Gestación gemelar en paciente con epidermolisis bullosa distrófica recesiva severa: revisión de la bibliografía en base a un caso clínico / Twin pregnancy in woman affected by severe recessive dystrophic epidermolysis bullosa: a case report and a literature review

La epidermolisis bullosa distrófica es un grupo de trastornos hereditarios de muy baja prevalencia que se caracterizan por una extrema fragilidad cutánea como consecuencia de una alteración de la cohesión de la unión epidermodérmica. Sin embargo, las manifestaciones clínicas van más allá de las lesiones cutáneas, habiéndose descrito afectación de la mayoría de aparatos y sistemas y siendo frecuente también cierto grado de desnutrición y anemia de origen multifactorial. Presentamos el caso de una paciente de 34 años, secundigesta, con epidermólisis bullosa distrófica recesiva severa, gestante gemelar bicorial y biamniótica, que seguimos durante todo el embarazo y su finalización. La baja prevalencia de la enfermedad hace que el manejo de la gestación suponga un reto para el ginecobstetra. A pesar de que los casos publicados hacen creer que la gestación no modifica el curso natural de la enfermedad, lo cierto es que se recomienda que el embarazo sea seguido por un equipo multidisciplinar. Existen publicados casos en los que se finaliza la gestación por vía vaginal, sin embargo, no existe evidencia suficiente para considerar ésta como la vía de elección.

Dystrophic epidermolysis bullosa is a group of hereditary disorders that has very low prevalence. It is characterized by an extreme cutaneous fragility as a consequence of a cohesion alteration of the epidermis and dermis junction. However, the clinical manifestations also affect other systems and organs, being able to cause malnutrition and anemia. We present the case of a 34-year-old woman affected by severe recessive dystrophic epidermolysis bullosa, with a bichorial and biamniotic twin pregnancy, whom we have followed throughout the pregnancy. The low prevalence of this disease makes the management of the pregnancy a challenge for the obstetrician. Although the published cases suggest that gestation does not modify the natural course of the disease, it is recommended that these pregnancies are monitored by a multidisciplinary team. Some published cases describe vaginal delivery. Nevertheless, it is not clear that this should be the first choice.

Generalized Eruptive Diabetic Dermopathy: A Rare Clinical Manifestation / 대한피부과학회지

No abstract available.

Caracterización clínica del loxoscelismo dermonecrótico en equinos de córdoba, colombia / Clinical characterization of dermonecrotic loxoscelism in equine of Córdoba, Colombia / Caracterização clínica da loxoscelismo dermonecrótica em equinos de Córdoba, Colômbia

Resumen El objetivo de este estudio fue evaluar las características clínicas del loxoscelismo dermonecrótico (LDN) en equinos del departamento de Córdoba, Colombia. El estudio, fue de tipo descriptivo, no probabilístico, las muestra fueron seleccionadas por conveniencia. Se utilizaron nueve caballos criollos (Equus ferus caballus) y dos burros (Equus asinus africanus) con LDN diagnosticados clínica e histopatológicamente en diferentes producciones del Departamento. Al describir las lesiones cutáneas, éstas se caracterizaron por la presencia de una severa dermatitis necrótica, con edema y un área eritematosa focal, al detallar el área lesionada, se observó un punto necrótico central y dos halos alrededor (un halo blanco medial y un halo violáceo más externo) en la mayoría de los casos estudiados; así como ausencia de signos neurológicos y sistémicos. Las lesiones se ubicaron en la mayoría de los casos a nivel dorsal, seguido de la región rostral, pecho y pene. Histopatológicamente en la coloración de Hematoxilina Eosina (H&E), se observó severa dermatitis piogranulomatosa, con marcada infiltración de polimorfonucleares especialmente neutrófilos, con vacuolización de la capa basal de la epidermis y edema en la unión dermo-epidérmica. El diagnóstico definitivo de LDN en los 11 animales estudiados, se fundamentó en las manifestaciones clínicas observadas, las características anatomopatológicas de las lesiones y los resultados histopatológicos. El presente informe constituye el primer reporte de LDN en el Departamento de Córdoba, ya que no se encontraron reportes en la literatura consultada.

