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1.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1536700

RESUMO

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.

2.
Acta méd. peru ; 40(1)ene. 2023.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1439127

RESUMO

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.

3.
BMC Med Genomics ; 14(1): 140, 2021 05 26.
Artigo em Inglês | MEDLINE | ID: mdl-34039366

RESUMO

BACKGROUND: Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. Among its different types, harlequin ichthyosis (HI) stands out due to its severity. HI is caused by mutations in the ABCA12 gene, which encodes essential proteins in epidermal lipid transport, and it helps maintain the homeostasis of the stratum corneum of the epidermis. However, due to the wide spectrum of genetic alterations that can cause ichthyosis, holistic medical care, and genetic studies are required to improve the diagnosis and outcomes of these diseases. CASE PRESENTATION: Here, we presented the case of a 19 years old male patient who was a premature infant and exhibited clinical features consistent with HI, including bright yellow hyperkeratotic plates with erythematous fissures that covered his entire body like a collodion baby. Currently, he exhibited erythroderma, photosensitivity, ectropion, auricular pavilion alterations, and musculoskeletal disorders, such as equinovarus feet, fingers, hands, and hypoplastic feet with contractures in flexion and marked difficulty in fine motor skills. In addition, he presented dyschromatopsia, Achilles reflex hyporeflexia, slight speech, dental alteration and deficient cognitive performance. After the genetic sequencing, variants were found in ABCA12 and HRNR which are related to several skin diseases, including ichthyosis. CONCLUSIONS: Although in clinical practice, ichthyosis is a common entity, a severe type of ichthyosis is presented, highlighting the importance of appropriate genetic diagnosis, given the broad spectrum of genetic alterations with similar phenotypic and clinical characteristics. These pathologies must be known to guarantee initial support measures to prevent complications and offer multidisciplinary management to those patients.


Assuntos
Ictiose Lamelar
4.
Zool Res ; 42(3): 272-279, 2021 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-33797210

RESUMO

A new species of the genus Atelopus, Atelopus fronterizo sp. nov., from eastern Panama is described herein based on molecular, morphological, and bioacoustic evidence. The new species can be distinguished from its congeners occurring in the region by a combination of the following characters: (1) phalangeal reduction in thumb; (2) SVL (females only) (35.1-50.1; n=13), HW/SVL (0.23-0.34; n=59), EYND/HW (0.27-0.39; n=60), TIBL/SVL (0.41-0.56; n=58), and HAL/SVL (0.22-0.28; n=49); (3) dorsal color pattern with green or yellow background and extensive dark olive blotches forming transversal bands or mottling; (4) advertisement call duration 176-235 ms with 19-34 pulses, average pulse rate 131.69 pulses/s, and dominant frequency 2 422.50-2 606.50 Hz. The new species is nested within the Central American clade of Atelopus. The minimum Kimura-2-parameter (K2P) genetic divergence between Atelopus fronterizo sp. nov. and its most phylogenetically similar congeners ( A. certus and A. glyphus) is >2.6% for 16S and >4.9% for COI (Table 1). The phylogenetic relationship is strongly supported by ultrafast bootstrap values for the maximum-likelihood trees of both genetic markers (16S, 96; COI, 100, Figure 1A). Bayesian analysis of the concatenated sequences resulted in a tree with similar topology and high posterior probability support (0.99; Supplementary Figure S1). In addition, haplotype networks inferred from COI and 16S (Supplementary Figure S2) showed a well-separated clade containing the new species (two for COI, four for 16S). The number of mutational steps between haplotypes for the new species samples is very low (1-4 in 16S; one in COI), and the minimum number of mutational steps from the nearest species is nine for 16S (distance to A. certus) and 28 for COI (distance to A. glyphus).


