ABSTRACT
El tumor de células granulares cutáneo (TCGC) constituye una neoplasia benigna que puede presentarse en la infancia como un nódulo asintomático. La malignización no se ha descrito en niños, pero su aspecto clínico inespecífico obliga a realizar un diagnóstico diferencial con otras lesiones cutáneas comunes en la infancia junto a la realización de un estudio histológico confirmatorio. Cuando se presentan lesiones múltiples se ha descrito su asociación a numerosos defectos corporales y enfermedades sistémicas como el síndrome de Noonan o la neurofibromatosis, por lo que su conocimiento puede ser un marcador de riesgo que permita al dermatólogo y al pediatra descubrir otras anomalías asociadas. Realizamos una revisión del TCGC en la infancia (AU)
The cutaneous granular cell tumor (CGCT) is a benign neoplasm ocasionally present in children as an asymptomatic nodule. Malignant CGCT have not been described in childhood by now, but the unspecific clinical appearence of the tumor induce to a wide differential diagnoses and a biopsy ismandatory. When multiple CGCT are developed, dermatologist and pediatrician must perform a complete physical examination to rule out the presence of the systemic defects previously reported in association with CGCT as Noonan syndrome and neurofibromatosis. We review the literature on this topic (AU)
Subject(s)
Humans , Female , Child , Granular Cell Tumor/diagnosis , Skin Neoplasms/diagnosis , Neurofibromatoses/diagnosis , Diagnosis, Differential , Noonan Syndrome/diagnosis , LEOPARD Syndrome/diagnosisABSTRACT
Longitudinal as well as cross-sectional studies have shown variations with age in heritability estimates for body dimensions from infancy to adulthood, even though the patterns of variation are not completely clear. Further study on this subject is of great interest and may help obesity interventions for preventing or treating obesity in children. Therefore, the aim of the present study is to analyse the changes in the genetic and environmental architecture of 8 body linearity and obesity-related phenotypes during the growth process in a cross-sectional sample of 1018 nuclear families from the province of Biscay (Basque Country, Spain). The contribution of additive genetic effects to the variation of the analysed traits was estimated by a variance component analysis using the SOLAR program. Moderate to high heritability estimates were obtained for all 8 anthropometric phenotypes (38.23-65.98%). The heritability values show an increasing trend with age and in the course of the entire ontogenetic development two age periods were remarkable. At 7(+)-8(+) years of age a strong increase in heritability estimates was found for all the anthropometric phenotypes, except for the sum of skinfolds (SF6), reflecting the biological significance of genes during mid-childhood. During puberty, most of the obesity related phenotypes showed their highest heritability values while linear measurements and weight presented a decrease in the genetic contributions. In conclusion, this study confirms that additive genetic influences have a considerable effect on body linearity and obesity-related traits throughout the growth period and that mid-childhood and puberty are very sensitive periods in human life cycle.
Subject(s)
Body Height/genetics , Body Weight/genetics , Growth and Development/genetics , Obesity/genetics , Adiposity/genetics , Adolescent , Adult , Child , Child, Preschool , Cross-Sectional Studies , Female , Gene-Environment Interaction , Humans , Male , Middle Aged , Phenotype , Puberty/genetics , Spain , Young AdultSubject(s)
Keratosis/pathology , Lichenoid Eruptions/pathology , Aged , Chronic Disease , Humans , MaleABSTRACT
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Subject(s)
Humans , Male , Aged , Keratosis/diagnosis , Lichenoid Eruptions/diagnosis , Purpura/complications , Acitretin/therapeutic useABSTRACT
Galli-Galli disease is a rare genodermatosis currently regarded as an acantholytic variant of Dowling-Degos disease. The 2 diseases have the same clinical features: reticular hyperpigmented macules in the great skin folds, erythematous scaly papules and plaques, comedo-like lesions, and pitted perioral scars, and the only differentiating characteristic is the histological finding of acantholysis, usually without dyskeratosis. We describe the case of a patient with hyperpigmented papules in the skin folds as the only sign of Galli-Galli disease, and we present a review of the literature.
