Diagnóstico prenatal de ictiosis arlequín. Comunicación de caso

La ictiosis arlequín, también conocida como queratosis difusa fetal, es un trastorno cutáneo hereditario, extremadamente raro y grave desde el punto de vista fenotípico, con herencia autosómica recesiva. La enfermedad es causada por mutaciones en el gen de la proteína transportadora de casetes de unión a trifosfato de adenosina (ABCA12). La ecografía prenatal y el análisis genético son importantes para el diagnóstico prenatal. El diagnóstico ecográfico prenatal es difícil y los hallazgos incluyen placas de ectropión, pabellón auricular anormal, nariz plana, piel engrosada con apariencia de armadura, labios engrosados con estado sostenido de boca abierta (boca de pez) y fijación en flexión de las extremidades. Estas generalmente son encontradas durante el tercer trimestre. La ecografía tridimensional contribuye a la evaluación de la morfología facial. El pronóstico es generalmente desfavorable. Los neonatos afectados no suelen sobrevivir más allá de los primeros días de vida. Se presenta un caso de diagnóstico prenatal de ictiosis arlequín.

Harlequin ichthyosis, also known as diffuse fetal keratosis, is an extremely rare and phenotypically severe hereditary skin disorder with autosomal recessive inheritance. This disease is caused by mutations in the adenosine triphosphate-binding cassette transporter protein (ABCA12) gene. Prenatal ultrasonography and genetic analysis are important for prenatal diagnosis. Prenatal ultrasonographic diagnosis is difficult, and findings include ectropion plates, an abnormal auricular pinna, a flat nose, thickened skin with an armor-like appearance, thickened lips with sustained open mouth (fish mouth) status, and flexion fixation of the extremities. These are usually found during the third trimester. Three-dimensional ultrasonography contributes to the evaluation of facial morphology. The prognosis is generally poor. Affected neonates usually do not survive beyond the first days of life. A case of prenatal diagnosis of harlequin ichthyosis is presented.

Harlequin color change in a newborn who was positive for COVID-19: report of a case

Harlequin color change is a benign, idiopathic, self-limiting disorder characterized by the appearance of skin divided into two distinctly colored areas. Its etiology is unknown but thought to be caused by immaturity of hypothalamic regulation of peripheral vascular tone. COVID-19 infection in neonates is infrequent and rarely symptomatic, with only a few cases described in the literature. In isolation, both conditions have a low incidence. It is the first case reported in the world literature of harlequin color change in a newborn who tested positive for COVID-19. There isn't a single publication that links harlequin color change to COVID-19.

El cambio de color arlequín es un trastorno benigno, idiopático y autolimitado que se caracteriza por una apariencia de la piel dividida en dos zonas de color distinto. Su etiología es desconocida, pero se cree que está causada por una inmadurez hipotalámica del tono vascular periférico. La infección por COVID-19 en neonatos es infrecuente y raramente sintomática, con sólo unos pocos casos descritos en la literatura. De forma aislada, ambas afecciones tienen una baja incidencia. Este es el primer caso descrito en la literatura mundial de cambio de coloración arlequín en un recién nacido que dio positivo a COVID-19. Aun no existe ninguna publicación que relacione el cambio de color arlequín con COVID-19.

Ictiosis arlequín en un neonato / Arlekin ichthyosis in a newborn baby

Se describe el caso clínico de un neonato, producto de parto eutócico, a término y normopeso, asistido en el Hospital Distrital de Barrillas, perteneciente a la zona rural del Departamento Huehuetenango en Guatemala, que al nacer presentó escamas grandes y gruesas diseminadas en la piel, así como eversión de párpados y labios. Se le diagnosticó ictiosis arlequín, por lo que se mantuvo ingresado en la Unidad de Cuidados Neonatales de dicho centro. La evolución fue desfavorable, con persistencia de complicaciones, tales como sepsis grave y alteraciones hidroelectrolíticas, a pesar del tratamiento médico, por lo que falleció a los 6 días de nacido e igual período de hospitalización.

