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BACKGROUND: Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare inherited skin disease caused by variants in the COL7A1 gene, coding for type VII collagen (C7), an important component of anchoring fibrils in the basement membrane of the epidermis. RDEB patients suffer from skin fragility starting with blister formation and evolving into chronic wounds, inflammation and skin fibrosis, with a high risk of developing aggressive skin carcinomas. Restricted therapeutic options are limited by the lack of in vitro models of defective wound healing in RDEB patients. RESULTS: In order to explore a more efficient, non-invasive in vitro model for RDEB studies, we obtained patient fibroblasts derived from discarded dressings) and examined their phenotypic features compared with fibroblasts derived from non-injured skin of RDEB and healthy-donor skin biopsies. Our results demonstrate that fibroblasts derived from RDEB chronic wounds (RDEB-CW) displayed characteristics of senescent cells, increased myofibroblast differentiation, and augmented levels of TGF-ß1 signaling components compared to fibroblasts derived from RDEB acute wounds and unaffected RDEB skin as well as skin from healthy-donors. Furthermore, RDEB-CW fibroblasts exhibited an increased pattern of inflammatory cytokine secretion (IL-1ß and IL-6) when compared with RDEB and control fibroblasts. Interestingly, these aberrant patterns were found specifically in RDEB-CW fibroblasts independent of the culturing method, since fibroblasts obtained from dressing of acute wounds displayed a phenotype more similar to fibroblasts obtained from RDEB normal skin biopsies. CONCLUSIONS: Our results show that in vitro cultured RDEB-CW fibroblasts maintain distinctive cellular and molecular characteristics resembling the inflammatory and fibrotic microenvironment observed in RDEB patients' chronic wounds. This work describes a novel, non-invasive and painless strategy to obtain human fibroblasts chronically subjected to an inflammatory and fibrotic environment, supporting their use as an accessible model for in vitro studies of RDEB wound healing pathogenesis. As such, this approach is well suited to testing new therapeutic strategies under controlled laboratory conditions.
Subject(s)
Humans , Epidermolysis Bullosa Dystrophica/genetics , Bandages , Cell Differentiation , Collagen Type VII/genetics , FibroblastsABSTRACT
Objective:To report 3 cases of rare subtypes of hereditary epidermolysis bullosa.Methods:Clinical data were collected from the probands and their relatives, whole-exome sequencing was performed to screen disease-causing mutations in the probands, and Sanger sequencing or qPCR was conducted to verify the mutations in patients and their relatives.Results:Case 1 mainly presented with linear red scars on the back, and the proband, her mother with similar clinical manifestations and her asymptomatic daughter all carried a mutation c.4573G>A (p.Gly1525Arg) in the COL7A1 gene. Case 2 presented with generalized reticular pigmentation all over the body and occasional blisters restricted to the hand and foot, and carried a de novo mutation c.74C>T (p.Pro25Leu) in the KRT5 gene. Case 3 presented with pigmentation abnormalities mainly located at the sun-exposed sites and incomplete syndactyly of the left hand, and carried homozygous deletion mutations in exons 2-6 of the FERMT1 gene, which were inherited from her asymptomatic parents. Case 1 was diagnosed with dominant dystrophic epidermolysis bullosa pruriginosa, case 2 was diagnosed with epidermolysis bullosa simplex with mottled pigmentation, and case 3 was diagnosed with Kindler epidermolysis bullosa. Conclusion:The clinical manifestations of epidermolysis bullosa vary greatly, and gene detection is very important for confirmation of diagnosis of its rare types.
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Calcinosis cutis is abnormal calcium deposition in the skin and subcutaneous tissues of the body. It is generally associated with autoimmune connective tissue disorders and in our case, it is systemic sclerosis. It most commonly occurs in the fingers presenting with pain and functional impairment. Here, we present a case of calcinosis cutis with systemic sclerosis in a teenage girl presented with bilateral gluteal pressure sores and multiple sites of calcium deposition like sacrum, upper limbs, knees and the face. We treated here with reconstructive surgery with Limberg flaps for the pressure ulcers with excision and primary closure of the other sites with calcium deposits.
