A case report on CREST syndrome with acrodermatitis

Acrodermatitis enteropathica (AE) is an autosomal recessive disorder, which is characterized by mutation affecting intestinal zinc absorption, subsequently leading to hypozincemia. In 20% of the cases, occurs the triad comprising dermatitis, alopecia and intractable diarrhoea as its diagnostic hallmark. The major manifestations include dermatitis, diarrhoea, alopecia, mood changes, anorexia, neurological disturbances, growth retardation, weight loss and recurrent infections. It is caused by mutations in the gene that encodes a membrane protein that binds zinc. Zinc is an essential coenzyme in metal enzymes (like ALP), which is important structural component of gene regulatory proteins and gene expression. Calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome is a variant systemic sclerosis characterized by the presence of calcinosis, Raynaud抯 phenomenon, oesophageal motility abnormalities, sclerodactyly and telangiectasia antinuclear antibodies recognizing chromosomal centromere proteins are characteristic of CREST syndrome and are present in more than 50% cases. Circulating antibodies against anti-nucleolar antigens are present in most patients with systemic scleroderma. Alterations of the blood vessels and induction of fibroblasts by potent mediators plays an important role in the early phase of scleroderma. Here, we present a case of 12-year-old girl child with insidious onset gradually progressive symptoms of dryness in both lower limbs, bluish discoloration of the fingers on exposure to cold, skin tightening over the face and hands, whitish pigmentation over the scalp and neck, whitish nodules progressing to ulceration over the posterior aspects of both elbows and difficulty in eating- both solids and liquids for 1-year duration.

Scleroderma and dental implications: a case series

Systemic sclerosis (SSC) is a rare, systemic autoimmune disease of unknown etiology, which is characterized by fibrosis of visceral organs, skin and blood vessels. This disorder can be localized or systemic. It is more common in women with estimated prevalence is 250 cases in a million. Oral manifestations include xerostomia, periodontitis, decayed tooth etc. Radiographically generalized loss of bone with resorption of the mandibular angle and coronoid process can be evident in patients with scleroderma. Pressure of fibrous mucocutaneous tissues is thought to be the cause of the resorption. Decreased number of wrinkles due to sclerosis and distinct facial features because of the atrophy of ala nasi are among common clinical characteristics of this condition. The aim of this case series is to present two female patients with scleroderma who presented with signs of oral manifestations along with resorption at the angle of mandible, as well as widening of the periodontal space.

Síndrome de CREST asociado a shock séptico por osteomielitis hematógena aguda / CREST syndrome associated with septic shock due to acute osteomyelitis hematologic

El síndrome de CREST (calcinosis, fenómeno de Raynaud, dismotilidad esofágica, esclerodactilia, telangiectasias) forma parte del espectro clínico de la esclerosis sistémica, enfermedad del colágeno, denominada en la clasificación clínica como esclerodermia cutánea limitada. Se presenta un paciente masculino de 53 años, raza blanca y procedencia rural, que desde hace 10 años presenta poliartritis, cambios en zonas distales de la piel que subyace adherida al hueso, falanges de manos y pies, fenómeno de Raynaud, aparición de nódulos subcutáneos de pequeño tamaño en varias localizaciones, que luego se tornan calcificaciones. Llega con una úlcera en el quinto metatarsiano del pie izquierdo, de 14 meses de evolución con varios ingresos para tratamiento de la lesión con resolución aparente y luego recidiva. Desarrolla un cuadro de osteomielitis hematógena aguda con shock séptico. El tratamiento multidisciplinario y oportuno permitió la sobrevida del paciente(AU)

CREST's Syndrome (calcinosis, Raynaud's phenomenon, dysmotilitic esofhagical, sclerodactilitys, telanghiectasis), the form departs from the clinical spectrum of the Systemic Sclerosis, disease of collagen, named in the clinical classification like cutaneous limited scleroderma. Patient, masculine of 53 years, white race, peasant procedence. 10 years ago with changes at zones level distally of the skin that underlies once the bone was adhered, phalanges of hands and feet, Raynaud's phenomenon so big a child's appearing of subcutaneous nodules at several locations, that next calcifications appear. Ulcer in metatarsal foot left-hand fifth, of 14 months of evolution with multiple entrances for treatment of the lesion with apparent resolution and next relapse. Develop acute osteomyelitis hematologic with septic shock. The multi-disciplinary and opportune treatment enabled the patient's over-life(AU)

