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Presentación del caso. Se expone el caso de un paciente masculino de 48 años de edad, sin antecedentes médicos conocidos, que presentó múltiples lesiones en forma de placas eritematocostrosas fácilmente descamativas, inicialmente en tórax anterior, que se esparcían sobre el rostro y cuero cabelludo sin afectar las mucosas. Intervención terapéutica. El manejo hospitalario se basó fundamentalmente en el uso de esteroides tópicos y sistémicos, así como el manejo de las infecciones sobreagregadas a las lesiones dermatológicas y el apoyo psicológico del paciente. Se tomó biopsia de piel donde se evidenció la presencia de acantólisis, confirmando el diagnóstico de esta enfermedad autoinmunitaria. Evolución clínica. Luego del tratamiento se logró una reducción de las múltiples lesiones descamativas, el control de la infección local y la recuperación de la piel del paciente, la cual a pesar de aún presentar cicatrices se encontraba con sus funciones restituidas
Case presentation. a 48-year-old male with no known medical history who presented multiple lesions in the form of easily desquamative erythematous and crusted plaques, initially on the anterior thorax, which spread over the face and scalp without affecting the mucous membranes. Treatment. In-hospital management was mainly based on topical and systemic steroids, the management of infections superadded to the dermatologic lesions, and psychological support for the patient. A skin biopsy was taken where acantholysis was evidenced, confirming the autoimmune disease diagnosis. Outcome.After treatment, the multiple scaly lesions were reduced, the local infection was controlled, and the patient's skin recovered although it still had scars, its functions were restored
Subject(s)
Humans , El SalvadorABSTRACT
Abstract Background Anti-desmoglein 1 and 3 autoantibodies justify acantholysis in pemphigus; however, the pathogenesis of anti-desmoglein 2 is hypothetical. Objective To compare the participation of desmogleins 1, 2 and 3 through the production of serum autoantibodies, and protein and gene expression in the skin/mucosa of patients with pemphigus foliaceus and pemphigus vulgaris. Methods The autoantibodies were titrated by ELISA in 202 samples of pemphigus foliaceus, 131 pemphigus vulgaris, 50 and 57 relatives of patients with pemphigus foliaceus and pemphigus vulgaris, respectively, and 114 controls. Protein and gene expressions were determined by immunohistochemistry and qPCR in the skin/mucosa of 3 patients with pemphigus foliaceus and 3 patients with pemphigus vulgaris. Results Higher titers of anti-desmoglein 2 (optical density) resulted in pemphigus foliaceus and pemphigus vulgaris, when compared to controls (0.166; 0.180; 0.102; respectively; p < 0.0001). There was a correlation between anti-desmoglein 2 and anti-desmoglein 1 titers in pemphigus foliaceus (r = 0.1680; p = 0.0206). There was no cross-reaction of anti-desmoglein 2 with desmoglein 1 and 3. Protein overexpression of desmoglein 2 was observed in intact and lesional skin of patients with pemphigus compared to the skin of controls. Internalization granules of desmoglein 1 and 3, but not of desmoglein 2, were observed in lesions of pemphigus foliaceus and pemphigus vulgaris, respectively. Gene overexpression of desmoglein 2 was observed in the mucosa. Study limitations Small sample size for the statistical analysis of protein and gene expression. Conclusion Autoantibodies against desmoglein 2 are not pathogenic in pemphigus; protein and gene overexpression of desmoglein 2 in the skin and mucosa may be involved in acantholysis repair.