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Caso clínico: femenino de 18 años con diagnóstico de epidermolisis ampollosa distrófica (EAD) quién desarrolló una neoformación nodular sobre una úlcera crónica. Se diagnosticó carcinoma epidermoide (CE) invasor al que se realizó resección. Sin embargo, 5 meses después del tratamiento quirúrgico presentó metástasis a ganglios, pulmón e hígado con desenlace fatal. Comentarios: el CE es la causa más importante de muerte en pacientes con EAD. Suele ser agresivo y metastásico. Se recomienda una vigilancia cada 3 a 6 meses para realizar diagnóstico y tratamiento oportunos (AU)
Case report: 18-year-old female patient with dystrophic epidermolysis bullosa (DEB) who developed a tumor over a chronic ulcer. She was diagnosed with invasive squamous cell carcinoma (SCC) and underwent surgical resection. However, 5 months later she presented metastases to the lymph nodes, lung and liver with a fatal outcome. Comments: SCC is the most important cause of death in patients with DEB. It is usually aggressive and metastatic. Surveillance every 3 to 6 months is recommended for prompt diagnosis and treatment (AU)
Subject(s)
Humans , Female , Adolescent , Skin Neoplasms/complications , Skin Ulcer/complications , Carcinoma, Squamous Cell/complications , Epidermolysis Bullosa Dystrophica/complications , Skin Neoplasms/surgery , Skin Neoplasms/pathology , Carcinoma, Squamous Cell/surgery , Carcinoma, Squamous Cell/pathology , Chronic Disease , Inguinal Canal , Liver Neoplasms/secondary , Lung Neoplasms/secondary , Abdominal Neoplasms/secondaryABSTRACT
@#Scrotal calcinosis is a rare condition with controversy surrounding its unclear etiopathogenesis. Several schools of thought have emerged from recent publications supported by histological findings seen in the respective cases reported. The recommendation of surgery as management, and its outcome, however, have remained the same throughout history. This paper reports a 36-year-old male who presented with gradually progressing multiple pruritic nodules over the scrotum who underwent wide excision with favorable outcome on follow up. Histological examination confirmed the diagnosis of scrotal calcinosis and showed evidence of intact epidermoid cysts that have undergone dystrophic calcification.
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Resumen: Este es un caso de dos pacientes femeninas fruto de un embarazo gemelar bicorial y biamniótico, con diagnóstico de epidermólisis bullosa congénita tipo distrófica, que se confirmó genéticamente con la mutación patogénica en el gen COL7A, una variante previamente no reportada y también llamada la variante Hallopeau-Siemens. Las pacientes fueron manejadas por un grupo médico interdisciplinario, enfocando el manejo en prevenir la aparición de nuevas lesiones y complicaciones, y en el manejo del dolor. Debido a la gravedad de las lesiones y las complicaciones asociadas, una de los pacientes murió. La otra está viva a los 8 meses de edad, sin complicaciones graves y con buen estado nutricional. En estos pacientes el tratamiento de las lesiones cutáneas es el pilar del manejo para reducir la morbimortalidad. El objetivo principal de este texto es proporcionar información para que los profesionales de la salud conozcan la enfermedad, pueda ser diagnosticada oportunamente y así brindar un tratamiento de apoyo a los pacientes y sus familias; y sensibilizar sobre una de las enfermedades clasificadas como huérfanas o raras en nuestro país.
Abstract: We present the case of two female patients from a dichorionic diamniotic twin pregnancy with diagnosis of congenital dystrophic epidermolysis bullosa at Clinica Universitaria Bolivariana, Medellín, Colombia. Molecular genetic testing confirmed a pathogenic mutation in the gene COL7A, a variant previously not reported and also called the Hallopeau-Siemens variant. Patients were followed by an interdisciplinary medical team focusing on prevention of new lesions, complications, and pain management. Because of the severity of the lesions and associated complications one of the patients died, the other one is 8-months-old without severe complications and well nutritional status. In these patients, treatment of skin lesions is the mainstay to reduce morbidity and mortality. The main purpose of this report is to provide information so that health professionals know the disease and it can be diagnosed opportunely and thus provide supportive treatment to patients and their families; and also sensitize health providers about one of the diseases listed as orphan or rare in our country.
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The prescription composition and the technology of a new type of specialized product - biologically active additive BAAhave been scientifically grounded. The pharmacological properties and functional orientation of the active principles of theformulation components of the dietary supplements were studied, which made it possible to determine the quantitative andqualitative composition of the formulation which has a synergistic effect on metabolic processes in the presence ofdeforming osteoarthrosis: bamboo extract, glucosamine and chondroitin, aloe vera extracts, leaves and grape seeds, vitaminand mineral composition with green tea extract, and the antioxidant complex "Cifrol-5". A production technology providinghigh consumer performance for the developed product was approved. Clinical trials involving two groups of women aged44-49 with deforming osteoarthritis of the knee joints confirmed the functional properties of the complex. The first groupreceived the BAA, the second was a control group. Changes in the control indicators were registered after dietary therapyor in clinically significant periods of patient recovery. The control indicators were joint soreness, skin, hair, and nailcondition, and the recovery time of postoperative sutures. The complex application of diet therapy and the basic treatmentfor dystrophic joint diseases and the rehabilitation measures of the postoperative period were shown to be effective. Inpatients, joint pain and pain index decreased, the fragility of nails and hair was reduced, the microcirculation of the nail bedimproved, and the healing time of the surgical sutures decreased. The consistency of quality indicators and consumerperformance was ensured by production certifications for the developed products within the requirements of internationalstandards of the ISO 9001 and 22000 series and GMP rules.
