Asunto(s)
Calcinosis/diagnóstico por imagen , Lupus Eritematoso Sistémico/diagnóstico , Enfermedades Cutáneas Metabólicas/diagnóstico por imagen , Brazo/diagnóstico por imagen , Calcinosis/terapia , Femenino , Dedos/diagnóstico por imagen , Humanos , Administración del Tratamiento Farmacológico , Persona de Mediana Edad , Radiografía , Enfermedades Cutáneas Metabólicas/terapiaAsunto(s)
Calcinosis/diagnóstico por imagen , Dermoscopía , Síndrome de Down/complicaciones , Queratosis/diagnóstico por imagen , Enfermedades Cutáneas Metabólicas/diagnóstico por imagen , Calcinosis/patología , Niño , Diagnóstico Diferencial , Humanos , Masculino , Molusco Contagioso/diagnóstico , Enfermedades Cutáneas Metabólicas/patologíaRESUMEN
Calciphylaxis is considered a critical inflammatory dermatosis with potentially devastating clinical consequences. Skin biopsies are expedited for evaluation and are often considered as a gold standard for diagnostic confirmation and exclusion of other conditions. The key histopathological features include a combination of vascular and extra-vascular calcifications, intravascular microthrombi, and changes related to resulting ischemia. The pathological diagnosis of calciphylaxis is not always a straightforward process as it can be influenced by a number of factors. The specificity of pathological diagnosis of calciphylaxis has been questioned and a systematic approach with multidisciplinary collaboration is required to avoid potential errors.
Asunto(s)
Calcifilaxia/patología , Errores Diagnósticos/prevención & control , Enfermedades Cutáneas Metabólicas/patología , Enfermedades Cutáneas Vasculares/patología , Biopsia/métodos , Reacciones Falso Negativas , Reacciones Falso Positivas , Humanos , Piel/patologíaAsunto(s)
Mucopolisacaridosis II/diagnóstico , Enfermedades Cutáneas Genéticas/diagnóstico , Enfermedades Cutáneas Metabólicas/diagnóstico , Brazo , Dorso , Preescolar , Humanos , Masculino , Mucopolisacaridosis II/complicaciones , Mucopolisacaridosis II/patología , Enfermedades Cutáneas Genéticas/etiología , Enfermedades Cutáneas Genéticas/patología , Enfermedades Cutáneas Metabólicas/etiología , Enfermedades Cutáneas Metabólicas/patología , TóraxRESUMEN
Primary hyperoxaluria (PH) is a rare genetic disorder with autosomal recessive transmission, characterized by high endogenous production and markedly excessive urinary excretion of oxalate (Ox). It causes the accumulation of calcium oxide crystals in organs and tissues including bones, heart, arteries, skin and kidneys, where it may cause oxalo-calcic nephrolithiasis, nephrocalcinosis and chronic renal failure. Some forms are secondary to enteric diseases, drugs or dietetic substances, while three primitive forms, caused by various enzymatic defects, are currently known: PH1, PH2 and PH3. An early diagnosis, with the aid of biochemical and genetic investigations, helps prevent complications and establish a therapeutic strategy that often includes liver and liver-kidney transplantation, improving the prognosis of these patients. In this work we describe the clinical case of a patient with PH1 undergoing extracorporeal hemodialysis treatment and we report the latest research results that could change the life of patients with PH.
Asunto(s)
Calcifilaxia/terapia , Hiperoxaluria Primaria/genética , Hiperoxaluria Primaria/terapia , Diálisis Renal/métodos , Enfermedades Cutáneas Metabólicas/terapia , Transaminasas/genética , Calcifilaxia/etiología , Calcifilaxia/patología , Compuestos de Calcio/metabolismo , Femenino , Glioxilatos/metabolismo , Hemodiafiltración/métodos , Humanos , Hiperoxaluria Primaria/diagnóstico , Fallo Renal Crónico/etiología , Trasplante de Riñón , Persona de Mediana Edad , Nefrocalcinosis/etiología , Nefrocalcinosis/terapia , Uso Fuera de lo Indicado , Oxalatos/metabolismo , Óxidos/metabolismo , Enfermedades Cutáneas Metabólicas/etiología , Enfermedades Cutáneas Metabólicas/patología , Tiosulfatos/uso terapéuticoRESUMEN
Systemic immunoglobulin light chain amyloidosis is the most common and severe type of amyloidosis. There is an abnormal fibrillary protein deposition in tissues that leads to progressive and irreversible organ dysfunction. The most commonly affected organs are kidney and heart. Although rare, cutaneous manifestations may be the first clinical sign of the disease and usually present as hemorrhagic lesions, such as purpura, petechiae, and ecchymosis. We present a 71-year-old man that presented to our department because of exuberant purpuric plaques in the anogenital area as the first manifestation of an amyloid light-chain (AL) amyloidosis. The multi-organ involvement in addition to rapid clinical deterioration precipitated the patient's death four months later.