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Resumen La enfermedad de Hailey-Hailey, también llamada pénfigo familiar benigno, corresponde a una genodermatosis debilitante que se transmite mediante un patrón autosómico dominante, con una prevalencia de alrededor de 1 en 50.000 casos. El reporte de antecedentes familiares está presente hasta en 60 % de los pacientes. Se caracteriza por la presencia de vesículas crónicas y recurrentes, erosiones y exulceraciones en zonas de flexura. El tratamiento puede representar un reto, porque a pesar del manejo con terapias tópicas, corticosteroides sistémicos, inmunomoduladores sistémicos y el empleo de láser, ninguna terapia ha logrado una remisión a largo plazo. Se presenta el caso de un paciente masculino, adulto medio, sin antecedente familiar alguno, con historia de placas de superficie descamativa y hematocostras recurrentes crónicas y presentación clínica atípica, dada la localización de lesiones predominantes en miembros superiores, con sospecha inicial de psoriasis vulgar, con posterior toma de biopsia y reporte de patología que evidencia histológia típica de PBF. Por lo cual se indica manejo con corticosteroides sistémicos, sin evidencia de reacciones adversas y con remisión a largo plazo. MÉD.UIS.2020;34(1):101-6
Abstract Hailey-Hailey disease, also called benign familial pemphigus, corresponds to a debilitating genodermatosis that is transmitted through an autosomal dominant pattern, with a prevalence of around 1 in 50,000 cases. The family history report is present in up to 60% of patients. It is characterized by the presence of chronic and recurrent vesicles, erosions and exulcerations in flexural areas. Treatment can be challenging, because despite management with topical therapies, systemic corticosteroids, systemic immunomodulators, and the use of lasers, no therapy has achieved long-term remission.We present the case of a male patient, middle adult, without any family history, with a history of scaly surface plaques and chronic recurrent hematocostras and atypical clinical presentation given the location of predominant lesions in the upper limbs, with initial suspicion of vulgar psoriasis, with subsequent biopsy and pathology report showing typical PBF histology. Therefore, management with systemic corticosteroids without evidence of adverse reactions and with long-term remission is indicated. MÉD.UIS.2020;34(1):101-6
Subject(s)
Humans , Male , Middle Aged , Pemphigus, Benign Familial , Therapeutics , Acantholysis , Adrenal Cortex HormonesABSTRACT
Abstract A 55-year-old male presented with an eight-month history of erythematous papules and plaques with demarcated areas of spared skin on his trunk, upper extremities, neck, and face. Grover's disease is a rare, acquired disorder of unknown origin, which is classically characterized by the appearance of erythematous papules on the upper trunk that are usually transient. As in the present case, there are reports of atypical disease, with facial involvement, pityriasis rubra pilaris-like lesions, and a more chronic course.
Subject(s)
Humans , Male , Pityriasis Rubra Pilaris , Ichthyosis , Skin , Acantholysis/diagnosis , Middle AgedABSTRACT
Transient acantholytic dermatosis, or Grover's disease, usually appears as pruritic erythematous papules and vesicles on the trunk in middle-aged men. The pathogenesis remains unclear, though sun exposure, heat, and sweating may be aggravating factors. A 58-year-old male visited our clinic for evaluation of an asymptomatic erythematous patch on the left temple that developed 40 years ago. Here, we report the rare case of Grover's disease with atypical features presenting as one large patch on the face.
Subject(s)
Humans , Male , Middle Aged , Acantholysis , Hot Temperature , Skin Diseases , Solar System , Sweat , SweatingABSTRACT
La enfermedad de Darier White es una enfermedad autosómica dominante, de penetrancia completa con expresividad variable que afecta al cromosoma 12q23-24.1. Se caracteriza por manifestaciones dermatológicas como: placas o pápulas no foliculares en zonas seborreicas, que tienen un olor característico. La presente investigación busca presentar reportes de casos de dos pacientes, en un Hospital Universitario en Bogotá-Colombia y la relación que existe con enfermedades psiquiátricas, tales como: trastorno afectivo bipolar y retraso mental. Se realizó una historia clínica y examen físico completo. Posteriormente, se firmó un consentimiento informado para toma de fotos y uso de las mismas, con fines educativos. Con estos elementos, se buscó información en las bases de datos más requeridas hoy en día, como: Pubmed, Science Direct, Embase y Scielo utilizando búsquedas con palabras claves, relacionando enfermedad de Darier White y enfermedades psiquiátricas en general. Consecutivamente, se buscó información de trastorno afectivo bipolar y retraso mental. En definitiva se enfocó cada uno de los casos descritos, como enfermedad de Darier con la asociación clínica de enfermedades psiquiátricas, en relación con el trastorno afectivo bipolar y retraso mental, con los que esta enfermedad muestra una relación estrecha.
