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1.
Acta Medica Philippina ; : 68-73, 2023.
Article in English | WPRIM | ID: wpr-980246

ABSTRACT

Objective@#To present a rare case of Netherton Syndrome (NS) in a Filipino child. @*Case@#This is a case of an 11-year-old girl with elevated immunoglobulin E, trichorrhexis nodosa, and ichthyosis linearis circumflexa. She had dry skin with fine scaling at birth with recurrent pruritic, erythematous papules coalescing to plaques mainly on the face and extensors. The skin dryness turned to generalized redness with fine scaling, and the skin started getting tight. She could no longer completely extend both knees, but she was still able to walk. She also started having difficulty closing both eyes. She developed migratory serpiginous erythematous plaques with peripheral double-edged scaling. At six years old, she developed ulcers in the scalp, trunk, and extremities, which resulted in admission to our institution. She was managed for multiple skin infections, pneumonia, sepsis, seizure, severe malnutrition, joint contracture, atopy, and bilateral cicatricial ectropion.@*Conclusion@#Management of NS remains challenging. Common management options include emollients, topical corticosteroids, calcineurin, and protease inhibitor, and phototherapy while newer ones that need further validation include intravenous immunoglobulins and biologics such as infliximab. However, until specific recommendations are made, overall management for NS remains challenging. Regular multidisciplinary monitoring of the manifestations of NS is central to its management.


Subject(s)
Netherton Syndrome , Ichthyosis
2.
Rev. cuba. pediatr ; 952023. ilus
Article in Spanish | LILACS, CUMED | ID: biblio-1515287

ABSTRACT

Introducción: La ictiosis vulgar y el síndrome de Ehlers Danlos tipo clásico integran dos genodermatosis que presentan en común un patrón de herencia autosómico dominante, pero muestran manifestaciones clínicas variadas. Es infrecuente encontrar concomitancia de ambas dermatosis en un mismo paciente, y cuando ocurre la heterogeneidad clínica hace complejo el diagnóstico. Objetivo: Exponer un caso que presentó ictiosis vulgar asociada con el síndrome de Ehlers Danlos tipo clásico, en el que el análisis del árbol genealógico contribuyó a orientar el diagnóstico. Presentación del caso: Paciente femenina de 10 años de edad, atendida en la consulta especializada de genodermatosis en Las Tunas. Presentaba, desde edades tempranas, lesiones escamosas localizadas en las piernas y brazos, y que empeoraban durante el invierno. Desde los nueve años comenzó a mostrar luxaciones frecuentes de hombro derecho e hiperextensibilidad de la piel. Constaban antecedentes familiares de piel escamosa en miembros de la familia materna e hipermovilidad articular en varios miembros de la familia paterna: El árbol genealógico contribuyó a orientar el diagnóstico y a realizar la atención médica adecuada. Conclusiones: Se trató un caso interesante porque resulta infrecuente encontrar en un mismo paciente dos enfermedades genéticas, lo cual implicó dificultades en el momento de confirmar el diagnóstico, así como su atención. A este diagnóstico, en el caso de ambas genodermatosis, contribuyó el análisis del árbol genealógico familiar, herramienta fundamental en la determinación de enfermedades genéticas(AU)


Introduction: Ichthyosis vulgaris and Ehlers Danlos syndrome classic type comprise two genodermatoses that share an autosomal dominant pattern of inheritance, but show varied clinical manifestations. It is rare to find concomitance of both dermatoses in the same patient, and when this occurs the clinical heterogeneity makes the diagnosis complex. Objective: To present a case of ichthyosis vulgaris associated with classic Ehlers Danlos syndrome, in which analysis of the family tree helped to guide the diagnosis. Case presentation: 10-year-old female patient seen at the specialised genodermatosis clinic in Las Tunas. She presented, from an early age, with scaly lesions located on the legs and arms, which worsened during the winter. From the age of nine he began to show frequent dislocations of the right shoulder and hyperextensibility of the skin. There was a family history of scaly skin in members of the maternal family and joint hypermobility in several members of the paternal family: the family tree helped to guide the diagnosis and appropriate medical care. Conclusions: This was an interesting case because it is rare to find two genetic diseases in the same patient, which implied difficulties at the time of confirming the diagnosis, as well as its care. The analysis of the family tree, a fundamental tool in the determination of genetic diseases, contributed to this diagnosis in the case of both genodermatoses(AU)


Subject(s)
Humans , Female , Child , Skin/injuries , Skin Diseases/genetics , Ichthyosis Vulgaris/diagnosis , Ichthyosis/classification , Shoulder Dislocation , Medical History Taking/methods
3.
Medisan ; 26(1)feb. 2022. ilus
Article in Spanish | LILACS, CUMED | ID: biblio-1405768

ABSTRACT

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.


