/patologia , Exantema/patologia , Humanos , Linfadenopatia Imunoblástica/patologia , Linfoma de Células T/patologia , MasculinoRESUMO
Cutaneous T cell lymphomas other than mycosis fungoides, Sezary syndrome, and primary cutaneous CD30+ lymphoproliferations constitute less than 10% of all cutaneous T cell lymphomas. Primary cutaneous small/medium CD4+ T cell lymphoma is a member of this third group of cutaneous lymphomas, separated out as provisional entity in the World Health Organization classification - European Organization for Research and Treatment of Cancer (WHO-EORTC) classification. It still awaits development of more precise diagnostic criteria and optimal therapy. We report a case of primary cutaneous CD4 + small/medium-sized pleomorphic T cell lymphoma accompanied with myelodysplastic syndrome successfully treated with cyclophosphamide. It seems that cyclophosphamide as a single-agent chemotherapy in patients with disseminated lesions might be safe and quite effective therapeutic option.
Assuntos
Antineoplásicos Alquilantes/uso terapêutico , Linfócitos T CD4-Positivos/efeitos dos fármacos , Ciclofosfamida/uso terapêutico , Leucemia Mielomonocítica Crônica/tratamento farmacológico , Linfoma Cutâneo de Células T/tratamento farmacológico , Síndromes Mielodisplásicas/tratamento farmacológico , Neoplasias Cutâneas/tratamento farmacológico , Idoso , Biópsia , Linfócitos T CD4-Positivos/imunologia , Linfócitos T CD4-Positivos/patologia , Feminino , Humanos , Imuno-Histoquímica , Leucemia Mielomonocítica Crônica/imunologia , Leucemia Mielomonocítica Crônica/patologia , Linfoma Cutâneo de Células T/complicações , Linfoma Cutâneo de Células T/imunologia , Linfoma Cutâneo de Células T/patologia , Síndromes Mielodisplásicas/imunologia , Síndromes Mielodisplásicas/patologia , Pele/imunologia , Pele/patologia , Neoplasias Cutâneas/imunologia , Neoplasias Cutâneas/patologia , Resultado do TratamentoRESUMO
Psoriasis is a chronic debilitating skin disease with an estimated prevalence reaching 2% of the worldwide population. Psoriatic disease is driven by a network of complicated reciprocal interactions among innate and adaptive mechanisms of immune system with structural components of the skin. Interleukin (IL)-22 mediates keratinocyte proliferation and epidermal hyperplasia, inhibits terminal differentiation of keratinocytes, and induces the production of antimicrobial proteins. The aim of this study was the assessment of IL-22 levels and its correlation with disease activity in plaque psoriasis. The study group included 64 patients with mild, moderate and severe psoriasis. Control group was composed of 24 sex- and age-matched healthy volunteers. IL-22 concentration was assessed in supernatants of T-cell cultures as well as in the plasma of study and control group with the use of ELISA method. Statistical analysis showed that concentration of IL-22 in cultures exposed to staphylococcal enterotoxin B was significantly higher than in control samples (p = 0.005) and cultures treated with IL-12 (p = 0.005). Patients with psoriasis presented significantly higher concentrations of IL-22 than healthy individuals (p = 0.0000001). In conclusion, IL-22 may collaborate with other soluble factors and cells together forming inflammatory circuits that otherwise exist as constitutive or inducible pathways in normal skin and become pathologically amplificated in psoriasis. Targeting IL-22 may be promising as a potential therapeutic for plaque psoriasis.