Darier White or dyskeratosis follicularis disease is a genetic disorder of autosomal dominant trait, affecting chromosome 12q23-24.1. It starts at first or second decade of life, it is characterized by cutaneous manifestations due to several hyperkeratotic papules that affect seborrheic areas such as head, neck and thorax. This article seeks to present reports of cases of two patients in a Hospital in Bogotá-Colombia and their relationship with psychiatric illnesses such as bipolar affective disorder and mental retardation. A complete clinical history was made, the patients were examined, and informed consent was signed for taking pictures and using them for educational purposes. With this information, we proceeded to look for bibliography in the most recognized databases such as: Pubmed, Science Direct, Embase using advanced searches with key words, related words like Darier White disease and its relationship with psychiatric illnesses in general. Finally, each of the cases described as Darier's disease was approached with the clinical association of psychiatric illnesses such as bipolar affective disorder and mental retardation, with which this disease shows a close relationship in relation to the percentages of presentation.
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Objective To analyze locations of acantholysis in pemphigus vulgaris (PV) and pemphigus foliaceus (PF),so as to explain why acantholysis in pemphigus occurs in different locations of the epidermis.Methods Clinical data,histopathological and immunopathological findings,and pemphigus antibody level values were collected from 43 patients with PV and 28 with PF,and retrospectively analyzed.Results Of the 43 patients with PV,35 showed acantholysis in the upper basal layer,8 in the middle-to-upper epidermis.Of the 28 patients with PF,25 showed acantholysis in the granular layer and the upper prickle cell layer,3 in the middle-to-lower epidermis.Patients with PF showed significantly higher levels of anti-Desmoglein 1 (Dsg1) antibody compared with patients with PV (P =0.047).However,there were no significant differences in the levels of anti-Dsg1 and anti-Dsg3 antibodies between PV patients who had acantholysis in the middle-to-upper epidermis and those in the upper basal layer.Conclusion Histopathological examinations of PV and PF lesions show that acantholysis can occur in the middle-to-upper epidermis,as well as in the middle-to-lower epidermis,and locations of acantholysis may be associated with levels of anti-Dsg1 and anti-Dsg3 antibodies.
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Grover disease (GD), also referred to as transient or persistent acantholytic dermatosis, is an acquired pruritic papular or papulovesicular eruption characterized histopathologically by focal acantholysis and dyskeratosis. Because GD resembles several generalized papular diseases, the diagnosis of GD is a clinical challenge, particularly when dermatologists meet patients without papular eruptions. We experienced two elderly men showing eczematoid plaques with severe pruritus on their backs. Histopathological examinations revealed a focal acantholysis, spongiosis, and dyskeratosis, a pattern consistent with GD. We report two cases of GD with clinical features of nonspecific eczematous dermatosis.
Subject(s)
Aged , Humans , Male , Acantholysis , Diagnosis , Pruritus , Skin DiseasesABSTRACT
Grover disease (GD), also referred to as transient or persistent acantholytic dermatosis, is an acquired pruritic papular or papulovesicular eruption characterized histopathologically by focal acantholysis and dyskeratosis. Because GD resembles several generalized papular diseases, the diagnosis of GD is a clinical challenge, particularly when dermatologists meet patients without papular eruptions. We experienced two elderly men showing eczematoid plaques with severe pruritus on their backs. Histopathological examinations revealed a focal acantholysis, spongiosis, and dyskeratosis, a pattern consistent with GD. We report two cases of GD with clinical features of nonspecific eczematous dermatosis.
Subject(s)
Aged , Humans , Male , Acantholysis , Diagnosis , Pruritus , Skin DiseasesABSTRACT
PEMPHIGUS is a serious chronic skin disease characterized by the appearance of vesicles & bullae, small or large fluid filled blisters that develop in cycles. The term pemphigus refers to a group of autoimmune blistering diseases of skin and mucous membranes that are characterized histologically by intraepidermal blisters due to acantholysis and immunopathologically by an in vivo bound & circulating IgG directed against the cell surface of keratinocytes. Pemphigus vulgaris is the most common form and frequently affects oral cavity. Main antigen is Dsg 3 (desmoglein) but 50% of patients also have autoantibodies to Dsg 1. Dsg 3: Dsg 1 is directly proportional to severity. We present a case of pemphigus occurring in the oral cavity of a 45-year-old male. Treatment with oral prednisolone and topical steroid resulted in remission of the disease. Clinical features, histological features and treatment of pemphigus vulgaris will be discussed.