Abstract The aim of this study was to characterize the clinical aspects of dermonecrotic loxoscelism (LDN) in horses department of Cordoba, Colombia. This study was descriptive, not probabilistic, in animals of convenience. Nine horses (Equus ferus caballus) and 2 donkeys (Equus asinus africanus) were used with LDN diagnosed clinically and histopathologically in different productions of the Department. When describing the skin lesions, these were characterized by the presence of severe necrotic dermatitis, with edema and a focal erythematous area, when detailing the injured area, a central necrotic spot and two halos around it (a medial white halo and a halo Violet) in most of the cases studied; As well as absence of neurological and systemic signs. The lesions were located in most cases at the dorsal level, followed by the rostral region, chest and penis. Histopathologically in the staining of Hematoxylin Eosin (H & E), severe piogranulomatous dermatitis was observed, with marked infiltration of polymorphonuclear cells especially neutrophils, with vacuolization of the basal layer of the epidermis and edema in the dermo-epidermal junction. The definitive diagnosis of LDN in the 11 animals studied was based on the clinical manifestations observed, the anatomopathological characteristics of the lesions and the histopathological results. The present report constitutes the first LDN report in the Department of Córdoba, since no reports were found in the consulted literature.

Resumo O objetivo deste estudo foi caracterizar os aspectos clínicos da loxoscelismo dermonecrótica (LDN) em equinos de Córdoba, Colômbia. Este estudo foi descritivo, não probabilístico, em animais de conveniência. Foram usados 9 cavalos (Equus ferus caballus) e 2 jumentos (Equus asinus africanus) com LDN clinicamente e histologicamente diagnosticado no Departamento diferentes produções. Ao descrever as lesões da pele, que foram caracterizados pela presença de dermatite necrotizante grave, edema e focal área eritematosa, detalhando a área lesionada, um ponto necrótico central e dois halos foram observados em torno de (halo branco medial e halo mais exterior) violáceo, na maioria dos casos estudados; e ausência de sinais neurológicos e sistémicas. As lesões foram localizados na maioria dos casos ao nível dorsal, seguida da rostral, peito e do pénis. Foi observada histologicamente em hematoxilina-eosina (H & E), dermatite piogranulomatosa grave, com infiltração acentuada de neutrófilos polimorfonucleares especialmente com vacuolização da camada basal da epiderme e edema na junção dermo-epidérmica. O diagnóstico definitivo da LDN nos 11 animais estudados foi baseado nas manifestações clínicas observadas, características histopatológicas de lesões e os resultados histopatológicos. O presente relatório constitui o primeiro relatório LDN no Departamento de Córdoba, uma vez que não foram encontrados relatórios na literatura consultada.

Clinical, histological and histochemical description of equine pemphigus foliaceus: a case report / Descripción clínica, histológica e histoquímica del pénfigo foliáceo equino: un reporte de caso / Descriçã o clínica, histológica e histoquímica pênfigo foliáceo eqüinos: relato do caso

The aim of this study was to describe the clinical, gross and microscopic lesions as diagnostic methods pemphigus foliaceus (PF) in an imported horse Silla Argentino, castrated male, 9 years old from the municipality of Montería (Córdoba, Colombia). In describing the clinical case, the presence of scabs generalized mainly at the level of the chest and abdomen, initially presented ventral edema and some areas had pustules and vesicles, as well as fever and marked pruritus was observed. The lesions were located bilaterally at the level of face, thoracic region, abdominal, gluteal and limbs. Histopathological in the HE stain, was observed the presence of acantholytic keratinocytes and areas acantholytic sloughing in the granular layer, hyperplasia and epidermal desquamation; areas subepidermal spongiosis and various subcorneal pustules characterized by the presence of intact neutrophils and degenerate and dermal edema hyalinization moderate collagen, likewise in TG staining, poor dermal collagen proliferation disorganized with little presence of diffuse connective tissue was observed, while in the PR/P staining, areas of red birefringence was observed, indicating moderate presence of mature type I collagen (red bright polarization). The diagnosis was based on clinical signs, histopathological findings, differential diagnosis and response to medical treatment. In the literature there are no reports of PF in the Department, so it is the first report of this disease in horses of Córdoba.