The case report of a newborn baby, product of an eutocic childbirth, at term and normal weight, is described. He was assisted in Barrillas Distrital Hospital, belonging to the rural area of the Huehuetenango Department in Guatemala due to big and thick flakes disseminated in the skin when being born, as well as eversion of eyelids and lips. Arlekin ichthyosis was diagnosed, reason why he was admitted to the Neonates Care Unit of this center. The clinical course was unfavorable, with persistence of complications, such as serious sepsis and hydroelectrolitic disorders, in spite of the medical treatment, reason why he died after 6 days of being born and same period of hospitalization.

Investigation of the Fatigue Stress of Orthotropic Steel Decks Based on an Arch Bridge with the Application of the Arlequin Method.

Orthotropic steel decks are widely used in the construction of steel bridges. Although there are many fatigue-evaluation methods stipulated by codes, unexpected fatigue cracks are still detected in some bridges. To justify whether the local finite element model commonly used in fatigue investigations on orthotropic decks can correctly instruct engineering practices, the Arlequin framework is applied in this paper to determine the full fatigue stress under traffic loads. The convergence on and validity of this application for orthotropic decks are checked. Results show that the Arlequin model for deck-fatigue analysis established in this paper tends to be an efficient method for complete fatigue stress acquisition, whereby the vulnerable sites of orthotropic steel decks under traffic loads are defined. Vehicles near the flexible components, such as hangers or cables, can have adverse effects on the fatigue durability of decks. Additionally, the total number of vehicles and their arrangement concentration also affect fatigue performance. Complex traffic conditions cannot be fully loaded in local models. Regardless of the gross bridge mechanics and deck deformation, the fatigue stress range is underestimated by about 30-40%. Such a difference in fatigue assessment seems to explain the premature cracks observed in orthotropic steel decks.

Harlequin syndrome: a case report / Síndrome de arlequín: reporte de un caso

El síndrome de Arlequín es una condición neurológica poco común, la mayoría de las veces benigna. Por lo general la mayor parte de los casos son de causa idiopática (aunque existen causas secundarias). Esta afección consiste en la aparición de eritema e hiperhidrosis facial unilateral desencadenado por el ejercicio, calor, emociones o estrés, la que se produce debido a una disfunción contralateral de la vía simpática vasodilatadora y sudomotora. Se presenta el caso de un paciente de sexo masculino de 49 años, que relata presentar un cuadro de 15 años de evolución caracterizado por la aparición de eritema y sudoración excesiva de la hemicara derecha, la cual termina abruptamente en la línea media de la cara, gatillado por el ejercicio y el calor en verano, mientras que la hemicara izquierda presenta anhidrosis sin eritema.

The Harlequin syndrome is a rare neurological condition, most of the time benign. In general, most cases are idiopathic (although there are secondary causes). This condition consists in the appearance of unilateral facial erythema and hyperhidrosis triggered by exercise, heat, emotions or stress, which occurs due to a contralateral dysfunction of the sympathetic vasodilator and sudomotor pathway. We present the case of a 49-year-old male patient, with no relevant morbid history, who reports a medical history of 15 years of evolution, characterized by the appearance of erythema and excessive sweating of the right side of his face, which ends abruptly in the middle line of the face, triggered by exercise and heat during the summer. While the left side presents anhidrosis without erythema.

Ictiosis arlequín: presentación de un caso / Harlequin ichthyosis: presentation of a case

RESUMEN Las genodermatosis ictiosiformes constituyen un grupo heterogéneo de trastornos de la cornificación caracterizados por hiperqueratosis y descamación de la piel. La ictiosis arlequín es la forma más grave y agresiva de las ictiosis congénitas, presenta una baja prevalencia (1/300 000 nacimientos) con expresividad clínica variable, una evolución desfavorable y pronóstico reservado. Se presenta con un patrón autosómico recesivo y su diagnóstico prenatal es aún difícil. Se presentó el caso de un recién nacido masculino pretérmino de 34 semanas gestacionales, sin historia familiar de trastornos de piel, con un cuadro característico de ictiosis arlequín, quien falleció a los 11 días de vida. Se realizó la caracterización clínica y anatomopatológica de la enfermedad y se ofrece una revisión sobre esta rara entidad (AU).