Subject(s)
Infant, Newborn , Ichthyosis , Skin , Eyelids , Lip
4.
Rev. colomb. obstet. ginecol ; 72(3): 291-297, July-Sept. 2021. graf
Article in Spanish | LILACS | ID: biblio-1351953

ABSTRACT

Objetivo: reportar el caso de una gestante con diagnóstico ultrasonográfico de alteración del sistema tegumentario fetal y diagnóstico posnatal de síndrome de Omenn. Presentación de caso: se presenta el caso de paciente de 27 años con embarazo de 31 semanas, con exploración ultrasonográfica prenatal que evidencia feto con edema significativo del cuero cabelludo, líquido amniótico ecogénico y descamación de la piel abdominal, con aproximación diagnóstica ultrasonográfica de variante de ictiosis. El recién nacido presentó eritrodermia congénita complicada con infección de piel, con posterior choque séptico y muerte. El estudio genético y patológico concluye síndrome de Omenn. Conclusión: el síndrome de Omenn debe ser tomado en cuenta en los diagnósticos diferenciales cuando en la ultrasonografía prenatal existan hallazgos ultrasongráficos de una alteración del sistema tegumentario. Se requieren estudios que evalúen la exactitud del ultrasonido en el diagnóstico antenatal de las eritrodermias.


Objective: To report the case of a pregnant woman with ultrasound diagnosis of altered fetal tegumental system and postnatal diagnosis of Omenn syndrome. Case presentation: A 27-year-old patient who presented at 31 weeks of gestation with prenatal ultrasound evidence of a fetus with significant scalp edema, echogenic amniotic fluid and scaly abdominal skin, with ichtyosis variant impression on diagnostic ultrasound. The baby was born with congenital erythroderma complicated with skin infection, and later developed septic shock and died. The genetic and pathologic workup led to the conclusion of Omenn syndrome. Conclusion: Omenn syndrome must be considered as part of the differential diagnoses when prenatal ultrasound shows findings of altered tegument system. Studies are required to assess the accuracy of ultrasound for prenatal diagnosis of erythroderma.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Severe Combined Immunodeficiency , Ultrasonography, Prenatal , Edema , Ichthyosis
5.
An. bras. dermatol ; 96(2): 234-236, Mar.-Apr. 2021. graf
Article in English | LILACS | ID: biblio-1248750

ABSTRACT

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 Aged
6.
Rev. chil. anest ; 50(5): 716-719, 2021. ilus
Article in Spanish | LILACS | ID: biblio-1532907

ABSTRACT

INTRODUCTION: Ichthyosis are hereditary disorders of keratinization which are characterized for the presence of hyperkeratosis and/or peeling. This disorder group can put in danger the life of the patient because of the severe alteration of the skin barrier, associated with a severe transdermic loss of water, different grades of hypothermia and a hypernatremic dehydration. OBJECTIVE: Introducing the clinic case of an infant patient with the diagnosis of ichthyosis plus severe dehydration who is scheduled for placement of CVC. CLINICAL CASE: Male infant, 3 months old, with the diagnosis of ichthyosis and severe dehydration, scheduled for placement of CVC. CONCLUSIONS: Due to the urgency of our patient, who presented severe dehydration, an inhaled general anesthesia with sevoflurane and oxygen was decided, without instrumenting the airway which in these patients has the risk of being potentially difficult, from the placement of the face mask itself, until finding lesions within the oral cavity, ventilatory assis- tance should be maintained by the pediatric anesthesiologist, once venous access is achieved, the fluids restitution is performed with loads of 10 to 20 ml/kg of the patient's weight, hyperthermia was controlled with physical means.