Assuntos
Bufonidae/classificação , Bufonidae/genética , Distribuição Animal , Animais , Panamá , Filogenia , Especificidade da Espécie
5.
Insect Sci ; 28(1): 238-250, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31989775

RESUMO

We tested two questions: (i) whether the climatic conditions of the Azorean Islands in Portugal may have restricted the invasion of Harmonia axyridis across this archipelago and (ii) determine what population of this species could have a higher probability of invading the islands. We used MaxEnt to project the climate requirements of different H. axyridis populations from three regions of the world, and the potential global niche of the species in the Azorean islands. Then we assessed the suitability of the islands for each of the three H. axyridis populations and global potential niche through histograms analysis, Principal Component Analysis (PCA) of climate variables, and a variable-by-variable assessment of the suitability response curves compared with the climatic conditions of the Azores. Climatic conditions of the Azores are less suitable for the U.S. and native Asian populations of H. axyridis, and more suitable for European populations and the global potential niche. The PCA showed that the climatic conditions of the islands differed from the climatic requirements of H. axyridis. This difference is mainly explained by precipitation of the wettest month, isothermality, and the minimum temperature of the coldest month. We concluded that the climatic conditions of the Azores could have influenced the establishment and spread of H. axyridis on these islands from Europe. Our results showed that abiotic resistance represented by the climate of the potentially colonizable zones could hinder the establishment of invasive insects, but it could vary depending of the origin of the colonizing population.


Assuntos
Clima , Besouros/fisiologia , Espécies Introduzidas , Características de História de Vida , Animais , Açores , Dinâmica Populacional
6.
Rev. chil. dermatol ; 37(1): 32-35, 2021. ilus
Artigo em Espanhol | LILACS | ID: biblio-1400801

RESUMO

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.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso Autônomo/diagnóstico , Rubor/diagnóstico , Hiperidrose/diagnóstico , Eritema , Face , Hipo-Hidrose
7.
PeerJ ; 8: e10461, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33312773

RESUMO

Harmonia axyridis is a ladybird extensively used around the world for biological control of agricultural pests. However, it has become invasive in several countries, producing negative ecological and socio-economic impacts. Herein, we review the invasion history of the Harlequin Ladybird Harmonia axyridis (Pallas, 1773) in Ecuador. Although first reported in Ecuador in 2012, museum specimens date back to 2004 and it is currently established across the country, especially along the Andean region. Due to its invasive nature, further studies are urgently needed to evaluate possible impacts of H. axyridis on the Ecuadorian biodiversity and agroindustry.

8.
Zootaxa ; 4853(3): zootaxa.4853.3.4, 2020 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-33056367

RESUMO

We describe a new harlequin frog (genus Atelopus) from the cloud forest near Anchihuay (Anco District, Ayacucho Department) from 2000 to 2150 m elevation in southern Peru, representing the first record for the genus in the Department of Ayacucho. The new species has a maximum snout-vent length of 21.5 mm in females and 21.6 mm in males, and resembles A. erythropus in general appearance, small size, and dorsal coloration. The new species can be distinguished from A. erythropus by its unique pattern of ventral coloration, dorsal skin texture, and snout shape. We detected the presence of the pathogenic fungus Batrachochytrium dendrobatidis in individuals of the new species. This pathogen is threatening the survival of harlequin frogs throughout the Neotropics. In addition to chytridiomycosis, habitat loss further threatens the single locality where the new species is known to occur.


Assuntos
Anuros , Bufonidae , Animais , Ecossistema , Feminino , Florestas , Masculino , Peru
9.
Rev. medica electron ; 42(5): 2408-2415, sept.-oct. 2020. graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1144744

RESUMO

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).


Assuntos
Humanos , Masculino , Recém-Nascido , Ictiose Lamelar/diagnóstico , Doenças Genéticas Inatas/diagnóstico , Diagnóstico Pré-Natal/métodos , Ictiose Lamelar/mortalidade , Ictiose Lamelar/terapia , Ictiose Lamelar/epidemiologia , Hiperceratose Epidermolítica/diagnóstico , Procedimentos Clínicos/normas
10.
Acta biol. colomb ; 24(2): 403-406, May-ago. 2019. graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1010869

RESUMO

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.