ABSTRACT Ichthyosiform genodermatoses are a heterogeneous group of cornification disorders characterized by hyperkeratosis and skin flaking. Harlequin ichthyosis is the most aggressive and serious form of congenital ichthyoses, presenting a low prevalence (1/300 000 births), with variable clinical expressivity, an unfavorable evolution and reserved prognosis. It appears with an autosomal recessive pattern and its prenatal diagnosis is still difficult. The authors present the case of a male preterm newborn, of 34 gestational weeks, without family history of skin disorders, and clinical characteristics of Harlequin ichthyosis, who died at the 11 day of birth. The disease clinical and anatomopathologic characterization was carried out and a review of this rare entity is made (AU).

WATER-BUG (Abedus SP.; BELOSTOMATIDAE) PREDATION ON THE CRITICALLY ENDANGERED Atelopus varius (BUFONIDAE) AT LAS TABLAS PROTECTED ZONE, COSTA RICA / Depredación por el Chinche de Agua (Abedus sp.; Belostomatidae) sobre el Críticamente Amenazado Atelopus varius (Bufonidae) en la Zona Protectora Las Tablas, Costa Rica

ABSTRACT Atelopus varius was believed to be extinct in Costa Rica until the rediscovery of a population within the Las Tablas Protected Zone (LTPZ) in 2008. This rediscovery represented a research and conservation opportunity, including contributing new information about the species' natural history. There are few reported species that prey on A. varius. This report presents a new predation record by a species of water bug (Abedus spp.) on an adult harlequin frog (A. varius). This is only the second confirmed predator for the species. These water bugs have been reported to prey on anurans during reproductive seasons, but in this case, the event occurred on A. varius out of their reproductive season. The effects of water bug predation on the only known reproductive population of this Critically Endangered species needs to be assessed to consider appropriate conservation measures to prevent further decline of the species.

RESUMEN Atelopus varius se consideró extinto en Costa Rica, hasta el redescubrimiento de una población en la Zona Protectora Las Tablas (ZPLT). Este hallazgo representa una oportunidad de investigación y conservación, incluyendo contribuir nueva información acerca de la historia natural de la especie. Hay pocas especies reportadas que depredan A. varius. Este reporte presenta un registro de depredación del chinche de agua (Abedus spp.), sobre un adulto de Sapo Arlequín (A. varius), como el segundo depredador confirmado de la especie. Usualmente, los chinches de agua depredan anuros durante su época reproductiva, pero este evento ocurrió fuera de la época reproductiva de A. varius. Los efectos de la depredación de chinches acuáticos sobre la única población reproductiva conocida de esta especie Críticamente Amenazada necesitan ser evaluados para considerar acciones de conservación.

Alq mutation increases fruit set rate and allows the maintenance of fruit yield under moderate saline conditions.

Arlequin (Alq) is a gain-of-function mutant whose most relevant feature is that sepals are able to become fruit-like organs due to the ectopic expression of the ALQ-TAGL1 gene. The role of this gene in tomato fruit ripening was previously demonstrated. To discover new functional roles for ALQ-TAGL1, and most particularly its involvement in the fruit set process, a detailed characterization of Alq yield-related traits was performed. Under standard conditions, the Alq mutant showed a much higher fruit set rate than the wild type. A significant percentage of Alq fruits were seedless. The results showed that pollination-independent fruit set in Alq is due to early transition from flower to fruit. Analysis of endogenous hormones in Alq suggests that increased content of cytokinins and decreased level of abscisic acid may account for precocious fruit set. Comparative expression analysis showed relevant changes of several genes involved in cell division, gibberellin metabolism, and the auxin signalling pathway. Since pollination-independent fruit set may be a very useful strategy for maintaining fruit production under adverse conditions, fruit set and yield in Alq plants under moderate salinity were assessed. Interestingly, Alq mutant plants showed a high yield under saline conditions, similar to that of Alq and the wild type under unstressed conditions.