Subject(s)
Acantholysis/diagnosis , Hyperpigmentation/diagnosis , Lichenoid Eruptions/diagnosis , Acantholysis/genetics , Acantholysis/pathology , Adult , Buttocks , Condylomata Acuminata/diagnosis , Diagnostic Errors , Female , Genital Neoplasms, Female/diagnosis , Groin , Humans , Hyperpigmentation/genetics , Hyperpigmentation/pathology , Lichenoid Eruptions/genetics , Lichenoid Eruptions/pathology , NeckABSTRACT
La enfermedad de Galli-Galli (EGG) es una genodermatosis rara considerada actualmente como la variante acantolítica de la enfermedad de Dowling-Degos (EDD), con la que comparte sus manifestaciones clínicas: hiperpigmentación reticular en grandes pliegues cutáneos, pápulas y placas eritemato-descamativas, lesiones tipo comedón y cicatrices acneiformes peribucales. El hallazgo histológico de acantólisis, generalmente en ausencia de disqueratosis, constituye el único elemento diferenciador de ambas. Resumen: Presentamos el caso de una paciente con pápulas flexurales hiperpigmentadas en pliegues como único hallazgo de EGG y revisamos la literatura (AU)
Galli-Galli disease is a rare genodermatosis currently regarded as an acantholytic variant of Dowling-Degos disease. The 2 diseases have the same clinical features: reticular hyperpigmented macules in the great skin folds, erythematous scaly papules and plaques, comedo-like lesions, and pitted perioral scars, and the only differentiating characteristic is the histological finding of acantholysis, usually without dyskeratosis. We describe the case of a patient with hyperpigmented papules in the skin folds as the only sign of Galli-Galli disease, and we present a review of the literature (AU)
Subject(s)
Humans , Female , Adult , Lichenoid Eruptions/complications , Lichenoid Eruptions/diagnosis , Lichenoid Eruptions/therapy , Acantholysis/complications , Acantholysis/diagnosis , Hyperpigmentation/complications , Hyperpigmentation/diagnosis , Hyperpigmentation/therapy , Acneiform Eruptions/complications , Acneiform Eruptions/diagnosis , Biopsy/methods , Fluorescent Antibody Technique, Direct/methodsABSTRACT
No disponible
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Subject(s)
Humans , Female , Middle Aged , Syringoma/complications , Lichen Planus/complications , AmyloidABSTRACT
The aim of the present study was to examine the heritability of 11 traits in a mixed-longitudinal sample of Indian siblings, and to determine whether heritability estimates vary during the growth period and whether they are influenced by sex. The sample consisted of 245 brothers and 213 sisters from 138 nuclear families living in a semi-urban area in Kolkata, India. The age ranged between 5 and 19 years. The traits were standardised for age and sex using standard deviation scores (SDS) produced by the LMS method (Cole, T.J., 1988. Fitting smoothed centile curves to reference data. J. R. Stat. Soc. A 151, 385-418). The standard deviation scores were analysed by PCA. The two factors with eigenvalues above 1 explained 77.3% of the variance; they showed a high level of pleiotropism present among the studied traits and represented body lengths (PC1) and body weight and breadths (PC2). The heritability between all types of siblings (irrespective of sex) for the PC1 and PC2 was estimated. The heritability between various pairs of siblings showed variations along the whole ontogenetic period studied. During the childhood and pre-pubertal period, heritability between brothers, brother-sister pairs and any sibling pairs was mostly constant, with small and non-significant variations. All the pairs showed the lowest degree of heritability during puberty for PC1 but not for PC2, with significant changes of heritability estimates between adolescence and adulthood, in most of the analysed sibling pairs and in both PC factors. The highest heritability was generally observed at the end of the examined growth period in all pairs. A significant effect of sex on heritability was only detected for PC2 at 11 years of age.
Subject(s)
Aging , Multifactorial Inheritance/genetics , Sex Characteristics , Siblings , Adolescent , Body Height/genetics , Body Weight/genetics , Child , Child, Preschool , Female , Humans , India , Longitudinal Studies , Male , Young AdultABSTRACT
Chronic intestinal pseudoobstruction (CIPO) is a rare entity characterized by recurrent clinical episodes of intestinal obstruction in which no mechanical cause is identified. There are multiple causes for this syndrome but two main groups can be distinguished: a) secondary to a systemic non-gastrointestinal disease; and b) primary or idiopathic originated from alterations in the components of the intestinal wall. The latter forms are the most uncommon and their diagnosis is generally difficult. In the present article, we describe nine patients with CIPO that were diagnosed in our center over the last six years. Four of them were diagnosed with primary or idiopathic form of CIPO and another four were clearly secondary to a systemic disease. The ninth case, which was initially diagnosed as secondary, is probably also a primary form of the disease. The number of patients diagnosed in our center, even thought small, makes us to hypothesize that the prevalence of CIPO is probably greater than is generally believed and that the reasons of its rarity are the incomplete understanding of its physiopathology and the difficulties to achieve a correct diagnosis.