Estudio Retrospectivo: Características Clínicas de la Esclerosis Sistémica en Pacientes de los Hospitales Vicente Corral Moscoso y José Carrasco Arteaga. Enero 2008 ­ Junio 2015 / Retrospective Research: Clinical Features of Systemic Sclerosis in Patients from Vicente Corral Moscoso and José Carrasco Arteaga Hospitals. January 2008 - June 2015

INTRODUCCIÓN: La esclerosis sistémica es una patología crónica del tejido conectivo; de etiología desconocida y caracterizada por presentar vasculopatía, autoinmunidad y fibrosis. Genera importantes repercusiones socio sanitarias y hasta la actualidad no tiene cura. El objetivo de la presente investigación fue determinar las características clínicas de esa enfermedad en la población local. MÉTODOS: Se realizó un estudio de tipo descriptivo retrospectivo. El universo incluyó a 58 pacientes diagnosticados de esclerosis sistémica en el Hospital Vicente Corral Moscoso y José Carrasco Arteaga durante el período comprendido entre Enero 2008 ­ Julio 2015. La información fue recopilada de las historias clínicas digitales y se realizó estadística descriptiva utilizando el programa SPSS versión 20.0. RESULTADOS: La esclerosis sistémica fue más común en el sexo femenino (relación hombre ­ mujer: 1/8.6), el subtipo limitado fue la forma de presentación principal. Las manifestaciones clínicas más frecuentes fueron las cutáneas (93.1%), seguidas de las osteomusculares (84.5%) y el fenómeno de Raynaud (81%). Los anticuerpos antinucleares fueron positivos en más del 70% de los pacientes. CONCLUSIÓN: La esclerosis sistémica es una enfermedad crónica con afección multiorgánica. El conocimiento de las distintas manifestaciones clínicas de esta patología en la población local, facilitará el diagnóstico oportuno y la instauración de un tratamiento apropiado, con el objetivo de mejorar la calidad de vida del paciente y prevenir complicaciones.(au)

BACKGROUND: Systemic sclerosis is a chronic connective tissue disease; of unknown etiology and characterized by vasculopathy, autoimmunity and fibrosis. The aim of this study was to determine the clinical features of this pathology in local population. METHODS: A retrospective descriptive study was performed. The universe included 58 patients with systemic sclerosis at Vicente Corral Moscoso Hospital and Hospital of Specialties José Carrasco Arteaga during January 2008 - July 2015. The information was compiled from medical records; descriptive statistics were performed using the statistical program SPSS version 20.0. RESULTS: Systemic sclerosis was more common in the females (male - female ratio: 1/8.6), the limited subtype was the main presentation form. The most frequent clinical features were skin disorders (93.1%), followed by osteomuscular manifestations (84.5%) and Raynaud's syndrome (81%). Antinuclear antibodies were positive in more than 70% of patients. CONCLUSION: Systemic sclerosis is a chronic entity with multisystem involvement. The knowledge of the different clinical manifestations will facilitate the opportune diagnosis and the establishment of an appropriate treatment; with the purpose of improve the quality of life and preventing complications.(au)

Manejo prostodóntico convencional de una paciente con síndrome de CREST: reporte de caso / Conventional prosthodontics management of a patient with Crest syndrome: case report

El síndrome de CREST se caracteriza por calcinosis, síndrome de Raynaud, dismotilidad esofágica, esclerodactilia y telangiectasia. Presenta signos y síntomas en el sistema estomatognático que merecen consideración en un tratamiento. El objetivo del presente artículo fue reportar las manifestaciones orales de un caso de síndrome de CREST y describir su tratamiento protésico realizado en el Departamento de Rehabilitación Oral de la Universidad Nacional de Colombia. Se reporta una paciente mujer de 42 años, con diagnóstico de síndrome de CREST por su médico tratante, que acude a la facultad de odontología para un tratamiento restaurador. El manejo prostodóntico incluyó coronas, prótesis parcial fija metal-cerámicas y prótesis parcial removible. Los resultados obtenidos nos permiten recomendar las alternativas restaurativas convencionales similares a las usadas en un paciente sin esta condición sistémica, pero manteniendo un control estricto.