Ictiosis arlequín, una genodermatosis devastadora / Harlequin Ichthyosis, a devastating genodermatosis

La ictiosis arlequín es la forma más grave y agresiva de las ictiosis congénitas. Es una rara entidad hereditaria, de patrón autosómico recesivo y su pronóstico es fatal en la mayoría de los casos; los neonatos por lo general mueren en los primeros días de vida por infección o deshidratación entre otras complicaciones. El diagnóstico prenatal sigue siendo difícil y el manejo adecuado podría aumentar la supervivencia. Presentamos a neonata con ictiosis arlequín nacida de madre con antecedente de feto arlequín.

Harlequin ichthyosis is the most severe and aggressive presentation of congenital ichthyosis. It is an extremely rare autosomal recessive genetic disorder with a fatal outcome in most cases; harlequin infants usually die in the first few days of life secondary to infection and dehydration among other complications. Prenatal diagnosis remains difficult and adequate care may enhance survival. We report a female harlequin infant born to a mother with a history of harlequin fetus.

[Harlequin phenomenon associated with neurological abnormalities: A case report]. / Phénomène d'Arlequin associé à des anomalies neurologiques : un cas.

BACKGROUND: Harlequin phenomenon consists of facial flush and erythrosis with unilateral sweating and pallor, associated with contralateral anhidrosis. We present the case of a child in whom the syndrome was associated with Horner's syndrome, epilepsy, mental and psychomotor retardation. PATIENTS AND METHODS: A 9-year-old boy presented with right unilateral hemifacial erythema on effort, with normal colouring and Horner's syndrome on the left side of the face. His medical history revealed generalized myoclonic epilepsy, psychomotor delay and mental retardation. No underlying anomalies were identified. Harlequin phenomenon was diagnosed. DISCUSSION: Despite its stereotypical clinical features, Harlequin phenomenon is a poorly known disease. However, clinicians must be aware of it in order to determine the diagnosis and investigate for causes and any associated abnormalities. The underlying mechanism is an autonomic neuropathy affecting the sympathetic vasodilator neurons. To our knowledge, there have been no previous reports of Harlequin phenomenon in association with Horner syndrome, psychomotor delay and mental retardation.

Distribution of cytokine gene single nucleotide polymorphisms among a multi-ethnic Iranian population.

BACKGROUND: Cytokine gene single nucleotide polymorphisms (SNPs) are widely used to study susceptibility to complex diseases and as a tool for anthropological studies. MATERIALS AND METHODS: To investigate cytokine SNPs in an Iranian multi-ethnic population, we have investigated 10 interleukin (IL) SNPs (IL-1ß (C-511T, T-31C), IL-2 (G-384T), IL-4 (C-590T), IL-6 (G-174C), IL-8 (T-251A), IL-10 (G-1082A, C-819T, C-592A) and tumor necrosis factor-alpha (TNF-α) (G-308A) in 415 Iranian subjects comprising of 6 different ethnicities. Allelic and genotypic frequencies as well as Hardy-Weinberg equilibrium (HWE) were calculated by PyPop software. Population genetic indices including observed heterozygosity (Ho), expected heterozygosity (He), fixation index (FIS), the effective number of alleles (N e) and polymorphism information content (PIC) were derived using Popgene 32 software. Multidimensional scaling (MDS) was constructed using Reynold's genetic distance obtained from the frequencies of cytokine gene polymorphism. RESULTS: Genotypic distributions were consistent with the HWE assumptions, except for 3 loci (IL-4-590, IL-8-251 and IL-10-819) in Fars and 4 loci (IL-4-590, IL-6-174, IL-10-1082 and TNF-α-308) in Turks. Pairwise assessment of allelic frequencies, detected differences at the IL-4-590 locus in Gilakis versus Kurds (P = 0.028) and Lurs (P = 0.022). Mazanis and Gilakis displayed the highest (Ho= 0.50 ± 0.24) and lowest (Ho= 0.34 ± 0.16) mean observed heterozygosity, respectively. CONCLUSIONS: MDS analysis of our study population, in comparison with others, revealed that Iranian ethnicities except Kurds and Mazanis were tightly located within a single cluster with closest genetic affinity to Europeans.