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Objective To evaluate the reversal effect of a cholinergic receptor agonist on acantholysis in pemphigus,and to investigate its mechanism.Methods Human HaCaT keratinocytes were co-cultured with pemphigus vulgaris immunoglobulin G (PV-IgG) to establish a cell model of pemphigus,then classified into two groups to be incubated with the cholinergic receptor agonist carbachol for 12 hours (test group) or remain untreated (control group).Cell dissociation assay was performed to quantitatively estimate the reversal effect of carbachol on acantholysis,and immunofluorescence assay to qualitatively assess the changes of desmosomal proteins.Radio-immunoprecipitation assay (RIPA) lysis buffer and Triton X-100 were used to lyse HaCaT cells to obtain total proteins and cytoplasmic proteins,and Western blot was conducted to determine the expression levels of adhesion-related proteins desmoglein 3 (Dsg3) and plakoglobin (PG) on the surface of HaCaT cells,as well as the phosphorylation levels of p38 mitogen activated protein kinase (p38 MAPK) and epidermal growth factor receptor (EGFR) at different time points.Quantitative polymerase chain reaction (qPCR) was performed to detect the mRNA expressions of the above surface proteins,and coimmunoprecipitation assay to qualitatively evaluate the interaction between Dsg3 and PG.Results The number of cell debris was significantly lower in the test group than in the control group (18.67 ± 2.52 vs.46.67 ± 2.03,t =11.22,P＜0.01).Immunofluorescence assay showed that carbachol could reverse the internalization of desmosomal molecules induced by PV-IgG.In the pemphigus cell model,the levels of total Dsg3 and PG as well as non-desmosomal Dsg3 were decreased,while the level of non-desmosomal PG increased,and the interaction between Dsg3 and PG was attenuated.When the pemphigus cell model was co-cultured with carbachol,these above changes were reversed.Carbachol also increased the mRNA levels (expressed as 2-△△Ct) of Dsg3 and PG from 1.428 ± 0.215 and 1.563 ± 0.247 in the control group to 4.974 ± 0.948 (t =3.65,P =0.01) and 13.420 ± 1.715 (t =6.85,P ＜ 0.01) in the test group respectively.In phosphorylation assay,carbachol inhibited the phosphorylation of EGFR,but had no significant effect on that of p38 MAPK.Conclusions The cholinergic receptor agonist carbachol can reverse acantholysis in pemphigus,likely by inhibiting the internalization of Dsg3 and PG,enhancing their expressions and interaction,and suppressing the phosphorylation of the key signaling molecule for acantholysis,EGFR.
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El pénfigo foliáceo y el pénfigo vulgar son enfermedades autoinmunes caracterizadas por vesículas y ampollas que se rompen fácilmente dejando erosiones superficiales. Las ampollas están localizadas en diferentes sitios de la epidermis dependiendo del perfil inmunológico con el que cursen. Se reporta el caso de una paciente con presentación simultánea de pénfigo vulgar y pénfigo foliáceo, una asociación de baja incidencia con pocos casos informados en la literatura.
Pemphigus foliaceus and vulgaris are autoimmune diseases characterized by blisters that break easily leaving behind superficial erosions, with different locations in the epidermis depending on the immunologic profile with which they present. We report the case of a patient with simultaneous presentation of pemphigus vulgaris and pemphigus foliaceus, an association of low incidence with few cases reported in the literature.
O pênfigo foliáceo e o pênfigo vulgar são doenças autoimunes caracterizadas por vesicular e bolhas que se quebram facilmente deixando erosões superficiais. As bolhas ficam localizadas em diferentes regiões da epidermes dependendo do perfil imunológico. Reportamos o caso de um paciente com apresentação simultânea de pênfigo vulgar e pênfigo foliáceo, uma associação de baixa incidência com poucos casos informados na literatura.
Subject(s)
Female , Acantholysis , Blister , PemphigusABSTRACT
A doença de Grover, ou dermatose acantolítica transitória, consiste em uma dermatose papulovesiculosa pruriginosa, caracterizada histologicamente por acantólise. A maior parte dos casos está representada por homens brancos acima de 40 anos de idade. Não existeetiologia conhecida, mas o calor e o suor excessivos são descritos com frequência como fatores desencadeantes ou agravantes. O diagnóstico é feito por suspeição clínica e confirmado pela biópsia das lesões cutâneas. Neste estudo é relatado o caso de um paciente de 53 anos de idade, com doença de Grover associada à infestação por Sarcoptes scabiei.