11.
Mol Genet Genomic Med ; 7(5): e608, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30916489

RESUMO

BACKGROUND: Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI genes are associated with LI and CIE phenotypes, the unique gene associated with HI is ABCA12. In HI, the most severe ARCI form, pathogenic variants in both ABCA12 gene alleles usually have a severe impact on protein function. The presence of at least one non-truncating variant frequently causes a less severe congenital ichthyosis phenotype (LI and CIE). METHODS: We report the case of a 4-year-old Ecuadorian boy with a severe skin disease. Genetic diagnosis was performed by NGS. In silico predictions were performed using Alamut software v2.11. A review of the literature was carried out to identify all patients carrying ABCA12 splice-site and missense variants, and to explore their genotype-phenotype correlations. RESULTS: Genetic testing revealed a nonsense substitution, p.(Arg2204*), and a new missense variant, p.(Val1927Leu), in the ABCA12 gene. After performing in silico analysis and a comprehensive review of the literature, we conclude that p.(Val1927Leu) affects a well conserved residue which could either disturb the protein function or alter the splicing process, both alternatives could explain the severe phenotype of our patient. CONCLUSION: This case expands the spectrum of ABCA12 reported disease-causing variants which is important to unravel genotype-phenotype correlations and highlights the importance of missense variants in the development of HI.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Ictiose Lamelar/genética , Mutação com Perda de Função , Fenótipo , Pré-Escolar , Códon sem Sentido , Humanos , Ictiose Lamelar/patologia , Masculino , Mutação de Sentido Incorreto , Sítios de Splice de RNA
12.
Zootaxa ; 4508(1): 131-140, 2018 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-30486001

RESUMO

Immature stages of Murgantia histrionica (Hemiptera: Pentatomidae) are described using light and scanning electron microscopy. Specimens of all life stages of M. histrionica were collected on Peritoma arborea (Cleomaceae) in Palm Springs, California. Specimens were observed in light and scanning microscopies, imagens taken and described based on specimens and photographs. We provide images of the eggs and immatures in light microscopy, and SEM of the eggs and first and fifth instars. Eggs of M. histrionica are barrel-shaped, white, with brown band and circular spot; the corium surface carinated, forming hexagonal cells; carinae irregular apically. The nymphal color pattern; the reflexed lateral margins of pro- and mesothorax; and the scattered punctuation of the tegument are a combination of characteristics enabling M. histrionica identification in its nymphal stages. The eggs of M. histrionica are similar in shape, color, and size to other Strachiini genera, such as Bagrada, Eurydema and Stenozygum. Among the Strachiini, the correct identification of M. histrionica based on immatures is possible by the shape of the head and pronotum, overall size of immatures, and coloration patterns.


Assuntos
Hemípteros , Óvulo , Animais , California , Heterópteros , Microscopia Eletrônica de Varredura , Ninfa
14.
Rev. bras. entomol ; Rev. bras. entomol;60(3): 260-266, July-Sept. 2016. tab, graf
Artigo em Inglês | LILACS | ID: lil-792684

RESUMO

ABSTRACT The biology, reproductive variables and population growth indicators of Harmonia axyridis (Pallas, 1773) (Coleoptera: Coccinellidae) fed on three diets, namely Cinara atlantica (Wilson, 1919) (Hemiptera: Aphididae), Brevicoryne brassicae (Linnaeus, 1758) (Hemiptera: Aphididae), and frozen eggs of Anagasta kuehniella (Zeller, 1879) (Lepidoptera: Pyralidae), were evaluated. With all three diets, birth rate was higher than mortality, resulting in positive rm values and thus indicating population growth. Under the conditions used in the experiments, H. axyridis was able to survive, develop and reproduce normally. This demonstrates that are different kind of food that can be essential for supporting the reproduction of some species of Coccinellidae, but not with the same optimization of preferred prey.