The CREST syndrome is characterized by calcinosis, Raynaud's syndrome, esophageal dysmotility, sclerodactyly, and telangiectasia. It has signs and symptoms in the stomatognathic system that deserve consideration in its treatment. The objective of this paper is to report the oral manifestations of a case of CREST syndrome and describe the prosthetic treatment performed in the Department of Oral Rehabilitation in the National University of Colombia. The case is presented of a patient female aged 42 years, diagnosed with CREST syndrome by the treating doctor. She came to the Faculty of Dentistry for restorative treatment. The prosthodontic management included metal-ceramic crowns, fixed partial denture, and removable partial denture. The results demonstrate that conventional restorative alternatives, similar to that used in a patient without this systemic condition, while maintaining strict control of it, can be recommended.

Artropatía de Jaccoud y fibrosis pulmonar en síndrome CREST / Jaccoud’s arthropathy and pulmonary fibrosis in CREST syndrome

Se describe el caso de una paciente de 48 años de edad con diagnóstico de síndrome CREST incompleto (variante de esclerosis sistémica limitada), en quien se documenta la presencia de artropatía de Jaccoud de las manos y compromiso pulmonar intersticial por fibrosis pulmonar tipo neumonía intersticial usual, con positividad para factor reumatoide y anticuerpos contra el péptido citrulinado.Palabras clave: síndrome CREST, artropatía, enfermedad pulmonar intersticial, fibrosis pulmonar.

We report a case of a 48 years old patient with diagnosis of incomplete CREST syndrome (variant limited systemic sclerosis) in who we documented the presence of Jaccoud’s arthropathy of the hands and pulmonary involvement by pulmonary fibrosis type usual interstitial pneumonia, with positivity for rheumatoid factor and anti-cyclic citrullinated peptide antibody.Key words: CREST syndrome, joint disease, interstitial lung disease, pulmonary fibrosis.

A Case of CREST Syndrome with Extensive Calcinosis Cutis / 대한피부과학회지

CREST syndrome is an indolent form of systemic sclerosis and refers to the manifestations of calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasias. We report a typical case of CREST syndrome in a 67-year-old woman, who presented with extensive, hard, calcified nodules and plaques on her shins, fingers, pelvis, and shoulder.

Study on the Clonality of Endothelial Cell Proliferation in Plexiform Lesions in Patients with Pulmonary Hypertension Associated with CREST Syndrome / 결핵

BACKGROUND: The CREST syndrome is an indolent form of progressive systemic sclerosis. Although its clinical progress is indolent, pulmonary hypertension(PH) associated with CREST syndrome have grave prognosis with over 40 percent mortality rate at 2 year follow-up. But the pathogenesis of pulmonary hypertension in this disease is not known, and classified as either primary or secondary PH. Clonality of endothelial cell proliferation in plexiform lesion is a molecular marker which allows distinction between primary and secondary PH. We performed this study to know whether the PH associated with CREST syndrome is a variant of primary PH or is a secondary PH. METHODS: We assessed the X-chromosome inactivation based on the methylation pattern of the human androgen-receptor gene by PCR(HUMARA). Endothelial cells in plexiform lesions from female patients(n=3) with PH associated with CREST syndrome were microdissected from paraffin blocks. Vascular smooth muscle cells and lung parenchyma were also microdissected for clonality studies. RESULTS: The proliferating endothelial cells in 14 plexiform lesions were all polyclonal. Similarly proliferated smooth muscle cells from 5 vessels with medial hypertrophy were also polyclonal. CONCLUSION: These results suggest that the pulmonary hypertension associated with CREST syndrome has different pathogenesis from primary PH and to be classified as secondary PH.

A Case of CREST Syndrome / 대한피부과학회지

No abstract available.