INTRODUCCIÓN: Las ictiosis son trastornos hereditarios de la queratinización caracterizadas por la presencia de hiperqueratosis y/o descamación. Este grupo de patologías pueden poner en peligro la vida del paciente debido a la severa alteración de la barrera cutánea, asociada a intensa pérdida transepidérmica de agua, diferentes grados de hipotermia y la deshidratación hipernatrémica. OBJETIVO: Presentar un caso clínico de paciente lactante menor con diagnóstico de ictiosis, cursando un cuadro grave por deshidratación, al que se le instala un CVC. CASO CLÍNICO: Lactante masculino, 3 meses de edad, con diagnóstico de ictiosis y deshidratación grave programado para colocación de CVC. CONCLUSIONES: Debido a la urgencia del paciente quien presentaba un caso de deshidratación severa se decide anestesia general inhalada con sevoflurano y oxígeno, sin instrumentación de la vía área, la cual en estos pacientes tiene el riesgo de ser potencialmente difícil, desde la propia colocación de la mascarilla facial hasta encontrar lesiones dentro de la cavidad oral; se debe mantener la asistencia ventilatoria por el anestesiólogo pediatra, una vez logrado el acceso venoso se procede a la restitución hídrica con cargas de 10 a 20 ml/kg de peso del paciente, el control de la hipertermia fue con medios físicos.


Subject(s)
Humans , Male , Infant , Catheterization, Central Venous/methods , Ichthyosis/complications , Anesthesia/methods , Laryngeal Masks , Dehydration , Hyperthermia
8.
Rev. argent. dermatol ; 101(1): 101-110, mar. 2020. graf
Article in Spanish | LILACS | ID: biblio-1125811

ABSTRACT

Resumen Las ictiosis congénitas autosómicas recesivas (ICAR) son poco frecuentes a nivel mundial con una incidencia de 1:300,000 nacimientos, se caracterizan por trastornos de la queratinización, entre sus variantes engloban las formas no sindrómicas de ictiosis, como la ictiosis laminar (IL), la eritrodermiaictiosiforme congénita (EIC) y actualmente se incluyen la ictiosis arlequín, el bebé colodión autorresolutivo, el bebé colodión autorresolutivoacral y la ictiosis en traje de baño. Desde el punto de vista genético son heterogéneas, originadas por una mutación en el gen de la transglutaminasa 1 y se las haasociado a TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 y ABCA12. Clínicamente, la ictiosis se caracteriza principalmente por piel gruesa, escamas laminares adherentes con hendiduras profundas. En este trabajo pretende revisar los conocimientos actuales en el campo de las ICAR, incluyendo aspectos clínicos, histológicos, ultraestructurales, genético-moleculares, tratamiento,y también su manejo clínico.


Abstract The autosomal recessive congenital ichthyosis (ARCI) is a rare worldwide condition with an incidence of (1: 300,000 births), characterized by disorders of keratinization, among its variants encompass the non-syndromic forms of ichthyosis, such as laminar ichthyosis (IL) , congenital ichthyosiform erythroderma (EIC) and currently include harlequin ichthyosis, self-healing colodion baby, acral self-healing colodion baby and ichthyosis in swimsuits. From a genetic point of view, they're heterogeneous, originated by a mutation in the gene of transglutaminase 1 and associated with TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 and ABCA12. Clinically, ichthyosis is mainly characterized by thick skin, adherent lamellar scales with deep clefts. The aim of this work is to review the current knowledge in the field of ICAR, including clinical, histological, ultrastructural, genetic-molecular and therapeutic aspects as well as its clinical management.


Subject(s)
Humans , Female , Child, Preschool , Transglutaminases/biosynthesis , Ichthyosis, Lamellar/pathology , Ichthyosis, Lamellar/drug therapy , Ichthyosis/epidemiology , Ichthyosis, Lamellar/diagnosis
10.
J. Health Biol. Sci. (Online) ; 7(4): 432-435, 30/09/2019.
Article in Portuguese | LILACS | ID: biblio-1023541

ABSTRACT

Relato de caso: apresentamos um caso de diagnóstico ecográfico pré-natal de ictiose de Arlequim, que evoluiu com óbito intrauterino. Conclusão: esse distúrbio caracteriza-se por um neonato envolto por uma membrana espessa de material córneo com fissuras generalizadas, comprometendo as funções básicas da pele e predispondo o recém-nascido a infecções e a alterações metabólicas. Com prognóstico desfavorável, o diagnóstico precoce e o tratamento de suporte visam aumentar a sobrevida e melhorar a qualidade de vida ao neonato.