El objetivo de este estudio fue describir las manifestaciones clínicas, lesiones macro y microscópicas como métodos de diagnóstico del pénfigo foliáceo (PF) en un caballo importado Silla Argentino, macho entero, de 9 años de edad, procedente del municipio de Montería (Córdoba, Colombia). Al describir el caso clínico, se observó presencia de costras generalizadas principalmente a nivel de tórax y abdomen, inicialmente presentó edema ventral y algunas zonas presentaron pústulas y vesículas, así como fiebre y prurito marcado. Las lesiones se ubicaron en forma bilateral, a nivel de rostro, región torácica, abdominal, glútea y extremidades. Histopatológicamente en la coloración de HE, se observó la presencia de queratinocitos acantolíticos y áreas de esfacelación acantolítica en la capa granulosa, Hiperplasia y descamación epidérmica, áreas de espongiosis subepidérmica y diversas pústulas subcórneas caracterizadas por la presencia de neutrófilos íntegros y degenerados y edema dérmico con moderada hialinización del colágeno, así mismo en la tinción de T-G, se observó escasa proliferación dérmica de colágeno desorganizados con escasa presencia de tejido conjuntivo difuso, mientras que en la tinción de P-R/P, se observó áreas de birrefringencia rojiza, indicando moderada presencia de colágeno maduro tipo I (color rojo brillante en la polarización). El diagnóstico se fundamentó en los signos clínicos, hallazgos histopatológicos, diagnóstico diferencial y respuesta al tratamiento médico. En la literatura consultada no existen reportes de PF en el Departamento, por lo que es el primer reporte de esta enfermedad en caballos de Córdoba.

O objetivo deste estudo foi descrever as lesões clínicas, macroscópicas e microscópicas como métodos de diagnóstico do pénfigo foliaceo (PF) num cavalo importado Argentino, macho, de 9 anos de idade do município de Montería (Córdoba, Colô mbia). Ao descrever o caso clínico, observou-se a presença de crostas generalizadas, principalmente ao nível do tórax e do abdómen, inicialmente apresentaram edema ventral e algumas áreas tinham pústulas e vesículas, bem como febre e prurido marcado. As lesões eram localizadas bilateralmente, a altura da face, regiã o torácica, abdominal, glúteos e membros. Foi observada na histopatologia na coloraçã o de HE, a presença de queratinócitos acantolíticos e áreas de descamaçã o acantolíticas na camada granular, hiperplasia e descamaçã o da epiderme, áreas de espongiose subepidermal e várias pústulas subcórneas caracterizados pela presença de neutrófilos intactos e degenerados, edema dérmico moderado e hialinizaçã o de colágeno, também na coloraçã o T-G, observou-se pobre proliferaçã o de colágeno dérmico desorganizado com pouca presença de tecido conjuntivo difuso, enquanto na coloraçã o de PR/P, observou-se a presença de áreas de birrefringência avermelhada, indicando presença moderada de colágeno tipo I maduro (vermelho brilhante na polarizaçã o). O diagnóstico foi baseado nos sinais clínicos, achados histopatológicos, diagnóstico diferencial e resposta ao tratamento médico. Na literatura nã o há relatos de PF no Departamento, por isso é o primeiro relato da doença em cavalos de Córdoba.