Subject(s)
Intestinal Pseudo-Obstruction/diagnosis , Muscle, Smooth/physiopathology , Neuromuscular Diseases/complications , Actins/deficiency , Adult , Chronic Disease , Colectomy , Constipation/etiology , Female , Gastrointestinal Transit , Humans , Ileostomy , Intestinal Pseudo-Obstruction/epidemiology , Intestinal Pseudo-Obstruction/etiology , Intestinal Pseudo-Obstruction/physiopathology , Intestinal Pseudo-Obstruction/surgery , Laparoscopy , Manometry , Middle Aged , Muscular Diseases/complications , Muscular Diseases/diagnosis , Puerperal Disorders/etiology , Scleroderma, Systemic/complicationsABSTRACT
Chronic intestinal pseudoobstruction (CIPO) is a rare entitycharacterized by recurrent clinical episodes of intestinal obstructionin which no mechanical cause is identified. There are multiplecauses for this syndrome but two main groups can be distinguished:a) secondary to a systemic non-gastrointestinal disease;and b) primary or idiopathic originated from alterations in thecomponents of the intestinal wall. The latter forms are the mostuncommon and their diagnosis is generally difficult. In the presentarticle, we describe nine patients with CIPO that were diagnosedin our center over the last six years. Four of them were diagnosedwith primary or idiopathic form of CIPO and another four wereclearly secondary to a systemic disease. The ninth case, whichwas initially diagnosed as secondary, is probably also a primaryform of the disease. The number of patients diagnosed in our center,even thought small, makes us to hypothesize that the prevalenceof CIPO is probably greater than is generally believed andthat the reasons of its rarity are the incomplete understanding ofits physiopathology and the difficulties to achieve a correct diagnosis(AU)
Subject(s)
Humans , Female , Adult , Middle Aged , Intestinal Pseudo-Obstruction/diagnosis , Muscle, Smooth/physiopathology , Gastrointestinal Transit , Ileostomy/methods , Neuromuscular Diseases/complications , Scleroderma, Systemic/complications , Actins/deficiency , Chronic Disease , Colectomy/methods , Constipation/etiology , Intestinal Pseudo-Obstruction/epidemiology , Intestinal Pseudo-Obstruction/physiopathology , Intestinal Pseudo-Obstruction/surgery , Puerperal Disorders/etiology , Laparoscopy/methods , Manometry/methodsABSTRACT
El melanoma subungueal sufre con frecuencia un importante retraso en el diagnóstico.Presentamos el caso de una paciente con cambios ungueales distróficos que fueron diagnosticados en nuestro Servicio como onicomicosis, debido a laclínica y al cultivo de hongos positivo, pero que, al realizar una biopsia, dada la mala respuesta al tratamiento antifúngico, mostró una histología demelanoma lentiginoso acral con avanzada invasión local.En el siguiente artículo se revisan las principales características clínicas que pueden orientarnos hacia el diagnóstico precoz del melanoma subungueal,así como la utilidad de la dermatoscopia en el diagnóstico de esta neoplasia; siempre teniendo en cuenta que el diagnóstico definitivo se establece pormedio de la biopsia (AU)
Diagnosis of subungual melanoma is usually difficult and often is a delayed diagnosis. A patient with nail dystrophy that was diagnosed as a onychomicosisby means of mycological culture is reported. The patient don´t responded to the treatment during three weeks, so, we made a biopsy that showedthe diagnosis of acral lentiginous melanoma.In this article, we review the world literature on subungual melanoma and arranged the available information in a system for the clinical detection ofsubungual melanoma. We believe that dermoscopic examination of the nail plate in cases of melanonychia provides useful information that couldhelp to decide if a nail apparatus biopsy should be performed; however, the absolute diagnosis of subungual melanoma is made by means of a biopsy (AU)
Subject(s)
Humans , Female , Aged , Nail Diseases/diagnosis , Skin Neoplasms/diagnosis , Melanoma/diagnosis , Nail Diseases/surgery , Skin Neoplasms/surgery , Melanoma/surgeryABSTRACT
El carcinoma de Merkel es un tumor cutáneo primario de origen neuroendocrino poco frecuente y altamente agresivo tanto a nivel local como a distancia.Su aparición se ha asociado a múltiples etiologías entre las que destaca la exposición a la radiación ultravioleta. Si bien su diagnóstico se basaen los hallazgos clínicos e histológicos, la inmunohistoquímica resulta útil en la confirmación diagnóstica. Debido a su agresividad y mal pronósticoaún hoy no existe un tratamiento estandarizado. Presentamos el caso de una paciente con carcinoma de Merkel de gran tamaño en extremidad inferiorderecha y positividad en la técnica del ganglio centinela, revisando las técnicas diagnósticas y terapéuticas empleadas actualmente en el manejode este tumor (AU)