Asunto(s)
Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/patología , Púrpura/patología , Enfermedades Cutáneas Metabólicas/patología , Anciano , Nalgas , Cardiomiopatías/diagnóstico , Cardiomiopatías/etiología , Ingle , Humanos , Hipertrofia Ventricular Izquierda/diagnóstico , Hipertrofia Ventricular Izquierda/etiología , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/complicaciones , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/diagnóstico , Masculino , Púrpura/diagnóstico , Púrpura/etiología , Cuadriplejía/etiología , Enfermedades Cutáneas Metabólicas/complicaciones , Enfermedades Cutáneas Metabólicas/diagnósticoRESUMEN
The porphyrias are a group of metabolic disorders resulting from an innate abnormality in haem biosynthesis, and the clinical settings of which vary according to the genetic enzyme abnormality in question. These are genetic disorders with autosomal dominant or recessive inheritance of varying penetrance, and whose clinical expression differs according to the preferential location of haem precursors. Different classifications have been proposed according to genetic inheritance, the enzyme anomaly at issue, and clinical expression. The clinical classification distinguishes between acute porphyria (acute intermittent porphyria, porphyria variegata, hereditary coproporphyria), bullous cutaneous porphyrias (porphyria cutanea tarda, porphyria variegata and hereditary coproporphyria), painful photosensitive acute cutaneous porphyrias (erythropoietic protoporphyria and X-linked dominant protoporphyria), and rare recessive porphyrias (congenital erythropoietic porphyria, Doss porphyria, hepatoerythropoietic porphyria and harderoporphyria). Treatment depends on the clinical expression of the disorder.
Asunto(s)
Porfirias , Enfermedades Cutáneas Metabólicas , Biopsia , Coproporfiria Hereditaria/diagnóstico , Coproporfiria Hereditaria/genética , Coproporfiria Hereditaria/terapia , Diagnóstico Diferencial , Hemo/biosíntesis , Humanos , Trastornos por Fotosensibilidad/complicaciones , Trastornos por Fotosensibilidad/diagnóstico , Trastornos por Fotosensibilidad/terapia , Porfiria Cutánea Tardía/diagnóstico , Porfiria Cutánea Tardía/genética , Porfiria Cutánea Tardía/terapia , Porfiria Eritropoyética/diagnóstico , Porfiria Eritropoyética/genética , Porfiria Eritropoyética/terapia , Porfirias/clasificación , Porfirias/diagnóstico , Porfirias/genética , Porfirias/terapia , Protoporfiria Eritropoyética/diagnóstico , Protoporfiria Eritropoyética/genética , Protoporfiria Eritropoyética/terapia , Piel/patología , Enfermedades Cutáneas Metabólicas/clasificación , Enfermedades Cutáneas Metabólicas/diagnóstico , Enfermedades Cutáneas Metabólicas/genética , Enfermedades Cutáneas Metabólicas/terapiaRESUMEN
In this case series, we retrospectively identified all patients treated with topical sodium thiosulfate (TST) for calcinosis cutis (CC) associated with underlying autoimmune connective tissue diseases at Mayo Clinic (Rochester, MN, USA) during the period 1 January 2012 to 27 June 2017. Of 28 patients identified (mean age 57.0 years; 96% female), 19 (68%) had clinical improvement of their CC with TST, 7 (25%) had no response and 2 (7%) had unknown response. There were adverse events in three patients: two had skin irritation and the third, who had a zinc allergy, experienced pain with application. Overall, our findings support those of previous case reports that TST appears to be a relatively well-tolerated adjuvant treatment for CC, although future studies with a control group are warranted to assess the true efficacy of TST for the indication of CC.