Protective effect of hydrogen sulfide on renal injury in the experimental unilateral ureteral obstruction

Introduction/Objective: Ureteral obstruction is a common pathology and causes kidney fibrosis and dysfunction at late period. In this present study, we investigated the antifibrotic and antiinflammatory effects of hydrogen sulfide on kidney damage after unilateral ureteral obstruction (UUO) in rats. Materials and Methods: 24 rats were divided into four groups. Group 1 was control, group 2 was sham, group 3 included rats with UUO and group 4 rats with UUO which were given sodium hydrogen sulfide (NaHS)-exogenous donor of hydrogen sulfide (intraperitoneally 56μmoL/kg/day). After 14 days, rats were killed and their kidneys were taken and blood analysis was performed. Tubular necrosis, mononuclear cell infiltration and interstitial fibrosis were determined histopathologically in a part of the kidneys; nitric oxide (NO), malondialdehyde (MDA) and reduced glutathione (GSH) levels were determined in the other part of the kidneys. Urea-creatinine levels were investigated by blood analysis. Statistical analyses were made by the Chi-square test and one-way analysis of variance (ANOVA). Results: There was no significantly difference for urea-creatinine levels among groups. Pathologically, there was serious tubular necrosis and fibrosis in group 3 and there was significantly decreasing of tubular necrosis and fibrosis in group 4 (p<0.005). Also, there was significantly increase of NO and MDA levels and decrease of GSH levels in group 3 compared to other groups (p<0.005). Conclusions: hydrogen sulfide prevents kidney damage with antioxidant and antiinflammatory effect.

Análisis de costo efectividad del ácido gadotérico frente a otros medios de contraste basados en gadolinio / Analysis of Cost Effectiveness of Gadoteric Acid versus Other Contrast Agents Gadolinium-Based

Objetivo: Hacer una análisis de costo-efectividad en el uso del ácido gadotérico en resonancia magnética para pacientes con insuficiencia renal crónica tipo 4 y 5, en comparación con otros medios de contraste gadolínicos. Métodos: Mediante un modelo de árbol de decisión, desde la perspectiva del tercero pagador, se compararon diferentes medios de contraste gadolínicos. El desenlace de análisis fue sobrevida medida en años de vida ganados, para una esperanza de vida de 64,5 años y una edad promedio de 60 años. Se manejaron los precios del mercado obtenidos del Sistema de Información de Precios de Medicamentos, en pesos colombianos de 2013. Se evaluó el costo de las tecnologías para una presentación de 15 ml. Resultado: La efectividad de medios de contraste se evaluó en términos de seguridad. La principal complicación se encontró en la fibrosis sistémica nefrogénica luego del uso de estos medios de contraste en pacientes con enfermedad renal avanzada, siendo letal en más del 56 % de los casos. Se encontró que no se informan casos de fibrosis sistémica nefrogénica con el uso de ácido gadotérico y de gadobutrol. El primero mostró un promedio de años de vida de 1,706 y fue el menos costoso de todos. En el análisis tipo Montecarlo con variaciones de ±50 %, mantiene su dominancia en el 100 % de las iteraciones. Conclusiones: El ácido gadotérico es la opción más favorable por su dominancia y mejor o igual en efectividad frente a los demás medios de contraste gadolínicos.

Objective: To evaluate the cost - effectiveness of the use of gadoteric acid in magnetic resonance in patients with type 4 and 5 chronic renal failure, versus other gadolinic contrast media methods. Methods: From the perspective of a third party payer, different gadolinic contrast media were compared using a decision tree model. The analysis outcome was survival measured in years of life gained, for a life expectancy of 64.5 years an average age of 60 years. Market prices obtained from the Information System on Drug Prices for Colombia were handled in Colombian pesos (2013). The technology costs for a 15 ml presentation were evaluated. Result: The effectiveness of contrast media was assessed in terms of security. The main complication was nephrogenic systemic fibrosis in the use of these contrast media in patients with advanced renal disease. It was lethal in over 56% of cases. We found no cases of nephrogenic systemic fibrosis reported using gadoteric acid and gadobutrol. The first showed an average life of 1,706 years; and was the least expensive compared to all the analyzed ones. In the Monte Carlo analysis with variations of + / -50 %, it maintains its dominance in 100% of iterations. Conclusions: Gadoteric acid is the most favorable option due to its dominance. Its effectiveness is greater than or equal to the effectiveness of other contrast media.