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Calcinosis cutis is an uncommon disorder and defined as the deposit of insoluble calcium salts in the skin. It is classified as dystrophic, metastatic, idiopathic, and iatrogenic according to etiology. The dystrophic type is the most common and occurs in the previously damaged tissue, including connective tissue diseases, panniculitis, inherited disorders, benign and malignant tumors, a variety of scarring caused by burn, radiation, trauma, surgery, and keloid. Treatment options are limited. Whereas medical therapy is usually not very effective, surgical intervention has shown to be beneficial and is indicated when painful masses, recurrent infection, ulcerations, functional impairment, and cosmetic concerns exist. Herein, we report two cases of dystrophic calcinosis cutis associated with longstanding, painful, ulcerated cutaneous lesions in the extremities successfully treated with surgical excision.
Subject(s)
Burns , Calcinosis , Calcium , Cicatrix , Connective Tissue Diseases , Extremities , Keloid , Panniculitis , Salts , Skin , UlcerABSTRACT
Surgical management of scoliosis in Neurofibromatosis type I may be challenging at times especially when dealing with dystrophic curves. We highlight the importance of meticulous study of the radiological imaging and careful pre-operative planning in a patient with dystrophic scoliosis. Key Words: neurofibromatosis scoliosis; dystrophic curve; rib-head excision
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ABSTRACT: Golden Retriever muscular dystrophy (GRMD) is the most representative model for studying Duchenne muscular dystrophy (DMD) in humans, owing its phenotypic expression. DMD is a recessive disorder linked to the X chromosome in which the loss of dystrophin induces progressive weakness and degeneration of the skeletal and cardiac muscles, which lead to replacement by connective and adipose tissues. Onset of clinical signs occurs between 2 and 5 years of age, and many patients die from heart or respiratory failure. The main studies concerning dystrophic Golden Retrievers (DGR) sought to elucidate the pathophysiology of the disease and its clinical implications to develop therapies and alternative treatments to improve the quality of life and increase longevity of DMD patients. This review presents an overview of relevant contributions of the DGR model for elucidating DMD in humans.
RESUMO: A distrofia muscular do Golden Retriever (DMGR) é o modelo mais representativo para o estudo da distrofia muscular de Duchenne (DMD) em humanos devido a sua expressão fenotípica. A DMD é uma desordem genética recessiva ligada ao cromossomo X onde a perda da distrofina induz fraqueza progressiva e degeneração do músculo esquelético e cardíaco conduzindo a substituição do músculo por tecido conjuntivo e adiposo. O início da doença ocorre entre 2 e 5 anos de idade e muitos pacientes morrem por insuficiência cardíaca ou respiratória. Os principais estudos realizados no Golden Retriever distrófico (GRD) buscam elucidar a fisiopatogenia da doença e suas implicações clínicas na tentativa de testar terapias e tratamentos alternativos para melhoria da qualidade de vida do paciente distrófico e aumentar sua longevidade. Esta revisão apresenta uma visão geral sobre relevante contribuição do modelo GRD para elucidar a DMD em humanos.
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Herein, we describe a case of uterine calcification in the uterus of a pig without pregnancy loss. The recipient underwent cloned embryo transfer and Cesarean section for safe delivery of cloned piglets. During the Cesarean section, 4 white, star-like, (2 × 2 × 2) cm, calcified structures were found within the endometrial cavity. Despite dystrophic calcification around the placenta, healthy cloned piglets were produced successfully. To our knowledge, this is the first reported case of dystrophic calcification occurring within the uterus in a pregnant pig.