Assuntos
Interleucinas/metabolismo , Queratinócitos/fisiologia , Psoríase/imunologia , Pele/patologia , Linfócitos T/imunologia , Adulto , Idoso , Células Cultivadas , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Regulação para Cima , Interleucina 22RESUMO
BACKGROUND: Clouston syndrome belongs to the family of ectodermal dysplasias. So far, a defective immune response has not been reported in Clouston syndrome. We report, for the first time, immunological particularities of a large multigenerational Polish family with Clouston syndrome. METHODS: Five members of the same family with Clouston syndrome, aged 6-76 years, and 20 healthy volunteers, aged 19-73 years, were enrolled in the study. In all participants, the ability of neutrophils to phagocytize opsonized Escherichia coli was assessed. Granulocyte oxidative burst was determined quantitatively, and an isolation of peripheral blood mononuclear cells and the detection of lymphocyte subsets were performed. All patients with Clouston syndrome underwent microscopic assessment of hair shafts, x-rays of the skull and hand bones, extra- and intraoral examination, and panoramic x-rays. RESULTS: Compared to the controls, all patients with Clouston syndrome presented with significantly reduced phagocytic activities of granulocytes and monocytes (P < 0.05). The percentages of granulocytes and monocytes being positive for oxidative burst were also significantly reduced in all patients with Clouston syndrome (P < 0.05). No disturbances in the percentages and absolute counts of T CD3+, T CD3+/CD4+, T CD3+/CD8+, natural killer, and B CD19+ cells were found. CONCLUSION: Although this study expands knowledge about Clouston syndrome, it also raises many questions. The results provide evidence of significantly reduced phagocytic activity and oxidative bursts of cells playing crucial roles in a nonspecific immune response. Further studies are required to understand the underlying mechanism of the hereby described abnormalities.
Assuntos
Displasia Ectodérmica/imunologia , Monócitos/imunologia , Neutrófilos/imunologia , Linfócitos T , Adulto , Idoso , Linfócitos B , Linfócitos T CD4-Positivos , Linfócitos T CD8-Positivos , Estudos de Casos e Controles , Criança , Conexina 30 , Conexinas/genética , Displasia Ectodérmica/genética , Granulócitos/imunologia , Humanos , Contagem de Linfócitos , Pessoa de Meia-Idade , Células T Matadoras Naturais , Fagocitose , Explosão Respiratória , Adulto JovemRESUMO
The number of dermatologic entities that can be studied by ultrasound examination (US) of the skin is increasing. Conventional US and high frequency US (HFUS) are considered useful additional tools in improving the diagnosis and management of common benign and malignant skin tumors. US may help in positive and differential diagnosis of primary melanocytic neoplasms and of locoregional spread in melanoma patients. US preoperative evaluation of primary melanoma thickness correlates with histologically estimated melanoma thickness, and can help determine surgical margins and indications for sentinel lymph node biopsy. It is also useful during follow-up after surgical treatment for early detection of recurrence or metastases. In this case report, we present two cases of skin lesions clinically suspicious for malignancy. The first lesion was a round nodule 3 mm in diameter, resembling a blue nevus. In HFUS it was well delimited, hypoechoic, and well vascularized. The second lesion presented as an elevated, well-circumscribed nodule, 5-6 mm in diameter, inhomogeneous in color. HFUS depicted a poorly delimited, irregular, hypoechoic lesion crossing the dermoepidermal junction. At the first exam it was not vascularized, but 6 months later a number of vascular flow signals within the lesion were found. In histopathological examination the lesions were finally diagnosed as, respectively: benign cavernous hemangioma and melanoma. In both presented cases HFUS proved to be useful in a differential diagnosis of suspicious skin lesions. Noninvasive and easy to perform, HFUS is a valuable diagnostic method in dermatology.
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Hemangioma Cavernoso/diagnóstico por imagem , Melanoma/diagnóstico por imagem , Neoplasias Cutâneas/diagnóstico por imagem , Ultrassonografia Doppler em Cores , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/patologia , Hemangioma Cavernoso/cirurgia , Humanos , Masculino , Melanoma/patologia , Melanoma/cirurgia , Pessoa de Meia-Idade , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Adulto JovemRESUMO
We report the case of a 73-year-old man with massive swelling of the lower extremities, with a chronic and rather uncommon form of stasis dermatitis - stasis papillomatosis. The patient was also diagnosed with severe heart failure, including dilated cardiomyopathy, hypothyroidism that required a substantial dose of exogenous tyrosine, microcytic and megaloblastic anemia, iron deficiency, and type 2 diabetes. The cause of stasis dermatitis lesions is not completely understood. It may be caused by the allergic reaction to some epidermal protein antigen formation or chronic damage to the dermal-epidermal barrier that makes the skin more sensitive to irritants or trauma. It has, however, been suggested that the term stasis dermatitis should be used to refer only to cases caused by chronic venous insufficiency, which belongs to a group of lifestyle diseases and affects both women and men more and more frequently.