Grover?s disease, or transient acantholytic dermatosis, consists of a papulovesicular pruritic dermatosis histologically characterized by acantholysis. Most cases are represented by white men above 40 years of age. There is no known etiology; however, heat and excessive sweating are frequently described as triggering or aggravating factors. The diagnosis is made by clinical suspicion and confirmed by biopsy of cutaneous lesions. In this study the case of a 53-year-old patient is reported with Grover?s disease associated with infestation by Sarcoptes scabiei.
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Pemphigus is an autoimmune bullous disease that involves skin and mucous membranes caused by autoantibodies against antigens on the surface of keratinocytes. We report a 30-year-old mole presenting with a five months history of pruriginous alopecic and crusted lesions in the scalp, that extended posteriorly to the trunk and limbs. Mucous membranes were not involved. A skin biopsy was performed, showing extensive loss of epidermis and acantholysis. Immuno fluorescence waspositivefor C3 and intercellular and epidermic IgG. With the presumptive diagnosis of pemphigus vulgaris (PV) without mucous involvement, thepatient was treated with prednisone, observing an excellent clinical response. There are only few cases published in the literature of PV without mucous involvement. Some authors refer to this subtype of PV as "Cutaneous pemphigus vulgaris".
Subject(s)
Adult , Humans , Male , Pemphigus/pathology , Biopsy , Glucocorticoids/therapeutic use , Pemphigus/drug therapy , Prednisone/therapeutic use , Scalp Dermatoses/drug therapy , Scalp Dermatoses/pathologyABSTRACT
Acantholysis means loss of coherence between epidermal cells due to the breakdown of intercellular bridges. It is an important pathogenetic mechanism underlying various bullous disorders, particularly the pemphigus group, as well as many non-blistering disorders. Although a well-known concept, the student often has to refer to many sources to comprehend acantholysis completely. Thorough knowledge of this topic helps in clinching many diagnoses. The etiopathogenesis, classification, clinical signs, and laboratory demonstration of acantholysis are discussed in detail to help students build clear concepts. We have focused on various distinguishing points in different disorders for an easy grasp of the topic.
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El pénfigo es una enfermedad vesículo-ampollosa autoinmune de la piel y mucosas, que puede comprometer grandes extensiones; los tipos vulgar y foliáceo son los más frecuentes, con diferencias inmunopatológicas entre ellas. El pénfigo es tratado con corticoides y Azatioprina pero en los últimos años se incluyeron nuevos medicamentos como inmunoglobulinas, Rituximab (anticuerpo monoclonal quimérico anti-CD20) entre otros, Mostramos un caso de pénfigo hiperpigmentado atípico, y revisamos el tema en especial sobre el tratamiento. Salud UIS 2012; 44 (3): 49-55.
Pemphigus is a blistering autoimmune skin and mucous disease, wich can involve large areas; vulgar and foliaceus types are the most common, with immunological differences between them. The pemphigus is treated with corticoids and azathioprine but in recent years new drugs were included as immunoglobulins, Rituximab (Chimeric monoclonal anti-CD20), among others. We show a case of atypical hyperpigmented pemphigus appearance and the review of issue, especially on treatment. Salud UIS 2012; 44 (3): 49-55.
ABSTRACT
El pénfigo vulgar y el pénfigo foliáceo son enfermedades ampollosas autoinmunes mediadas por autoanticuerpos dirigidos contra proteínas de los desmosomas, las desmogleínas 1 y 3. Están asociadas con moléculas del complejo mayor de histocompatibilidad (HLA) que por su estructura tienen la capacidad de presentar péptidos antigénicos de las desmogleínas. En los individuos afectados se han descrito la presencia de linfocitos T y B autorreactivos y alteraciones en la regulación del sistema inmune con desequilibrio de las respuestas Th1/Th2. No se conocen con precisión los mecanismos de daño pero la investigación actual indica que los anticuerpos tienen un papel patogénico, inician diferentes cascadas de señalización que provocan la acantólisis y apoptosis de los queratinocitos. El conocimiento de la inmunopatogenia de las enfermedades ampollosas autoinmunes ha permitido el desarrollo y la puesta en práctica de nuevas alternativas terapéuticas.