Merkel cell carcinoma is an inusual and aggressive primary cutaneous tumor with neuroendocrine features. Several etiological factors have been proposedspecially ultraviolet radiation exposition. Although its clinical presentation and characteristic histology are usually enough, immunochemistryfeatures are very helpful to make an accuracy diagnosis. Because of its agressive behaviour and bad outcome there are not standard therapeutic proceduresestablished nowadays. We present a case of a patient with a Merkel cell carcinoma in right lower limb. Sentinel lymph node procedure waspositive. We make a revision of diagnostic and therapeutic procedures used currently (AU)
Subject(s)
Humans , Female , Aged, 80 and over , Carcinoma, Merkel Cell/pathology , Skin Neoplasms/pathology , Neuroendocrine Tumors/pathology , Sentinel Lymph Node Biopsy , Lymph Node Excision , Thigh/pathologyABSTRACT
The anthropometric somatotype is a quantitative description of body shape and composition. Familial studies indicate the existence of a familial resemblance for this phenotype and they suggest a substantial action by genetic factors on this aggregation. The aim of this study is to examine the degree of familial resemblance of the somatotype components and of a factor of shape, in a sample of Biscay nuclear families (Basque Country, Spain). One thousand three hundred and thirty nuclear families were analysed. The anthropometric somatotype components [Carter, J.E.L., Heath, B.H., 1990. Somatotyping. Development and applications. Cambridge University Press, Cambridge, p. 503] were computed. Each component was fitted for the other two through a stepwise multiple regression, and also fitted through the LMS method [Cole, T., 1988. Fitting smoothed centile curves to reference data. J. Roy. Stat. Soc. 151, 385-418] in order to eliminate the age, sex and generation effects. The three raw components were introduced in a PCA from which a shape factor (PC1) was extracted for each generation. The correlations analysis was performed with the SEGPATH package [Province, M.A., Rao, D.C., 1995. General purpose model and computer programme for combined segregation and path analysis (SEGPATH): automatically creating computer from symbolic language model specifications. Genet. Epidemiol. 12, 203-219]. A general model of transmission and nine reduced models were tested. Maximal heritability was estimated with the formula of [Rice, T., Warwick, D.E., Gagnon, J., Bouchard, C., Leon, A.S., Skinner, J.S., Wilmore, J.H., Rao, D.C., 1997. Familial resemblance for body composition measures: the HERITAGE family study. Obes. Res. 5, 557-562]. The correlations were higher between offspring than in parents and offspring and a significant resemblance between mating partners existed. Maximum heritabilities were 55%, 52% and 46% for endomorphy, mesomorphy and ectomorphy, respectively, and 52% for PC1. In conclusion, the somatotype presents a moderate degree of familial aggregation. For the somatotype components, as well as for PC1, the degree of familial resemblance depends on age. The sex only has a significant effect on ectomorphy.
Subject(s)
Somatotypes/genetics , Adolescent , Adult , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Nuclear Family , Sex Characteristics , Siblings , SpainABSTRACT
BACKGROUND: Longitudinal and semi-longitudinal growth studies on siblings reflecting heritability changes during growth are very scarce. Moreover, studies of variables other than height, weight and BMI are virtually non-existent. AIM: The study compared changes in the heritability of six body lengths, four body breadths, and three indices between ages 4 and 19 years on the basis of a mixed-longitudinal sample of siblings, and examined whether heritability estimates change during the growth period. The data consisted of 238 brothers and 214 sisters from 134 middle-class nuclear families living in Kolkata (India). The analysis of sibling correlation was performed by maximum likelihood. The age-related patterns of heritabilities of the various traits were described by a cubic spline. RESULTS: The heritability was very high and significant in most traits, and at all considered ages. Mean heritability in the 10 morphometric traits was 69.3%, which was higher than the heritability values for the three indices. CONCLUSIONS: These results confirmed the existence of age-related trends in heritability of the considered morphometric traits. The sharp decline of the heritabilities at adolescence in most of the morphometric traits, and the acromio-iliac index in particular, may be due to the large inter-individual variation in the age at which the adolescent growth spurt is reached in both sexes.