Case report: we present a case of prenatal ultrasound diagnosis of ichthyosis of Harlequin, which evolved with intrauterine decease. Conclusion: this disorder is characterized by a neonate wrapped in a thick membrane off horny material with generalized fissures that compromise the basic functions of the skin, predisposing the newborn to infections and metabolic alterations. With a reserved prognosis, early diagnosis and supportive care aim to increase survival and improve the quality of life of the newborn.


Subject(s)
Ichthyosis , Skin Abnormalities , Congenital Abnormalities
11.
Arq. bras. oftalmol ; 82(4): 345-353, July-Aug. 2019. graf
Article in English | LILACS | ID: biblio-1019411

ABSTRACT

ABSTRACT Cicatricial ectropion may be a consequence of certain systemic diseases as well as the result of drug use. Our goal here was to research the different causes of this condition as reported in the literature, including more recently suspected etiologies. A detailed PubMed literature search indicated many different etiologies were associated with cicatricial ectropion development, from severe cases of systemic diseases, such as ichthyosis and lupus erythematosus, to reversible scenarios secondary to anti-glaucomatous drug use. More recently reported connections include periorbital necrotizing fasciitis, frontal osteomyelitis, and antineoplastic agents. Indeed, cicatricial ectropion may be highly symptomatic; being able to determine its real etiology is imperative to managing patients properly. In this investigation, we felt that an explicitly multidisciplinary approach was essential, especially for cases associated with systemic conditions.


RESUMO O ectrópio cicatricial pode ser uma consequência de certas doenças sistêmicas, bem como o resultado do uso de drogas. Nosso objetivo aqui foi pesquisar as diferentes causas desta condição, conforme relatado na literatura, incluindo mais recentemente suspeitas de etiologias. Uma pesquisa bibliográfica detalhada do PubMed indicou que muitas etiologias diferentes estavam associadas ao desenvolvimento do ectrópio cicatricial, desde casos graves de doenças sistêmicas, como ictiose e lúpus eritematoso, até cenários reversíveis secundários ao uso de drogas antiglaucomatosas. Conexões relatadas mais recentemente incluem fasceíte necrosante periorbitária, osteomielite frontal e agentes antineoplásicos. De fato, o ectrópio cicatricial pode ser altamente sintomático; ser capaz de determinar sua etiologia real é imperativo para o manejo adequado dos pacientes. Nesta investigação, sentimos que uma abordagem explicitamente multidisciplinar era essencial, especialmente para casos associados a doenças sistêmicas.


Subject(s)
Humans , Cicatrix/etiology , Cicatrix/pathology , Ectropion/etiology , Ectropion/pathology , Lupus Erythematosus, Cutaneous/complications , Arthritis, Psoriatic/complications , Eyelids/pathology , Ichthyosis/complications
12.
Journal of the Korean Ophthalmological Society ; : 380-386, 2019.
Article in Korean | WPRIM | ID: wpr-738617

ABSTRACT

PURPOSE: To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. CASE SUMMARY: A 42-year-old female visited our clinic for decreased left visual acuity and corneal opacity. She had undergone several surgeries previously due to the presence of basosquamous carcinoma in the left lower eyelid, neurofibroma, and malignant melanoma of the facial skin. The patient showed repeated corneal surface problems, with a suspicious dendritic lesion; however, antiviral therapy was ineffective, and herpes simplex virus polymerase chain reaction results were negative. Despite regular follow-ups, the patient showed neovascularization around the corneal limbus and an irregular corneal surface. We performed corneal debridement with autologous serum eye drops for treatment. The patient's visual acuity and corneal surface improved after the procedure. The impression cytology result was corneal dysplasia. In whole exome sequencing, two pathogenic variants and one likely pathogenic variant of the POLH gene were detected. CONCLUSIONS: This is the first genetically identified xeroderma pigmentosum case with ophthalmological lesions of the eyelid and cornea in Korea. Debridement of the irregular corneal surface and autologous serum eye drop administration in xeroderma pigmentosum could be helpful for improving visual acuity.