Bebé colodión: su evolución; presentación de tres casos / Collodion baby: its evolution; report of three cases

El bebé colodión se caracteriza por la presencia de una membrana que cubre la totalidad de la piel del recién nacido. La mayoría de los niños que presenta esta membrana desarrolla ictiosis, siendo la eritrodermia ictiosiforme congénita no ampollar la forma más frecuente, seguida de la ictiosis lamelar y la ictiosis vulgar. No existen características clínicas ni histológicas que sirvan de guía para predecir el diagnóstico final. Estos niños presentan complicaciones debido a las alteraciones de la función de barrera de la piel, como deshidratación hipernatrémica, hipotermia e infecciones cutáneas y sistémicas. Sin embargo el pronóstico de este cuadro ha mejorado en los últimos años debido a los mejores cuidados intensivos neonatales. Presentamos tres casos de bebé colodión evaluados en el servicio de Dermatología del Complejo Hospitalario de Pontevedra (España) y describimos sus características clínicas, tratamientos, complicaciones, pruebas complementarias realizadas y diagnóstico final. A pesar de que el bebé colodión es un fenotipo infrecuente, destacamos la importancia de conocer su tratamiento, así como los diferentes procesos a los que puede dar lugar...(AU)

Collodion baby consists on a membrane covering the whole body surface of a newborn. Most children born as collodion baby develop ichthyosis, being the most frequent the non-bullous congenital ichthyosiform erythroderma, followed by lamellar ichthyosis and ichthyosis vulgaris. There are no distinctive clinical or histological features that can be used to predict the final diagnosis. These children have complications due to the impaired barrier function, such as hypernatraemic dehydration, hypothermia, or cutaneous and systemic infections. However the prognosis has dramatically improved over time with the development of neonatal intensive care. We present three cases of collodion baby seen at the Dermatology Service of the Pontevedra Hospital Complex (Spain) and describe their clinical characteristics, treatments, complications, diagnostic procedures and final diagnoses. Despite collodion baby is an uncommon entity, we highlight the importance of knowing its treatment and the different processes that may arise from it...(AU)

Bebé colodión: su evolución; presentación de tres casos / Collodion baby: its evolution; report of three cases

El bebé colodión se caracteriza por la presencia de una membrana que cubre la totalidad de la piel del recién nacido. La mayoría de los niños que presenta esta membrana desarrolla ictiosis, siendo la eritrodermia ictiosiforme congénita no ampollar la forma más frecuente, seguida de la ictiosis lamelar y la ictiosis vulgar. No existen características clínicas ni histológicas que sirvan de guía para predecir el diagnóstico final. Estos niños presentan complicaciones debido a las alteraciones de la función de barrera de la piel, como deshidratación hipernatrémica, hipotermia e infecciones cutáneas y sistémicas. Sin embargo el pronóstico de este cuadro ha mejorado en los últimos años debido a los mejores cuidados intensivos neonatales. Presentamos tres casos de bebé colodión evaluados en el servicio de Dermatología del Complejo Hospitalario de Pontevedra (España) y describimos sus características clínicas, tratamientos, complicaciones, pruebas complementarias realizadas y diagnóstico final. A pesar de que el bebé colodión es un fenotipo infrecuente, destacamos la importancia de conocer su tratamiento, así como los diferentes procesos a los que puede dar lugar...

Collodion baby consists on a membrane covering the whole body surface of a newborn. Most children born as collodion baby develop ichthyosis, being the most frequent the non-bullous congenital ichthyosiform erythroderma, followed by lamellar ichthyosis and ichthyosis vulgaris. There are no distinctive clinical or histological features that can be used to predict the final diagnosis. These children have complications due to the impaired barrier function, such as hypernatraemic dehydration, hypothermia, or cutaneous and systemic infections. However the prognosis has dramatically improved over time with the development of neonatal intensive care. We present three cases of collodion baby seen at the Dermatology Service of the Pontevedra Hospital Complex (Spain) and describe their clinical characteristics, treatments, complications, diagnostic procedures and final diagnoses. Despite collodion baby is an uncommon entity, we highlight the importance of knowing its treatment and the different processes that may arise from it...