Fibrosis sistémica nefrogénica: la pandemia que no fue / Causal relationship between the use of gadolinium based contrast media and nephrogenic systemic fibrosis

Nephrogenic systemic fibrosis (NSF) is a severe iatrogenic disease that affect patients with impaired renal function exposed to gadolinium-based contrast agents. Clinically, symptoms develop within days or weeks after the exposure and mimic a scleromyxedema. The causal relationship between use of gadolinium-based contrast agents and NSF led to develop clinical guidelines aiming to limit the use of this contrast medium in high risk patients. These guidelines decreased the incidence of NSF in the last years. Unfortunately there is no specific treatment for NSF yet. Thus, strict adherence to current guidelines is key to prevent new cases. Renal dysfunction is increasingly common in our population. Therefore, practicing physicians should be aware of this potential complication of the use of gadolinium based contrast media.

The value of diabetic dermopathy screening for diabetic nephropathy / 中国医师进修杂志

Objective To explore the related risk factors for diabetic nephropathy(DN) and discuss the value of diabetic dermopathy (DD) screening for DN.Methods A total of 188 patients with type 2 diabetes mellitus (T2DM) were studied,which included 78 patients with DN (DN group) and 110 cases without DN (non-DN group).The sex,age,duration of diabetes mellitus,smoking,DD,body mass index (BMI),systolic blood pressure (SBP),diastolic blood pressure (DBP),fasting blood glucose (FBG),2hours postpradial glucose(2 h PG),triglyceride (TG),total cholesterol (TC),glycosylated hemoglobin A1c (HbA1c),fasting C-peptide(FC-P) were recorded.Multiple factor Logistic regression was applied in patients with DN and non-DN.Results The incidence of DD and DN in T2DM patients was 47.34％(89/188) and 41.49％ (78/188) respectively.The ratio of DD in DN group was 79.49％(62/78),in non-DN group was 24.55％ (27/110),and the difference was significant (P ＜ 0.05).The age,duration of diabetes mellitus,SBP,FBG,2 h PG,HbA1c in DN group was higher than that in non-DN group [(52.83 ± 6.43) years old vs.(50.35 ±6.48) years old,(10.51 ±4.36) years vs.(6.48 ±3.25) years,(137.42 ± 14.17) mmHg(1mmHg =0.133 kPa) vs.(132.57 ± 15.38) mmHg,(11.95 ±2.83) mmol/L vs.(10.28 ± 1.98) mmol/L,(15.07 ± 3.16) mmol/L vs.(13.51 ± 2.75) mmol/L,(9.62±2.17)％ vs.(8.63 ± 2.08) ％],FC-P was lower than that in non-DN group [(1.76 ± 0.89) μ g/L vs.(2.01 ± 0.72) μ g/L],and the difference was significant (P ＜ 0.05).Multiple factor Logistic regression analysis showed that duration of diabetes mellitus,DD and FPG were still related to DN in T2DM (OR =4.841,3.209,3.368,P ＜0.01).Conclusions DD is correlated with DN in T2DM.DN should be screened in T2DM patients with DD.

Nephrogenic systemic fibrosis: concepts and perspectives / Fibrose nefrogênica sistêmica: conceitos e perspectivas

Nephrogenic systemic fibrosis is a chronic, progressive condition that develops in some patients with renal impairment after exposure to gadolinium-based contrast agents used in magnetic resonance imaging. Thickening of the skin is typical, usually affecting the extremities. Visceral organs can also be affected. The diagnosis of the disease requires careful clinicopathological correlation. Treatment aims at restoring renal function, which is associated with delayed progression and, eventually, remission of skin changes. Reduction and prevention of nephrogenic systemic fibrosis cases are based on limiting the use of gadolinium-based contrast agents in patients with kidney disorders (especially in patients with advanced renal failure at stages 4 and 5), and restricting their use to situations in which they are essential to diagnosis/follow-up. Other than limiting exposure to gadolinium based contrast agents, no effective preventive methods have been reported. Due to increased awareness about the disease among radiologists and nephrologists, the incidence of nephrogenic systemic fibrosis is declining.