Subject(s)
Adult , Female , Humans , Carcinoma, Basosquamous , Cornea , Corneal Opacity , Debridement , Diagnosis , Exome , Eyelids , Follow-Up Studies , Ichthyosis , Korea , Limbus Corneae , Melanoma , Neurofibroma , Ophthalmic Solutions , Polymerase Chain Reaction , Simplexvirus , Skin , Visual Acuity , Xeroderma Pigmentosum
13.
Annals of Dermatology ; : 581-584, 2019.
Article in English | WPRIM | ID: wpr-762367

ABSTRACT

No abstract available.


Subject(s)
Humans , Ichthyosis , Ichthyosis, Lamellar
14.
Rev. chil. dermatol ; 35(2): 36-43, 2019. tab, ilus
Article in Spanish | LILACS | ID: biblio-1103479

ABSTRACT

INTRODUCCIÓN: Las enfermedades acatólicas son un grupo heterogéneo de enfermedades que presentan como característica central histopatológica la acantosis. Generalmente presentan un curso de evolución crónica y recidivante, con variadas manifestaciones clínicas. OBJETIVO: caracterizar los pacientes con diagnóstico de enfermedad acantolítica, bajo 5 criterios clínicos y realizar una revisión de la literatura. MÉTODOS: Se realizó una revisión de la base de datos del Servicio Anatomía Patológica del Hospital San Borja Arriaran (HSBA) entre los años 2007 y 2017 y se complementaron con los antecedentes clínicos extraídos de las fichas clínicas.RESULTADOS: Se obtuvo un total de 13 casos. el 53,8% correspondieron a enfermedad de Darier, 20,6% a enfermedad de Hailey-Hailey y un 20,6% a enfermedad de Grover, obteniendo un promedio de edad al momento del diagnóstico de 22,5 años, 44,3 años y 47,6 años respectivamente. Los antecedentes familiares estuvieron presentes en el 53,8% del total de pacientes, ninguno de ellos presentaba estudio genético. El 61,5% de la muestra correspondió a pacientes de sexo femenino y el promedio de años de evolución previo al diagnóstico fue de 7,4 años para Darier, 8,6 para Hailey-Hailey y para Grover. El 100% de los pacientes con enfermedad de Darier y Grover estaban con terapia sistémica y el 66,6% de enfermedad de Hailey-Hailey con terapia tópica, todos con adecuada respuesta clínica. DISCUSIÓN y conclusiones: las enfermedades acantolíticas corresponden a genodermatosis poco frecuente cuyo diagnóstico y tratamiento constitu-yen un desafío para el dermatólogo


INTRODUCTION: Atytolic diseases are a heterogeneous group of diseases that present acanthosis as a histopathological central characteristic. They usually present a course of chronic and recurrent evolution, with varied clinical manifestations. OBJECTIVE: to characterize the patients diagnosed with acantholytic disease, with 5 clinical criteria and to carry out a review of the literature. METHODS: A review of the database of the Pathological Anatomy Service of the San Bor-ja Arriaran Hospital (HSBA) between 2007 and 2017 was carried out and complemented with the clinical records extracted from the clinical files. RESULTS: A total of 13 cases were obtained. 53.8% corresponded to Darier's disease, 20.6% to Hailey-Hailey's disease and 20.6% to Grover's disease, obtaining an average age at diagnosis of 22.5 years, 44.3 years and 47.6 years respectively. Family history was present in 53.8% of the to-tal patients, none of them had a genetic study. 61.5% of the sample corresponded to female patients and the average of years of evolution prior to diagnosis was 7.4 years for Darier, 8.6 for Hailey-Hailey and for Grover. 100% of the pa-tients with Darier and Grover's disease were on systemic therapy and 66.6% of Hailey-Hailey's disease with topical therapy, all with adequate clinical response. DISCUSSION AND CONCLUSIONS: acantholytic diseases correspond to rare genodermatosis whose diagnosis and treatment constitute a challenge for the dermatologist.