Asunto(s)
Enfermedades Autoinmunes/complicaciones , Calcinosis/tratamiento farmacológico , Quelantes/uso terapéutico , Enfermedades del Tejido Conjuntivo/complicaciones , Enfermedades Cutáneas Metabólicas/tratamiento farmacológico , Tiosulfatos/uso terapéutico , Administración Cutánea , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Artritis Juvenil/complicaciones , Artritis Reumatoide/complicaciones , Calcinosis/complicaciones , Dermatomiositis/complicaciones , Femenino , Humanos , Lupus Eritematoso Sistémico/complicaciones , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Esclerodermia Sistémica/complicaciones , Enfermedades Cutáneas Metabólicas/complicaciones , Enfermedades Indiferenciadas del Tejido Conectivo/complicaciones , Adulto JovenAsunto(s)
Gota/diagnóstico , Enfermedades Cutáneas Metabólicas/diagnóstico , Anciano , Femenino , Gota/complicaciones , Gota/patología , Humanos , Insuficiencia Renal Crónica/complicaciones , Insuficiencia Renal Crónica/tratamiento farmacológico , Enfermedades Cutáneas Metabólicas/etiología , Enfermedades Cutáneas Metabólicas/patologíaRESUMEN
This study systematically reviewed previous literatures and analyzed the genotype-phenotype relationship between the multiple endocrine neoplasia type 2A (MEN 2A)-cutaneous lichen amyloidosis (CLA) and RET/OSMR/IL31RA mutations. RET/OSMR/IL31RA screening was performed on 8 RET-carriers from 3 independent Chinese MEN 2A families. Besides, 51 MEN 2A-CLA patients in 116 RET carriers from literatures were clustered and analyzed. Our results indicated that almost all MEN 2A-CLA patients exhibited CLA which was located in the scapular region and carried RET mutation at codon 634. Meanwhile, we firstly described MEN 2A-CLA here in Chinese Han patient with RET p.C634F mutation.
Asunto(s)
Amiloidosis/complicaciones , Pueblo Asiatico/genética , Marcadores Genéticos , Neoplasia Endocrina Múltiple Tipo 2a/complicaciones , Mutación , Proteínas Proto-Oncogénicas c-ret/genética , Enfermedades Cutáneas Metabólicas/complicaciones , Adulto , Amiloidosis/genética , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasia Endocrina Múltiple Tipo 2a/genética , Subunidad beta del Receptor de Oncostatina M/genética , Linaje , Fenotipo , Proto-Oncogenes Mas , Receptores de Interleucina/genética , Enfermedades Cutáneas Metabólicas/genéticaRESUMEN
Calcinosis cutis results from the deposition of insoluble calcium salts in the skin and subcutaneous tissue. Herein, we report a case of extensive metastatic calcinosis cutis in an 18-year-old woman with stage IV Hodgkin lymphoma with skeletal involvement. With combination therapy including radiation directed at her lymphoma and diltiazem, her lesions improved dramatically. This case demonstrates the previously unreported association between calcinosis cutis and Hodgkin lymphoma.
Asunto(s)
Calcinosis/diagnóstico , Enfermedad de Hodgkin/radioterapia , Hipercalcemia/diagnóstico , Enfermedades Cutáneas Metabólicas/diagnóstico , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias Óseas/secundario , Calcinosis/etiología , Calcinosis/patología , Bloqueadores de los Canales de Calcio/uso terapéutico , Diltiazem/uso terapéutico , Femenino , Enfermedad de Hodgkin/complicaciones , Enfermedad de Hodgkin/tratamiento farmacológico , Enfermedad de Hodgkin/patología , Humanos , Hipercalcemia/tratamiento farmacológico , Hipercalcemia/etiología , Estadificación de Neoplasias , Enfermedades Cutáneas Metabólicas/etiología , Enfermedades Cutáneas Metabólicas/patologíaRESUMEN
Eruptive xanthomas are benign skin lesions caused by localised deposition of lipids in the dermis. Xanthomas can present as early manifestations of systemic disorders, which are typically caused by elevated levels of serum triglycerides and uncontrolled diabetes. Early recognition and treatment of the underlying condition decreases morbidity and mortality. After treatment of the underlying metabolic disorders, lesions mostly disappear without leaving scars. We present a case with multiple yellowish, erythematous papules on the extremities suggestive of eruptive xanthomas admitted to our hospital with acute pancreatitis.
Asunto(s)
Pancreatitis/complicaciones , Enfermedades Cutáneas Metabólicas/etiología , Xantomatosis/etiología , Enfermedad Aguda , Adulto , Humanos , MasculinoAsunto(s)
Complicaciones del Embarazo/diagnóstico , Receptores de Progesterona/análisis , Enfermedades Cutáneas Metabólicas/diagnóstico , Telangiectasia/diagnóstico , Adulto , Femenino , Humanos , Embarazo , Complicaciones del Embarazo/patología , Enfermedades Cutáneas Metabólicas/patología , Telangiectasia/patologíaRESUMEN
Wilson disease (WD) is a rare disorder of copper metabolism that presents mainly with hepatic and neuropsychiatric features. Copper accumulates not only in the liver and brain, but also in other organs. Liver injury can also be the cause of secondary impairment of other tissues. Therefore, the clinical manifestation of WD may be renal, cardiac, skin, osteoarticular, or endocrinologic and include other organ disturbances. Renal abnormalities include tubular dysfunction (e.g., renal tubular acidosis, aminoaciduria) and nephrolithiasis. Bone demineralization is a common manifestation in patients with WD. Cardiac injury may include arrhythmia, cardiomyopathy, and autonomic dysfunction. Different endocrine system manifestations, such as infertility or repeated miscarriages, growth and puberty disturbances, and hypoparathyroidism, are observed. Other important clinical aspects of WD include pancreas involvement, immunologic abnormalities, the presence of lipomas, and skin changes. Although other organ involvement is not common in WD and usually not severe, delayed diagnosis may lead to irreversible changes in organs and tissues. Therefore, awareness of other possible WD presentations is important in the differential diagnosis of WD.