16.
Rev Bras Reumatol Engl Ed ; 56(1): 82-5, 2016.
Artigo em Inglês, Português | MEDLINE | ID: mdl-27267339

RESUMO

INTRODUCTION: Harlequin ichthyosis (HI) is a severe and rare hereditary congenital skin disorder characterized by excessive dryness, ectropion and eclabion. The association of ichthyosis with systemic sclerosis has been described in only three children. No patient with generalized morphea (GM) associated with harlequin ichthyosis was described. CASE REPORT: A 4-years and 6-months girl, diagnosed with harlequin ichthyosis based on diffuse cutaneous thickening, scaling, erythema, ectropion and eclabium since the first hours of birth was described. She was treated with acitretin (1.0mg/kg/day) and emollient cream. At 3 years and 9 months, she developed muscle contractures with pain on motion and limitation in elbows and knees, and diffuse sclerodermic plaques on the abdomen, back, suprapubic area and lower limbs. Skin biopsy showed rectified epidermis and mild hyperorthokeratosis, reticular dermis with perivascular and periadnexal infiltrates of lymphocytes and mononuclear cells, and reticular dermis and sweat gland sclerosis surrounded by a dense collagen tissue, compatible with scleroderma. The patient fulfilled the GM subtype criteria. Methotrexate and prednisone were introduced. At 4 years and 3 months, new scleroderma lesions occurred and azathioprine was associated with previous therapy, with no apparent changes after two months. DISCUSSION: A case of harlequin ichthyosis associated with a GM was reported. The treatment of these two conditions is a challenge and requires a multidisciplinary team.


Assuntos
Ictiose Lamelar/complicações , Esclerodermia Localizada/complicações , Acitretina , Pré-Escolar , Ectrópio , Feminino , Humanos , Ictiose Lamelar/diagnóstico , Ictiose Lamelar/tratamento farmacológico , Esclerodermia Localizada/diagnóstico , Esclerodermia Localizada/tratamento farmacológico , Pele
17.
Rev. bras. reumatol ; Rev. bras. reumatol;56(1): 82-85, jan.-fev. 2016. graf
Artigo em Inglês | LILACS | ID: lil-775208

RESUMO

Resumo Introdução Ictiose arlequim é uma doença cutânea congênita grave, autossômica e rara, caracterizada por ressecamento excessivo da pele e hiperqueratose. A associação de ictiose com esclerose sistêmica foi descrita em apenas três crianças. Ainda não foi descrito nenhum paciente com morfeia generalizada (MG) associada à ictiose arlequim. Relato de caso: Menina de quatro anos e seis meses de idade com diagnóstico de ictiose arlequim baseado em espessamento cutâneo difuso, com fissuras, descamação, eritema e sangramento da lesão desde as primeiras horas de vida. A paciente foi tratada com acitretina (1,0 mg/kg/dia) e creme emoliente. Aos três anos e nove meses, desenvolveu contraturas musculares com dor à movimentação e limitação nos cotovelos e joelhos e placas esclerodérmicas difusas no abdômen, nas costas, na região suprapúbica e nas extremidades inferiores. A biópsia de pele mostrou epiderme retificada e hiperqueratose leve, derme reticular com linfócitos, infiltrado mononuclear perivascular e perianexial e esclerose da derme reticular e glândula sudorípara rodeada por um tecido colágeno denso, compatível com esclerodermia. A paciente preencheu os critérios para o subtipo MG. Metotrexato e prednisona foram introduzidos. Aos quatro anos e três meses, apresentou novas lesões esclerodérmicas, associando-se azatioprina à terapêutica anterior, sem resposta após dois meses. Discussão: Um caso de ictiose arlequim associada à MG foi descrito. O tratamento dessas duas condições é um desafio e requer uma equipe multidisciplinar.