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Aged , Acantholysis/epidemiology , Pemphigus, Benign Familial/epidemiology , Ichthyosis/epidemiology , Darier Disease/epidemiology , Chile , Retrospective Studies , Acantholysis/diagnosis , Pemphigus, Benign Familial/diagnosis , Ichthyosis/diagnosis , Darier Disease/diagnosis
15.
Revista Digital de Postgrado ; 8(1): 156, 2019. ilus
Article in Spanish | LIVECS, LILACS | ID: biblio-1023831

ABSTRACT

Se presenta un caso de mujer postmenopáusica, goajira, sin criterios de riesgo para adenocarcinoma del endometrio, que mediante el legrado uterino por aspiración de piometra se diagnosticó un carcinoma pavimentoso primitivo epitelial del endometrio (CPPEE), por llenar algunos criterios: no invasión al cuello, ni extensión de uno cervical al endometrio, ni la presencia de queratinización de la superficie endometrial y/o puentes intercelulares. No hubo evidencia de presencia de virus de papiloma humano (VPH). Después de la histerectomía se encontró que sí existía un tumor endometrial grado III, estadio IB. compuesto por elementos glandulares y tejido escamoso en ciertas áreas. Tampoco existían criterios para un diagnóstico de ictiosis uterina, infiltrante, sin componente velloso, Hubo confusión en el diagnóstico inicial. La rareza del CPPEE, menos de 100 casos reportados en el mundo, condujo al análisis con varios patólogos. Se concluye que para obtener el diagnóstico correcto, deben llenarse los criterios de Flumman y de la Organización Mundial de la Salud, excluir infección del tracto genital por VPH, los estudios de inmunohistoquímica deben ser positivos para queratinas y carecer de receptores para estrógenos y progesterona. El legrado o la biopsia no son confiables para el diagnóstico. Además de la evaluación histológica y del estadio clínico, el estudio de toda la pieza quirúrgica es fundamental para emitir pronóstico(AU)


A goajira menopausal woman, with no risk criteria for endometrial adenocarcinoma, was diagnosed through uterine curettage by aspiration of pyometra as primary squamous carcinoma of the endometrium (CPPEE) to meet following criteria: no invasion of the cervix, no extension of the cervical to the endometrium, absence of keratinization of the endometrial surface and intercellular bridges. There was no evidence of human papillomavirus. After the hysterectomy, there was an endometrial tumor composed of glandular elements and squamous tissue in areas, without filling the elements for diagnosis of ichthyosis uteri, infiltrating, without vellous component, grade III and stage IB. There was confusion in the initial diagnosis. The rarity of the CPPEE, less than 100 cases in the world, led to the analysis with several pathologists. It is concluded that in order to obtain the correct diagnosis, it must meet the criteria of Flumman and WHO, exclude infection of the genital tract by HPV, immunohistochemical studies must be positive for keratins and lack estrogen and progesterone receptors. The curettage or the biopsy are not reliable and the study of the whole surgical part is fundamental. In order to establish a prognosis, an accurate diagnosis must be made(AU)


Subject(s)
Humans , Female , Middle Aged , Carcinoma/pathology , Adenocarcinoma/pathology , Endometrial Neoplasms , Biopsy , Hysterectomy , Ichthyosis
16.
An. bras. dermatol ; 93(5): 723-725, Sept.-Oct. 2018. graf
Article in English | LILACS | ID: biblio-949938

ABSTRACT

Abstract: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established.


Subject(s)
Humans , Male , Child, Preschool , Abnormalities, Multiple/genetics , Hand Deformities, Congenital/genetics , Keratoderma, Palmoplantar/genetics , Hearing Loss, Sensorineural/genetics , Ichthyosis/genetics , Pedigree
17.
An. bras. dermatol ; 93(5): 671-679, Sept.-Oct. 2018. tab, graf
Article in English | LILACS | ID: biblio-949954