Subject(s)
Female , Pregnancy , Cesarean Section , Clone Cells , Embryo Transfer , Miners , Placenta , Swine , UterusABSTRACT
BACKGROUND: Dystrophic calcification can occur in any soft tissue with the absence of a systemic mineral imbalance and is often associated with trauma, infection, or inflammation. It is easily found in the site of the heart and skeletal muscles and rarely appears in the head and neck area. CASE REPORT: We present a rare case of multiple calcified masses in the left masseter muscle of a 26-year-old female with a history of trauma in the area. In computed tomography, multiple radiopaque masses were observed inside the left masseter muscle and blood test results were normal. The calcified masses were diagnosed as dystrophic calcification and removed by surgery without any complications. CONCLUSION: Different types of calcifications may occur in the cheek area, and they need to be distinguished from dystrophic calcification. Thorough clinical examination and history taking is required together with blood testing and radiographic examinations.
Subject(s)
Adult , Female , Humans , Cheek , Head , Heart , Hematologic Tests , Inflammation , Masseter Muscle , Miners , Muscle, Skeletal , NeckABSTRACT
BACKGROUND: Patients with recessive dystrophic epidermolysis bullosa (RDEB) exhibit blisters and erosions since birth, causing pain, pruritus and various complications. RDEB affects quality of life (QoL) in physical, emotional and social aspects. Furthermore, interminable dressing changes and supportive therapies impose a significant economic burden on the patient's family. OBJECTIVE: We assessed the QoL and economic burden in patients with RDEB. METHODS: Sixteen patients with RDEB were surveyed to assess the QoL and economic burden. Patients answered questionnaires consisting of a visual analogue scale (VAS) on pain and pruritus, Skindex-29, Quality of Life in EB questionnaire (QOLEB), and the economic burden due to EB. RESULTS: Thirteen patients with RDEB completed the questionnaire. Female patients presented higher VAS, QOLEB and total Skindex-29 scores than male patients. Patients with RDEB showed severe levels of pruritus, which was more intolerable than pain. Mean VAS score on pain in RDEB was higher than in oral lichen planus and post-herpetic neuralgia. VAS score on pruritus was similar to those in chronic urticaria, atopic dermatitis, and prurigo nodularis. Compared with other dermatologic conditions, patients with RDEB were profoundly affected in all three scales of skindex-29. Mean "medical cost" in a month was $257.54 (USD) (+/-169.39) and mean "dressing cost" was $358.41 (USD) (+/-312.55), which was negatively related to patient age. CONCLUSION: RDEB had a profound impact on QoL and economic burden. Compared with other dermatologic diseases, RDEB showed severe symptoms and QoL was seriously impaired. Most patients sustained economic burdens, especially on preparing dressing materials. Younger patients experienced more economic burdens.
Subject(s)
Female , Humans , Male , Bandages , Blister , Dermatitis, Atopic , Epidermolysis Bullosa Dystrophica , Lichen Planus, Oral , Neuralgia , Parturition , Prurigo , Pruritus , Quality of Life , Urticaria , Weights and MeasuresABSTRACT
Peripheral ameloblastoma is a rare extraosseous counterpart of central ameloblastoma that occurs in soft tissues and may cause bone crest resorption. This study reports a peripheral ameloblastoma on the buccal gingiva of a 56-year-old man, which presented extensive squamous metaplasia areas, keratinization and dystrophic calcifications in the neoplastic islands. It is emphasized the need of a detailed imaging study and a long follow-up period to exclude bone involvement whenever peripheral ameloblastoma diagnosis is considered.
Ameloblastoma periférico é a contraparte rara extraóssea do ameloblastoma central, que ocorre em tecidos moles e pode causar reabsorção da crista óssea. Este estudo reporta um ameloblastoma periférico localizado na gengiva vestibular de um homem de 56 anos de idade, que apresentava extensas áreas de metaplasia escamosa, queratinização e calcificação distrófica dentro das ilhas neoplásicas. É enfatizada a necessidade de um estudo de imagem detalhado e acompanhamento prolongado para excluir envolvimento ósseo sempre que o diagnóstico de ameloblastoma periférico for considerado.
Subject(s)
Humans , Male , Middle Aged , Ameloblastoma/complications , Calcinosis/complications , Odontogenic Tumors/complicationsABSTRACT
Pachyonychia congenita type II is an autosomal dominant inherited rare genodermatosis characterized by dystrophic wedge shaped thickened nails with subungual hyperkeratosis, symmetric palmoplantar keratoderma, steatocystoma multiplex. Here we report a 23-year-old male with characteristic features of dystrophic nails, palmoplantar keratoderma, steatocystoma multiplex, follicular hyperkeratotic papules and history of natal teeth at birth.