Bebé colodión / Collodion baby

Introducción. La ictiosis es una entidad clínica poco frecuente a nivel mundial (1:300,000 nacimientos). Sus formas clínicas en el neonato son bebé colodión y su manifestación más severa, feto arlequín o queratoma maligno. Clínicamente, la ictiosis se caracteriza principalmente por piel gruesa, dura y con hendiduras profundas. Las fisuras más prominentes se localizan sobre las áreas de flexión. Además, se observa ectropión en ambos ojos, deformidades en orejas y nariz; los labios se evierten provocando la apariencia de boca de pez. Caso clínico. Se reporta el caso de un bebé colodión, que por su vulnerabilidad tegumentaria se mantuvo bajo aislamiento estricto para evitar infecciones; sin embargo, hubo necesidad de aplicar antibiótico por secreción ocular purulenta causada por Staphylococcus aureus coagulasa negativa. El paciente evolucionó aceptablemente. Conclusiones. El bebé colodión ha disminuido su mortalidad gracias al cuidado multidisciplinario, por lo que su identificación y manejo deben ser oportunos.

Background. Ichtyosis is an infrequent clinical entity worldwide (1:300 000 births). When diagnosed in a newborn, we can identify two forms: collodion baby and its most severe form, harlequin fetus or maligna keratoma. In both cases, clinical manifestations are thick and hard skin with deep splits. The splits are more prominent in flexion areas. Moreover, we can observe ectropion in both eyes and deformities in the ears and nose, as well as inverted lips that resemble the mouth of a fish, among others signs. Case report. We report a case of a collodion baby who was kept in strict isolation to avoid any infection. However, due to purulent ocular secretions due to coagulase-negative Staphylococcus aureus, antibiotic treatment was indicated. The evolution of the patient was favorable. Conclusions. Mortality of the collodion baby has decreased as a result of multidisciplinary care and opportune diagnosis and management.

Ictiosis congénita grave / Severe congenital ichthyosis

La ictiosis es un raro trastorno que fue descrito por primera vez en 1750 por el reverendo Oliver Hart, en los Estados Unidos. Se presenta el caso de un feto del sexo masculino con aspecto externo de genodermatosis extrema compatible con ictiosis congénita grave, conocida como feto de arlequín. Se realizó la caracterización clínica y anatomopatológica de la enfermedad y se ofrece una revisión sobre esta rara genodermatosis que tiene un patrón de herencia autosómico recesivo y para la cual no existe ningún tratamiento exitoso, por lo que resulta una enfermedad letal. Se ofrecen resultados de la necropsia y se presentan fotografías del caso.

Ichthyosis is a rare disorder first described in 1750 by Reverend Oliver Hart in United States. Authors present a case of male fetus with external aspect of extreme genodermatosis, compatible with severe congenital ichthyosis, known as "Harlequin fetus". We performed a clinical and anatomical-pathologic characterization of disease, and it is offered a review on this rare genodermatosis with a heritance autosomal recessive pattern and for which there is not successful treatment, thus, it is lethal disease. Necropsy finding are offered as well as case photos.

Ictiosis congénita grave / Severe congenital ichthyosis

La ictiosis es un raro trastorno que fue descrito por primera vez en 1750 por el reverendo Oliver Hart, en los Estados Unidos. Se presenta el caso de un feto del sexo masculino con aspecto externo de genodermatosis extrema compatible con ictiosis congénita grave, conocida como feto de arlequín. Se realizó la caracterización clínica y anatomopatológica de la enfermedad y se ofrece una revisión sobre esta rara genodermatosis que tiene un patrón de herencia autosómico recesivo y para la cual no existe ningún tratamiento exitoso, por lo que resulta una enfermedad letal. Se ofrecen resultados de la necropsia y se presentan fotografías del caso(AU)

Ichthyosis is a rare disorder first described in 1750 by Reverend Oliver Hart in United States. Authors present a case of male fetus with external aspect of extreme genodermatosis, compatible with severe congenital ichthyosis, known as "Harlequin fetus". We performed a clinical and anatomical-pathologic characterization of disease, and it is offered a review on this rare genodermatosis with a heritance autosomal recessive pattern and for which there is not successful treatment, thus, it is lethal disease. Necropsy finding are offered as well as case photos(AU)