ABSTRACT

Abstract: Background: Current data regarding the associated factors of prurigo nodularis are still uncertain, except for atopic predisposition. Objectives: The purposes of this study were to (1) determine the frequencies of xerosis and other accompanying diseases of female patients with prurigo nodularis; (2) compare the demographic, clinical and accompanying disease characteristics by grouping these patients according to whether they have associated xerosis (who were subsequently subgrouped as atopic or non-atopic) or not. Methods: In this retrospective descriptive study, 80 females with PN were categorized according to the accompanying diseases (dermatological, systemic, neurological, psychogenic, mixed, or undetermined origin). Results: A total of 45 associated co-factors including dermatological in 63 (78.8%), systemic in 57 (71.3%), psychological in 33 (41.3%) and neurological co-factors in 14 (17.5%) of all patients with prurigo nodularis were detected. Xerosis was observed in 48 (60%) patients (non-atopic co-factors in 66.7% of them). The ratio of patients with mixed co-factors, dermatological+systemic co-factors and dermatological+systemic+psychological co-factors were found to be significantly higher in patients with xerosis compared to those without xerosis. Study limitations: Our study has certain limitations such as the absence of an age-matched control group, absence of follow-up data and the fact that the diagnosis of xerosis has not been based on objective methods. Conclusions: Xerosis has been identified in more than half of the patients with PN and it has been determined that in most patients xerosis is associated especially with diabetes mellitus and other conditions related to prurigo nodularis.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Young Adult , Prurigo/pathology , Pruritus/pathology , Ichthyosis/pathology , Prurigo/etiology , Pruritus/etiology , Retrospective Studies , Age of Onset , Ichthyosis/etiology
18.
Diagn. tratamento ; 23(1): 3-6, 06/04/2018. fig, tab
Article in Portuguese | LILACS | ID: biblio-882152

ABSTRACT

Contexto: A ictiose lamelar é uma genodermatose rara, de herança autossômica recessiva. Pode ser causada por diferentes genes, principalmente mutação no gene TGM1 (transglutaminase 1) no cromossomo 14, e tem incidência de 1 caso em cada 200 mil nascidos vivos. A ictiose lamelar é causa de importante impacto na qualidade de vida. Relato da comunicação: Paciente do sexo feminino, 44 anos, procura atendimento médico para investigação de sintomas psiquiátricos, os quais foram avaliados. Foi afastado qualquer quadro psiquiátrico. Encaminhada à dermatologia, devido a evidente descamação lamelar disseminada, queratodermia palmoplantar, onicodistrofias e ectrópio bipalpebral. O exame clínico dermatológico e a avaliação histopatológica, evidenciaram características de ictiose lamelar, nunca tratada. Discussão: A ictiose lamelar é, na maioria das vezes, diagnosticada ao nascimento, com apresentação clínica muitas vezes sob a forma de bebê colódio. Este caso apresentou-se na vida adulta, com história desde o nascimento e, portanto, descartou-se a ictiose adquirida, relacionada a afecções nutricionais, metabólicas ou até paraneoplásicas. Conclusões: Este caso ilustra as manifestações da ictiose lamelar em paciente adulta em sua evolução natural, sem a interferência de tratamento.


Subject(s)
Humans , Female , Adult , Ichthyosis , Ichthyosis, Lamellar , Skin Abnormalities , Skin Diseases, Genetic , Transglutaminases
19.
An. bras. dermatol ; 93(1): 135-137, Jan.-Feb. 2018. graf
Article in English | LILACS | ID: biblio-887143

ABSTRACT

Abstract: Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare disorder have been published. The authors report a case of trichothiodystrophy in a male infant with ichthyosis, photosensitivity, spastic paraparesis, short stature, and neurologic and psychomotor retardation. Diagnosis was based on clinical and microscopic features of hair samples.


Subject(s)
Humans , Male , Child, Preschool , Abnormalities, Multiple/diagnosis , Trichothiodystrophy Syndromes/diagnosis , Ichthyosis/diagnosis , Intellectual Disability/diagnosis , Photosensitivity Disorders/complications , Trichothiodystrophy Syndromes/complications , Ichthyosis/complications , Intellectual Disability/complications
20.
Repert. med. cir ; 27(1): 44-46, 2018. Ilus.
Article in English, Spanish | LILACS, COLNAL | ID: biblio-912069

ABSTRACT

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.


Subject(s)
Humans , Female , Pregnancy , Skin Diseases , Ichthyosis , Autopsy
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