ABSTRACT
In Drosophila, rhomboid proteases are active cardinal regulators of epidermal growth factor receptor (EGFR) signaling pathway. iRhom1 and iRhom2, which are inactive homologs of rhomboid intramembrane serine proteases, are lacking essential catalytic residues. These are necessary for maturation and trafficking of tumor necrosis factor-alpha (TNF-α) converting enzyme (TACE) from endoplasmic reticulum (ER) to plasma membrane through Golgi, and associated with the fates of various ligands for EGFR. Recent studies have clarified that the activation or downregulation of EGFR signaling pathways by alteration of iRhoms are connected to several human diseases including tylosis with esophageal cancer (TOC) which is the autosomal dominant syndrom, breast cancer, and Alzheimer's disease. Thus, this review focuses on our understanding of iRhoms and the involved mechanisms in the cellular processes.
Subject(s)
Humans , Alzheimer Disease , Breast Neoplasms , Cell Membrane , Down-Regulation , Drosophila , Endoplasmic Reticulum , Esophageal Neoplasms , Keratoderma, Palmoplantar, Diffuse , Ligands , Peptide Hydrolases , ErbB Receptors , Serine Proteases , Tumor Necrosis Factor-alphaABSTRACT
La pitiriasis rubra es una dermatosis inflamatoria rara de causa desconocido. Se clasifica en cinco tipos basado en la edad de inicio, curso clínico, características morfológicas y pronóstico. En la población pediátrica el tipo III o clásico juvenil es el segundo en frecuencia. Se caracteriza por hiperqueratosis folicular, la que puede acompañarse de queratodermia palmoplantar y alteraciones ungueales. Se presenta el caso de un paciente varón, de nueve años de edad con pitiriasis rubra pilaris clásica juvenil en tratamiento con acitretina, con buena respuesta clínica...
Pityriasis rubra pilaris is a rare inflammatory dermatosis of unknown cause. It is classified into five types bases on age of onset, clinical course, morphology and prognosis. In pediatric population classic juvenile or type III is the second most common type. It is characterized by follicular hyperkeratosis, which may be associated with palmoplantar keratoderma and nail changes. We present the case of a 9-years-old male patient with classic juvenile pityriasis rubra pilaris successfully treated with acitretin...
Subject(s)
Humans , Male , Child , Pityriasis Rubra Pilaris , Pityriasis Rubra Pilaris/diagnosis , Pityriasis Rubra Pilaris/therapy , Keratoderma, Palmoplantar, Diffuse , Keratoderma, PalmoplantarABSTRACT
La eritroqueratodermia simétrica progresiva (EQSP) es una genodermatosis rara que se manifiesta por placas queratósicas con base eritematosa, simétricas, policíclicas, localizadas principalmente en las extremidades. Se presenta un caso de un varón de 16 años, controlado desde el nacimiento, con un gran porcentaje de la superficie cutánea afectada.
The progressive symmetrical erythrokeratodermia (EQSP) is a rare genodermatosis manifested by symmetric erythematous and keratotic plaques, polycyclic, located mainly on the limbs. We report a case of a 16 years old boy, controlled from birth, with a large percentage of skin surface affected.
Subject(s)
Humans , Male , Adolescent , Keratoderma, Palmoplantar, Diffuse , Keratosis , Face , Parapsoriasis , Skin Diseases, PapulosquamousABSTRACT
A tilose palmo-plantar é um distúrbio autossômico dominante caracterizado por uma hiperceratose palmo-plantar. Em geral, desenvolve-se na segunda infância e se acentua em áreas de pressão. Existem duas formas familiares de tilose palmo-plantar: a não epidermolítica e a epidermolítica. Os pacientes com tilose palmo-plantar forma epidermolítica apresentam uma chance até 40 por cento maior de desenvolver carcinoma de células escamosas do esôfago. A associação de tilose palmo-plantar com neoplasia esofágica é denominada síndrome de Howel-Evans.
Tylosis palmoplantaris is an autosomal dominant disorder characterized by hyperkeratosis of palms and soles. Lesions start during childhood and are more evident in areas of pressure. Familial tylosis palmoplantaris comprises two forms: epidermolytic and non-epidermolytic. Patients with the epidermolytic variant have up to 40 percent higher chance of developing squamous cell carcinoma of the esophagus. The association of tylosis palmoplantaris with esophageal cancer is called Howel-Evans syndrome.