Pemphigus vulgaris and pemphigus foliaceus are autoimmune blistering diseases mediated by antibodies against desmosomal proteins. They are strongly associated with major histocompatibility complex alleles with the ability to present antigenic peptides of desmogleins. In the affected individuals the presence of auto-reactive T and B lymphocytes, and alterations in the immune system regulation with imbalance of the Th1/Th2 responses have been described. Damage mechanisms are not yet precisely known but current investigation indicates that antibodies play an important pathogenic role: they start different signaling cascades that lead to acantholysis and apoptosis of keratinocytes. Better knowledge of the pathogenesis of autoimmune blistering diseases has been the basis for the development and implementation of new therapeutic approaches.
Subject(s)
Humans , Acantholysis , Desmogleins , Desmosomes , Skin Diseases, Vesiculobullous , Pemphigus , Allergy and ImmunologyABSTRACT
Ectodermal dysplasia-skin fragility (EDSF) syndrome is a rare and first described inherited disorder of desmosomes. It occurs due to loss-of-function mutations in PKP1 gene resulting in poorly formed desmosomes and loss of desmosomal and epidermal integrity. We report a case of a 2-year-old Indian male child who presented with palmoplantar hyperkeratosis with fissuring, short, sparse, and easily pluckable scalp hair, nail dystrophy, and multiple erosions over the skin. Skin biopsy showed epidermal hyperplasia with widening of intercellular spaces. His developmental milestones were delayed but intelligence was normal. Echocardiography, X-ray chest, and electrocardiogram were normal. Very few cases of this syndrome have been reported in the literature. We consider this as the first case report from India.
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Benign chronic familial pemphigus (Hailey-Hailey disease) is a rare autosomal dominant blistering skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. The Hailey brothers first described it in 1939. Hailey-Hailey disease usually appears in the third or fourth decade, although it can occur at any age. Heat, sweating and friction often exacerbates the disease, and most patients have worse symptoms during summer. It is characterized clinically by a recurrent eruption of vesicles and bullae at the sites of friction and intertriginous areas. We report a 51-year-old male presenting with grey-brown hyperkeratosis with partial papillomatosis and lichenification in the axillary and inguinal areas and infiltrated erythematous lesions in the infraorbitary region, on the side of the face. Biopsies obtained from inguinal and axillar areas revealed parakeratotic crusts overlying an acantholytic epidermis. A biopsy from one of the lesions from the infraorbital area showed a Jessner-Kanof lymphocytic infiltration. The patient was treated with antimicrobials and four days later, topical Pimecrolimus was started, leading to an improvement of the clinical picture. The efficacy of Pimecrolimus in our case suggests that cellular immunity couldplay a role in thepathogenesis of Hailey-Hailey disease.
Subject(s)
Humans , Male , Middle Aged , Immunosuppressive Agents/therapeutic use , Pemphigus, Benign Familial/drug therapy , Tacrolimus/analogs & derivatives , Anti-Bacterial Agents/therapeutic use , Pemphigus, Benign Familial/pathology , Tacrolimus/therapeutic use , Treatment OutcomeABSTRACT
Se presenta el caso de una paciente de 30 años quien consultó por un cuadro de 10 mesesde evolución, consistente en una placa única eritematosa, bien definida, con una costra en su superficie y de aproximadamente un centímetro de diámetro, poco pruriginosa, en ala nasalderecha. El estudio histológico, reveló acantolisis suprabasal y la inmunofluorescencia directa fue positiva sólo para IgG intercelular. Basados en los hallazgos clínicos e histopatológicos se hace undiagnóstico de pénfigo vulgar localizado. La lesión fue tratada con esteroide tópico de alta potencia,presentándose remisión completa a las dos semanas y luego de seis meses de seguimiento no se han registrado recurrencias.
A 30 years old female patient, with 10-month history ofa single erythematous, well defined plaque, with a cruston the surface, about one centimeter in diameter, slightly pruritic, in the right nasal wing. Histologic examination reported suprabasal acantholysis and direct immunofluorescence was positive for intercellular IgG deposits. Base don clinical and histopathological findings a diagnosis of pemphigus vulgaris localized was made. The patient was treated with high potency topical steroid, with complete remission of the lesion at two weeks of treatment and had no recurrences after six months of monitoring.