Abstract Introduction: Harlequin ichthyosis (HI) is a severe and rare hereditary congenital skin disorder characterized by excessive dryness, ectropion and eclabion. The association of ichthyosis with systemic sclerosis has been described in only three children. No patient with generalized morphea (GM) associated with harlequin ichthyosis was described. Case report: A 4-years and 6-months girl, diagnosed with harlequin ichthyosis based on diffuse cutaneous thickening, scaling, erythema, ectropion and eclabium since the first hours of birth was described. She was treated with acitretin (1.0 mg/kg/day) and emollient cream. At 3 years and 9 months, she developed muscle contractures with pain on motion and limitation in elbows and knees, and diffuse sclerodermic plaques on the abdomen, back, suprapubic area and lower limbs. Skin biopsy showed rectified epidermis and mild hyperorthokeratosis, reticular dermis with perivascular and periadnexal infiltrates of lymphocytes and mononuclear cells, and reticular dermis and sweat gland sclerosis surrounded by a dense collagen tissue, compatible with scleroderma. The patient fulfilled the GM subtype criteria. Methotrexate and prednisone were introduced. At 4 years and 3 months, new scleroderma lesions occurred and azathioprine was associated with previous therapy, with no apparent changes after two months. Discussion: A case of harlequin ichthyosis associated with a GM was reported. The treatment of these two conditions is a challenge and requires a multidisciplinary team.


Assuntos
Humanos , Feminino , Pré-Escolar , Esclerodermia Localizada/complicações , Ictiose Lamelar/complicações , Esclerodermia Localizada/diagnóstico , Esclerodermia Localizada/tratamento farmacológico , Pele , Ictiose Lamelar/diagnóstico , Ictiose Lamelar/tratamento farmacológico , Acitretina , Ectrópio
18.
Gac. méd. Caracas ; 119(4): 320-328, oct.-dic. 2011. ilus
Artigo em Espanhol | LILACS | ID: lil-701634

RESUMO

El síndrome de Ross fue descrito en 1958 como una afección degenerativa del sistema nervioso autónomo definido por la tríada de anhidrosis generalizada, disminución de los reflejos tendinosos y pupila tónica. Desde su descripción inicial se han descrito cerca de cuarenta casos. Comunicamos tres pacientes con variantes de interés que incluyen la presencia de espasmos cíclicos espontáneos del esfínter de iris, el desarrollo conjunto de síndrome de Holmes-Adie en un lado y síndrome Horner posganglionar en el otro, trastornos del desarrollo piloso en el lado de la anhidrosis, alteraciones de la motilidad intestinal, lengua sin papilas gustativas y disfunción sexual.


Ross Syndrome was described in 1958 as a degenerative condition of the autonomic nervous system defined by a triad of generalized anhidrosis, reduction of tendon reflexes and tonic pupil. Since its initial description about 40 cases have been described. We communicate three cases with variants of interest involving the presence of the simultaneous development of syndrome of Holmes-Adie on one side and Horner syndrome in the other, disorders of pilous follicle development on the side of anhidrosis, spontaneous disturbances of intestinal motility, tonque without papillae and sexual dysfunction.


Assuntos
Humanos , Masculino , Adulto , Feminino , Pessoa de Meia-Idade , Cefaleia/diagnóstico , Degeneração Neural/patologia , Doenças Neurodegenerativas/patologia , Doenças da Íris/patologia , Hiperidrose/patologia , Hipestesia/diagnóstico , Nervo Oculomotor/anatomia & histologia , Pupila Tônica/diagnóstico , Síndrome de Horner/patologia , Síndrome de Miller Fisher/fisiopatologia , Acuidade Visual/fisiologia , Anisocoria/fisiopatologia , Biópsia/métodos , Blefaroptose/etiologia , Midríase/fisiopatologia
19.
Bol. méd. Hosp. Infant. Méx ; 67(4): 352-358, jul.-ago. 2010. ilus
Artigo em Espanhol | LILACS | ID: lil-701036

RESUMO

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.

20.
Rev. cuba. pediatr ; 81(1)ene.-mar. 2009. ilus
Artigo em Espanhol | LILACS | ID: lil-576555

RESUMO

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.


Assuntos
Humanos , Ictiose Lamelar , Ceratose/congênito , Dermatopatias
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