Subject(s)
Adult , Female , Humans , Carcinoma, Squamous Cell/complications , Esophageal Neoplasms/complications , Keratoderma, Palmoplantar, Diffuse/complications , Keratoderma, Palmoplantar, Diffuse/geneticsABSTRACT
Objetivo: Determinar las caracteristicas clínicas y anatomopatológicas de las dermatosis paraneoplásicas y las neoplasias subyacentes más frecuentes en el Hospital Nacional Dos de Mayo entre los años 1993-2004. Material y Métodos: Estudio descriptivo, retrospectivo y observacional. Se incluyó a todo paciente que cumpliera con los criterios de dermatosis paraneoplásica, historia clínica completa, estudio anatomopatológico, exámenes auxiliares e iconografía. Resultados: La edad promedio de los pacientes fue de 41,73 más menos 15,27 años y el tiempo de enfermedad 12,67 más menos 8,78 meses. Se encontró 15 casos de dermatosis paraneoplásicas: acantosis nigricans maligna, queratodermia palmoplantar (tilosis), dermatosis ampollares, dermatomiositis, papulosis linfomatoide, paniculitis vasculítica edematosa cicatricial, sarna costrosa, amiloidosis sistémica primaria, xantomatosis, eritema necrolítico migratorio, dermatitis infectiva y paniculitis pancreática. Las neoplasias encontradas con mayor frecuencia fueron los linfomas (6 casos), adenocarcinoma gástrico (2 casos) y neoplasia maligna de páncreas (2 casos). Conclusiones: Las dermatosis paraneoplásicas son entidades dermatológicas raras, de difícil reconocimiento que en nuestro estudio estuvieron asociadas con mayor frecuencia a linfomas.
Subject(s)
Humans , Male , Female , Acanthosis Nigricans , Amyloidosis , Dermatitis , Dermatomyositis , Keratoderma, Palmoplantar, Diffuse , Lymphomatoid Papulosis , Mite Infestations , Panniculitis , Skin Diseases , Xanthomatosis , Epidemiology, Descriptive , Observational Studies as Topic , Retrospective StudiesABSTRACT
OBJECTIVE@#To identify the gene causing diffuse palmoplantar keratoderma in a Chinese pedigree.@*METHODS@#Four normal individuals and 3 patients in a diffuse palmoplantar keratoderma family and 10 unrelated control samples were recruited. The hotspot of the mutations of keratin 9 gene was analyzed by polymerase chain reaction and direct sequencing.@*RESULTS@#We found a G485A transition in ke ratin 9 gene, resulting in the substitution of glutamine for arginine at codon 162 in this diffuse palmoplantar keratoderma family. The mutation was not found in the 10 unrelated control samples and 4 normal individuals.@*CONCLUSION@#The mutation G485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family.
Subject(s)
Female , Humans , Male , Base Sequence , DNA Mutational Analysis , Heterozygote , Keratins , Genetics , Keratoderma, Palmoplantar, Diffuse , Genetics , Molecular Sequence Data , Mutation , PedigreeABSTRACT
The association of tylosis with esophageal cancer has been extensively reported but association with gastric cancer is rare. We report a 55-year-old man with familial tylosis and carcinoma of the stomach for which radical gastrectomy was done. Repeat endoscopy 3 years later is normal.
Subject(s)
Adenocarcinoma/complications , Humans , Keratoderma, Palmoplantar, Diffuse/complications , Male , Middle Aged , Stomach Neoplasms/complicationsABSTRACT
Se presenta el caso de una paciente de 26 años de edad que presenta una queratodermia palmoplantar. Aunque las imágenes histopatológicas son comunes a otras queratodermias, las características clínicas y genéticas permiten llegar al diagnóstico de enfermedad de Thost-Unna, considerada por el International Working Group una histodisplasia. La frecuencia de aparición es indeterminada en nuestro país
Subject(s)
Humans , Female , Adult , Acitretin , Etretinate , Keratoderma, Palmoplantar, Diffuse , Acitretin , Biotin , Etretinate , Fetus , Keratins , Keratoderma, Palmoplantar, Diffuse , PregnancyABSTRACT
Relato de caso de ceratodermia palmoplantar e periorificial mutilante, síndrome de Olmsted, genodermatose rara, de transmissäo possivelmente autossômica dominante. A peculiar localizaçäo de lesöes ceratóticas periorificiais permitiu a individualizaçäo dessa entidade entre várias síndromes clinicamente semelhantes
Subject(s)
Humans , Child , Amputation, Traumatic/complications , Keratoderma, Palmoplantar, Diffuse/genetics , Oral Manifestations , SyndromeABSTRACT
Presentamos un caso de queratodermia punteada palmoplantar hereditaria con transmisión autosómica dominante no asociada a otras malformaciones. Siete miembros de la familia estaban afectados. Proponemos un esquema de clasificación de este tipo de queratodermias, de acuerdo con su modo de herencia, la forma clínica en aisladas y asociadas, y la histopatología. La dermatosis de la paciente puede corresponder a una forma monosintomática de Buschke-Fisher-Brauer
Subject(s)
Humans , Female , Adult , Foot Dermatoses/congenital , Hand Dermatoses/congenital , Keratoderma, Palmoplantar, Diffuse/genetics , Foot Dermatoses/classification , Foot Dermatoses/pathology , Hand Dermatoses/classification , Hand Dermatoses/pathology , Keratoderma, Palmoplantar, Diffuse/classification , Keratoderma, Palmoplantar, Diffuse/diagnosisABSTRACT
Dentro del grupo de la queratodermias palmo-plantares, con padrón hereditario autosómico recesivo, se describe el síndrome de Papillon-lefevre, asociado entre otras anomalias con alteraciones dentales y calcificaciones intracraneales. Reportamos el caso de dos familias afectadas con el sindrome, hacemos una breve revisón de la literatura, estudio genético-clínico de las familias, y se recalca la importancia del consejo genético, como forma de prevención.