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A epidermólise bolhosa é uma doença hereditária que causa alterações em proteínas estruturais da pele e consequente fragilidade da epiderme. Manifesta-se por surgimento de flictenas por todo o corpo e deformidades funcionais de membros, especialmente nas mãos, sendo que as formas mais características são pseudossindactilia e contraturas. Neste trabalho, descrevemos o caso de um paciente de 12 anos com deformidades nas mãos e flictenas pelo corpo que foi submetido à cirurgia da mão para recuperação da movimentação funcional (AU)
Epidermolysis bullosa is a hereditary disease that causes changes in structural proteins of the skin and consequent fragility of the epidermis. It is manifested by the appearance of blisters all over the body and functional deformities of limbs, especially the hands, and the most characteristic forms are pseudosyndactyly and contractures. In this paper, we describe the case of a 12-year-old patient with deformities in his hands and blisters over the body who underwent hand surgery for recovery of functional movement (AU)
Subject(s)
Humans , Male , Child , Epidermolysis Bullosa Dystrophica/surgery , Epidermolysis Bullosa/classification , Hand Deformities, Acquired/surgery , Hand/surgeryABSTRACT
Objectives To detect genetic causes of dystrophic epidermolysis bullosa (DEB). Methods Next-generation sequencing was used to detect a neonate with DEB. Sanger sequencing was used to confirm the results and detect his parents and grandmother on his mother side from the family. Results The neonate was found to have heterozygous mutation c.6781C>T of exon 86 in COL7A1 gene.This mutation results in R2261X nonsense mutation in typeⅦcollagen. His mother and grand-mother on his mother side have the same mutation. Conclusion Next-generation sequencing technology is a useful tool for the detection of mutations of COL7A1 gene, which is valuable for clinical application.
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Dystrophic calcifications themselves in the breast are classified as typically benign according to the Breast Imaging Reporting and Data System. However, we experienced a patient with invasive ductal carcinoma surrounding large dystrophic calcifications that could be regarded as long-standing benign conditions such as fat necrosis or hematoma. A 61-year-old woman presented with two large dystrophic calcifications within an irregular mass in the right upper outer breast on mammography. Ultrasonography revealed an irregular mass with dense calcifications showing strong posterior acoustic shadowing. On contrast enhanced magnetic resonance imaging, an irregular mass showed a persistent enhancement pattern and high signal intensity on a diffusion weighted image with non-enhancing areas corresponding to the calcifications. No abnormal uptake was observed on Tc-99m methylene diphosphonate bone scan. Invasive ductal carcinoma was observed on ultrasonography-guided core needle biopsy. In this case, we conclude that typical dystrophic calcifications within a breast mass cannot guarantee a benign diagnosis if the imaging characteristics of the mass are suspicious.
Subject(s)
Female , Humans , Middle Aged , Acoustics , Biopsy, Large-Core Needle , Breast , Carcinoma, Ductal , Diagnosis , Diffusion , Fat Necrosis , Hematoma , Information Systems , Magnetic Resonance Imaging , Mammography , Shadowing Technique, Histology , Technetium Tc 99m Medronate , UltrasonographyABSTRACT
Transient bullous dermolysis of the newborn (TBDN) is a rare subtype of the dystrophic epidermolysis bullosa characterized by blistering at birth which improves spontaneously during early life. Electron microscopy showed sublamina densa separation with dilated rough endoplasmic reticulum and electron dense inclusions. Immunofluorescence mapping using anti-type VII collagen antibody showed widespread intraepidermal type VII collagens which are a characteristic finding of TBDN. Here, we report two cases of TBDN presenting typical clinical manifestations, electron microscopy findings, and immunofluorescence mapping results. The skin lesions of both patients healed spontaneously 2~3 months later.
Subject(s)
Humans , Infant, Newborn , Blister , Collagen , Collagen Type VII , Electrons , Endoplasmic Reticulum, Rough , Epidermolysis Bullosa Dystrophica , Fluorescent Antibody Technique , Microscopy, Electron , Parturition , SkinABSTRACT
Dystrophic calcinosis cutis associated with spontaneous hyperadrenocorticism was diagnosed in a 8-year-old female Chihuahua dog with erythematous, erosive, numerous papules, plaques, and crusts on the bilateral trunk, and inguinal region. Serum biochemical abnormalities included increases in alkaline phosphatase (ALP), alanine aminotransferase (ALT), gamma-glutamyl transpeptidase (GGT), and cholesterol. Radiographs showed mild hepatomegaly and subcutaneous lobulated calcific deposits. Histopathologic examination demonstrated diffuse deposition of basophilic calcified material in the dermis. Von Kossa's stain confirmed calcium deposition. Therapy with diltiazem was useful in resolving calcinosis.