Asunto(s)
Degeneración Hepatolenticular/complicaciones , Enfermedades Óseas Metabólicas/etiología , Encéfalo/metabolismo , Cardiomiopatías/etiología , Cobre/metabolismo , Diagnóstico Diferencial , Enfermedades del Sistema Endocrino/etiología , Degeneración Hepatolenticular/diagnóstico , Humanos , Enfermedades Renales/etiología , Hígado/metabolismo , Enfermedades Cutáneas Metabólicas/etiologíaRESUMEN
Several dermatoses are routinely associated with diabetes mellitus, especially in patients with chronic disease. This relationship can be easily proven in some skin disorders, but it is not so clear in others. Dermatoses such necrobiosis lipoidica, granuloma annulare, acanthosis nigricans and others are discussed in this text, with an emphasis on proven link with the diabetes or not, disease identification and treatment strategy used to control those dermatoses and diabetes.
Asunto(s)
Complicaciones de la Diabetes/complicaciones , Diabetes Mellitus , Enfermedades de la Piel/etiología , Acantosis Nigricans/etiología , Acantosis Nigricans/patología , Pie Diabético/patología , Granuloma Anular/etiología , Granuloma Anular/patología , Humanos , Necrobiosis Lipoidea/etiología , Necrobiosis Lipoidea/patología , Psoriasis/etiología , Psoriasis/patología , Enfermedades de la Piel/clasificación , Enfermedades de la Piel/patología , Enfermedades Cutáneas Metabólicas , Enfermedades Cutáneas Vesiculoampollosas/etiología , Enfermedades Cutáneas Vesiculoampollosas/patología , Vitíligo/etiología , Vitíligo/patologíaRESUMEN
Abstract: Several dermatoses are routinely associated with diabetes mellitus, especially in patients with chronic disease. This relationship can be easily proven in some skin disorders, but it is not so clear in others. Dermatoses such necrobiosis lipoidica, granuloma annulare, acanthosis nigricans and others are discussed in this text, with an emphasis on proven link with the diabetes or not, disease identification and treatment strategy used to control those dermatoses and diabetes.
Asunto(s)
Humanos , Enfermedades de la Piel/etiología , Complicaciones de la Diabetes/complicaciones , Diabetes Mellitus , Psoriasis/etiología , Psoriasis/patología , Enfermedades de la Piel/clasificación , Enfermedades de la Piel/patología , Enfermedades Cutáneas Metabólicas , Vitíligo/etiología , Vitíligo/patología , Enfermedades Cutáneas Vesiculoampollosas/etiología , Enfermedades Cutáneas Vesiculoampollosas/patología , Granuloma Anular/etiología , Granuloma Anular/patología , Pie Diabético/patología , Acantosis Nigricans/etiología , Acantosis Nigricans/patología , Necrobiosis Lipoidea/etiología , Necrobiosis Lipoidea/patologíaRESUMEN
Obesity results from excessive energy intake and physical inactivity, and predisposes one to various diseases. One of these reasons is that enlargement of adipocytes raises the lipid metabolic abnormalities that affect various organs. The skin is one such organ, and it has been reported that subcutaneous adipocyte cells secrete various factors and these factors are involved in reduction of dermal collagen fibers and fragility of the skin in obesity. The present study explored the efficacy of Kaempferia parviflora (KP) in preventing obesity-induced dermatopathy. We used Tsumura Suzuki obese diabetes (TSOD) mice as an obesity model. TSOD mice were fed a standard diet (MF) mixed with either an ethanol extract from KP (KPE), polymethoxyflavonoid-rich extract from KP (PMF), or polymethoxyflavonoid-poor extract from KP (X). We then evaluated the effect of these three KP fractions on aging-like skin damage induced by UVB irradiation. KPE and PMF caused a significant decrease of mouse body weight, and suppressed the increase in the thickness of the subcutaneous fat layer. In addition, KPE shifted the frequency of subcutaneous adipocyte sizes towards smaller cells possibly via its polypharmacological actions. Scanning electron microscopy revealed that the stereostructure of the collagenous fibers in the dermis was better retained in the KPE and PMF groups, in that order. These results offer the first evidence that KPE can attenuate obesity-induced dermatopathy more effectively than PMF, suggesting that KPE (or KP) might be a candidate supplement for preventing obesity-related skin disorders.