Fibrose nefrogênica sistêmica é condição crônica, progressiva, desenvolvida caracteristicamente em pacientes nefropatas após exposição a contrastes radiológicos que contenham gadolínio. O espessamento cutâneo é aspecto típico, envolvendo predominantemente as extremidades. Envolvimento visceral pode ocorrer. O diagnóstico da doença requer cuidadosa correlação clínico-patológica. O tratamento visa à restauração da função renal, que se associa ao retardo da progressão e, eventualmente, remissão das alterações cutâneas. A prevenção da ocorrência e redução da incidência baseiam-se na limitação do uso de contrastes à base de gadolínio em nefropatas (especialmente na insuficiência renal avançada em estágios 4 e 5), restringindo-os às condições nas quais seja imprescindível ao diagnóstico/acompanhamento. À exceção da restrição de exposição aos agentes de contraste a base de gadolínio, não há métodos preventivos efetivos relatados. Devido à ampla divulgação da doença entre radiologistas e nefrologistas, a incidência da fibrose nefrogênica sistêmica está em declínio.

Manifestações cutâneas na doença renal terminal / Cutaneous manifestations in end-stage renal disease

A prevalência da doença renal crônica aumentou nos últimos anos. Os efeitos dessa doença são complexos e podem levar à disfunção de múltiplos órgãos, entre eles, a pele. A maioria dos pacientes apresenta pelo menos uma alteração dermatológica. Algumas vezes, esses sintomas podem ser o primeiro sinal evidente de doença renal. Este artigo aborda as manifestações cutâneas relacionadas a disfunção renal grave ou doença renal terminal, divididas em não específicas e específicas, revisando quadro clínico, etiopatogenia e opções terapêuticas dessas dermatoses. Seu reconhecimento e trata mento precoces diminuem a morbidade, melhorando a qualidade de vida desses doentes.

The prevalence of chronic kidney disease has increased over the last years. The effects of this disease are complex and may lead to dysfunction of multiple organs, including the skin, with most patients presenting with at least one dermatologic alteration. Sometimes these symptoms can be the first clear sign of kidney disease. This article discusses the skin manifestations related to severe renal impairment or end-stage renal disease (ESRD), which are divided into nonspecific and specific, and reviews the clinical features, etiopathogenesis and therapeutic options for these dermatoses. Early recognition and treatment reduce morbidity and improve these patients' quality of life.

Nephrogenic Fibrosing Dermopathy Improved after Renal Transplantation / 대한피부과학회지

Nephrogenic fibrosing dermopathy (NFD) is a rare cutaneous fibrosing disorder that primarily affects patients with a history of renal disease. NFD manifests with induration, thickening and hardening of the skin with brawny hyperpigmentation. Lesions are typically symmetrical and usually develop on the limbs and trunk. Flexion contractures of the joints may be a feature of the disease. Histopathological features of NFD include proliferation of dermal fibroblasts and dendritic cells, thickened collagen bundles, increased elastic fibers and focal mucin deposition. Although the pathogenesis remains largely unknown, some of the factors implicated in the pathogenesis include renal dysfunction, circulating fibrocytes, vascular injury, and gadolinium which is a contrast material used in magnetic resonance imaging. Currently, no definitive or uniformly effective therapies are available for the treatment of NFD. We herein describe the case of a 44-year-old female NFD patient who undergoes significant improvement of skin lesions and associated joint contracture after renal transplantation.