Subject(s)
Body Size/genetics , Body Size/physiology , Growth/genetics , Growth/physiology , Heredity , Adolescent , Age Factors , Child , Child, Preschool , Family , Female , Humans , India , Longitudinal Studies , Male , SiblingsABSTRACT
BACKGROUND: Even though some studies have considered that sibling resemblance remains constant throughout the life cycle, several investigations emphasize the importance of age and its interactions with genetic and environmental factors in determining sibling similarity in several bodily traits. In fact, the study of age changes in familial resemblance is of great importance for the analysis of certain sources of variation observed in growth processes. AIM: The study examined sibling resemblance for height, weight and body mass index (BMI) in a mixed longitudinal sample from West Bengal, ages 2-19 years, in order to analyse the variations with age of the sibling resemblance for these phenotypes during growth. SAMPLE AND METHODS: Two hundred and forty-five brothers and 213 sisters from 138 middle-class nuclear families living in a semi-urban area of South Kolkata, India were analysed. The analysis of sibling resemblance was performed through correlations estimated by the maximum-likelihood method. The patterns of different trends of sibling resemblance with age were examined by fitting a cubic non-linear regression to the observed correlations. RESULTS: The results show clear variations with age in the sibling resemblance for the traits height and weight, though to a lesser extent for BMI. In general, we found the highest correlation values during the period of infancy, a remarkable decrease during puberty, and a trend of increase towards the end of the growth cycle. CONCLUSION: The study confirms the effect of age on the degree of similarity among siblings for height, weight and BMI in the sample. The sharp decline of correlation at adolescence can be interpreted in terms of the individual variation in age of reaching the adolescent growth spurt.
Subject(s)
Aging , Body Height , Body Mass Index , Body Weight , Siblings , Adolescent , Adult , Child , Child, Preschool , Female , Humans , India , Longitudinal Studies , MaleABSTRACT
The present research analyses a cross-sectional sample of 284 individuals (86 fathers, 86 mothers, 54 sons and 58 daughters) in 86 nuclear families living in the province of Biscay (Basque Country, Spain), with the aim of estimating both transmissible and non-transmissible components acting on familial resemblance for the maximum dynamometric strength of both hands, by means of a path analysis. Standardised data of each generation and sex were adjusted to a BETA model of path analysis independent of sex effects, allowing nevertheless the possibility to differentiate between transmissible (genetic and cultural) and non-transmissible (environmental) components acting on the observed phenotypic variance in Biscayan offspring. The results supported the full model of familial transmission for the two variables, in addition to other reduced models that gave rise to transmission effects regardless of any influence from the siblings' shared environment on the environmental transmitted component from their parents (b = 0), and without social homogamy between mates (u = 0). The most parsimonious model created, based on the previous ones, was accepted for both traits. The total transmissible variance (t2) explained between 21% (right hand) and 44% (left hand) of the observed phenotypic variation. These values are close to those from the literature (t2 = 37%). However, we should take into account that these kinds of estimations are specific for each group or population.
Subject(s)
Hand Strength , Inheritance Patterns , Models, Theoretical , Adult , Child , Child, Preschool , Cross-Sectional Studies , Cultural Characteristics , Environment , Female , Functional Laterality , Humans , Male , Middle Aged , Pedigree , Phenotype , Sex Factors , SpainABSTRACT
BACKGROUND: occasionally, the risk of malignant transformation may be difficult to establish in adenomatous polyps due to the fact that they contain areas with variable grades of dysplasia. A measurement of tissue tumor markers may be useful to recognize these adenomas. OBJECTIVES: the aims of this study were: to established firstly the relationship between carbohydrate antigen 19.9 (CA-19.9) content in the colorectal mucosa and the characteristics of polyps, and secondly, the diagnostic value of the formers measurement. PATIENTS AND METHODS: tissue CA-19.9 concentration was measured in 155 colorectal samples obtained from 145 patients (21 normal mucosa; 113 adenomatous polyps; 21 adenocarcinoma). Cytosol CA-19.9 content was determined by enzyme-linked immunoadsorbant assay, and the measurement of this protein was achieved by quantitative assay. Tissue samples were also processed for histological examination. RESULTS: we demonstrated that CA-19.9 levels in adenomatous polyps and adenocarcinomas were significantly higher than in the normal mucosa. These levels varied significantly according to polyp size, histological type, and grade of dysplasia. CA-19.9 contents were higher in polyps with a high risk of malignant transformation than in those with a low risk of severe dysplasia. The cut-off value 214 U/mg of protein properly differentiated both types of risk. The area under the receiver operating characteristic (ROC) curves showed that cytosol CA-19.9 levels allow classifying polyps according to their histological features. CONCLUSIONS: we concluded that the measurement of CA-19.9 content in adenomatous polyps may be useful to classify these tumors and confirm the feasibility to separate adenomas into two groups: low and high risk of malignant change.