Assuntos
Dermatite/patologia , Insuficiência Cardíaca/diagnóstico , Varizes/patologia , Idoso , Biópsia por Agulha , Doença Crônica , Dermatite/complicações , Dermatite/terapia , Seguimentos , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/terapia , Humanos , Hipotireoidismo/complicações , Hipotireoidismo/diagnóstico , Hipotireoidismo/tratamento farmacológico , Imuno-Histoquímica , Dermatoses da Perna/complicações , Dermatoses da Perna/patologia , Dermatoses da Perna/terapia , Masculino , Papiloma/complicações , Papiloma/patologia , Papiloma/terapia , Varizes/complicações , Varizes/terapiaRESUMO
INTRODUCTION: The medical leech (Hirudo medicinalis) has been used throughout the centuries and continues to be used today, mainly in reconstructive surgery and microsurgery. Easy access to these animals may entail an improper use of this therapeutic method by patients as a form of self-treatment. CASE REPORT: A man who presented with skin erythema and oedema due to the application of a medical leech. DISCUSSION: Infection is considered the most common complication of hirudotherapy, even though bacteriological examination of leech applied by the patient showed neither bacterial nor parasitic infection. The skin lesions were probably of allergic origin; whether this reaction was due to substances released from the leech or as a consequence of reusing the same leech, remains to be determined.
Assuntos
Dermatite de Contato/etiologia , Hirudo medicinalis/fisiologia , Aplicação de Sanguessugas/efeitos adversos , Animais , Crioterapia , Dermatite de Contato/diagnóstico , Dermatite de Contato/dietoterapia , Dermatite de Contato/terapia , Diagnóstico Diferencial , Hirudo medicinalis/microbiologia , Humanos , Masculino , Pessoa de Meia-Idade , Polônia , Resultado do TratamentoRESUMO
BACKGROUND: Ichthyosis Follicularis, Atrichia and Photophobia (IFAP) syndrome is a rare genodermatosis due to mutations of the MBTPS2 gene. To date fewer than 40 cases have been described in the literature. OBJECTIVES: To present the first case of IFAP diagnosed in Poland due to a novel mutation of MBTPS2, and to review the relevant literature on this rare genodermatosis. MATERIALS & METHODS: A 16-year-old male presented with typical clinical features of IFAP, along with psoriasiform skin plaques, nail dystrophy, facial dysmorphy, mental retardation, severe skeletal abnormalities and chorea-like movements. DNA analysis was performed in the patient and his clinically unaffected mother, maternal grandmother and sisters. RESULTS: A novel missense mutation p.Cys334Tyr (c.1001G>A) was found in exon 8 of the MBTPS2 gene. This mutation was also found in his clinically unaffected mother and maternal grandmother, but not his healthy sisters. CONCLUSIONS: This patient with IFAP, the first described from Poland, is original by virtue of its extensive skeletal, cutaneous and neurologic manifestations and the novel missense mutation of the MBPTS2 gene. The identification of a novel mutation further expands the known MBPTS2 molecular repertoire and the spectrum of associated clinical findings.
Assuntos
Alopecia/genética , Ictiose/genética , Metaloendopeptidases/genética , Mutação de Sentido Incorreto , Fotofobia/genética , Adolescente , Alopecia/complicações , Humanos , Ictiose/complicações , Masculino , Anormalidades Musculoesqueléticas/genética , Fenótipo , Fotofobia/complicações , Polônia , Índice de Gravidade de Doença , Dermatopatias/genéticaRESUMO
The investigations were carried out on five placentas derived from normal pregnancies and on the five placentas derived from the pregnancies with intrauterine growth restriction (IUGR) of fetuses. Semithin sections were stained with methylene blue and azure and estimated by light microscope. Ultrathin sections were stained according to the Reynold's method and estimated by the electron microscope. Two types of irregularity were observed: 1) lack of vessels with a concomitant increase of macrophage number in the stroma of villi, 2) an increased number of vessels and the presence in syncytiotrophoblast of a wide space near the basal membrane preventing the exchange between the maternal blood and the fetal blood.