Fibrose sistêmica nefrogênica: uma complicação grave do uso do gadolínio em pacientes com insuficiência renal / Nephrogenic systemic fibrosis: a severe complication of use to gadolinium in patients with kidney failure

Fibrose sistêmica nefrogênica (FSN), também conhecida como dermopatia fibrosante nefrogênica (DFN), é uma condição que ocorre apenas em pacientes com disfunção renal. Além das lesões cutâneas, esta síndrome inclui fibrose de músculo esquelético, articulações, fígado, pulmão e coração e pode ser fatal. Esta doença foi primeiramente descrita em 1997 e vários estudos descrevem a relação etiológica da FSN com a exposição a agentes de contraste contendo gadolínio, usado em exames de ressonância magnética. Esta revisão tem como objetivo alertar médicos clínicos e nefrologistas sobre essa nova patologia que acomete pacientes com alteração da função renal, demonstrando aspectos demográficos e epidemiológicos, apresentação clínica, diagnóstico e prognóstico além das opções de prevenção e terapêuticas atuais. Concluímos que todo paciente apresentando creatinina sérica elevada deve ter sua função renal (clearance de creatinina) estimada, visando a segurança na realização da ressonância magnética.

Nephrogenic systemic fibrosis (NSF), also known as nephrogenic fibrosing dermopathy (NFD), is a condition that has occurred only in patients with renal insufficiency. Besides lesions of the skin, this syndrome include fibrosis of skeletal muscle, joints, liver, lung, and heart, with possible fatal outcomes. This disease was first described in 1997 and several reports described the development of NSF after the exposure to gadolinium-based magnetic resonance imaging contrast agents. This review aims to alert physicians and nephrologists about this new pathology that affects patients with renal dysfunction, describing its demographic and epidemiologics aspects, clinic presentation, diagnosis and prognosis, beyond options to prevent and current treatment. We concluded that in all patient with elevated serum creatinine physicians should estimade his kidney function (creatinine clearence) in order to safety of magnetic resonance.

A Case of Graves' Disease Showing a Triad of Ophthalmopathy, Pretibial Myxedema and Thyroid Acropachy / 대한피부과학회지

Graves' disease is an autoimmune disorder of the thyroid gland and the most common cause of hyperthyroidism. Classic clinical findings include ophthalmopathy (exophthalmos), dermopathy (pretibial myxedema) and thyroid acropachy. The triad of Graves' clinical findings occurs in less than 1% of Graves' patients. We present a case of Graves' disease with the clinical triad of exophthalmos, pretibial myxedema, and thyroid acropachy.

A case of restrictive dermopathy / 소아과

Restrictive dermopathy is a rare autosomal recessive disorder in which rigidity or tautness of the skin from the second trimester causes a fetal akinesia deformation sequence (FADS) and early death. Characteristic features include taut skin with prominent subcutaneous vessels, widely open fontanelles and cranial sutures, distinctive facies, flexion contractures, pulmonary hypoplasia, sparse eyelashes and and eyebrows, thin dysplastic clavicles. The histologic abnormalities of the skin are located in a thin dermis, consisting of compactly arranged collagen fibers, scanty elastic fiber. The dermoepidermal junction is flat, and epidermal appendages are absent, miniaturized or immature. The presence of adipose tissue may be increased. We report on the first Korean case of restrictive dermopathy with typical clinical features and histological findings.

A Case of Restrictive Dermopathy

Restrictive dermopathy is a lethal, autosomal recessive disorder characterized by tautness of skin, multiple joint contractures, and respiratory insufficiency resulting in fetal akinesia and death during the neonatal period. Histologic findings show a flat dermoepidermal junction, overall thinned dermis with hypoplastic appendages, a dense fibrotic reticular dermis with collagen parallel to the epidermis, and a thick layer of subcutaneous adipose tissue. It is a rare disorder that has not yet been reported in the Korean literature. Herein, we present a case of restrictive dermopathy in a neonate.