Perianal purpuric plaques revealing an amyloid light-chain amyloidosis: case report and review of the literature.

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.

Topical sodium thiosulfate for calcinosis cutis associated with autoimmune connective tissue diseases: the Mayo Clinic experience, 2012-2017.

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.

The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese.

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.

Calcinosis cutis y calcifilaxis / Calcinosis Cutis and Calciphylaxis

La calcinosis cutis (CC) se define como el depósito de sales de calcio en la piel. Esta entidad se clasifica en 5 tipos que incluyen la CC distrófica, metastásica, idiopática, iatrogénica y calcifilaxis. La calcificación distrófica constituye el tipo más frecuente y aparece principalmente en enfermedades autoinmunes. El tratamiento de la CC incluye la extirpación quirúrgica o el uso de fármacos como diltiazem, bifosfonatos, warfarina, ceftriaxona, probenecid, minociclina e hidróxido de aluminio. La calcifilaxis se define como la calcificación de la capa media de vasos de pequeño y mediano tamaño de la dermis y tejido celular subcutáneo. Clínicamente se manifiesta como un síndrome de livedo racemosa que progresa a púrpura retiforme y necrosis cutánea. La primera línea de tratamiento es el tiosulfato sódico. El objetivo de esta revisión es proporcionar un análisis de los diferentes trastornos de calcificación cutánea enfocada en su diagnóstico y tratamiento

Calcinosis cutis (CC) is defined as the deposition of calcium salts in the skin. The condition is divided into 5 types: calciphylaxis and dystrophic, metastatic, idiopathic, and iatrogenic CC. Dystrophic CC is the most common form and usually occurs in association with autoimmune diseases. CC can be treated surgically or with the use of drugs such as diltiazem, bisphosphonates, warfarin, ceftriaxone, probenecid, minocycline, or aluminum hydroxide. Calciphylaxis is defined as calcification of the media of small- and medium-sized blood vessels in the dermis and subcutaneous tissue. Clinically, calciphylaxis causes livedo racemosa, which progresses to retiform purpura and skin necrosis. First-line treatment is with sodium thiosulfate. We present a review of the calcifying disorders of the skin, focusing on their diagnosis and treatment

Enfermedad de Grover en fracaso renal crónico / Grover's disease in chronic kidney failure

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Medicina darwiniana y psoriasis / Darwinian Medicine and Psoriasis

La medicina evolutiva o darwiniana entiende algunos procesos patológicos como intentos del organismo por solucionar un problema o generar mecanismos de defensa. Algunas enfermedades pueden haber representado una ventaja en ciertos estadios de la evolución humana. La psoriasis es una enfermedad poligénica con alta penetrancia y una prevalencia de hasta el 3% en las poblaciones de origen caucásico. Se ha descrito que las lesiones de psoriasis generan una mayor capacidad para la curación de las heridas, y de lucha contra la infección. Se ha postulado que, en ciertas poblaciones, los genes promotores de psoriasis han sido seleccionados ante la presión ambiental de ciertas infecciones como la lepra, el sida y la tuberculosis. La tendencia de los enfermos con psoriasis grave al desarrollo de síndrome metabólico puede representar un intento de reacción ante presiones ambientales y señales de alarma que desencadenan resistencia insulínica y ahorro de grasa

Darwinian medicine, or evolutionary medicine, regards some pathological conditions as attempts by the organism to solve a problem or develop defense mechanisms. At certain stages of human evolution, some diseases may have conferred a selective advantage. Psoriasis is a high-penetrance multigenic disorder with prevalence among whites of up to 3%. Psoriatic lesions have been linked with enhanced wound-healing qualities and greater capacity to fight infection. Leprosy, tuberculosis, and infections caused by viruses similar to human immunodeficiency virus have been postulated as environmental stressors that may have selected for psoriasis-promoting genes in some human populations. The tendency of patients with severe psoriasis to develop metabolic syndrome may reflect the body’s attempt to react to environmental stresses and warning signs by triggering insulin resistance and fat storage

Lactants amb augment de pigmentació periunguial / No disponible

No disponible

Update on pediatric photosensitivity disorders.

PURPOSE OF REVIEW: Although rare in the pediatric population, photosensitive dermatoses may begin prior to adulthood. The causes of photosensitivity are diverse, ranging from primary, immunologically mediated disorders of photosensitivity to inherited genetic or metabolic disorders. This review will highlight the key features of these disorders to familiarize the pediatric practitioner with their symptoms and any associated extracutaneous clinical or laboratory findings that may accompany them. RECENT FINDINGS: New developments in the field of pediatric photosensitivity have been scant over recent years. While mechanisms of photosensitivity and genetic underpinnings associated with various conditions such as xeroderma pigmentosum continue to be uncovered, the literature on disorders of photosensitivity has been otherwise without many recent significant advances. SUMMARY: Although the differential diagnosis of pediatric photosensitivity disorders is broad, it is often possible to establish the diagnosis by following an algorithmic approach. Once the correct diagnosis is rendered, this will guide any further workup that needs to be performed as well as specific management strategies.

Cutaneous manifestations of internal diseases.

One of the best-recognized cutaneous manifestations of internal disease includes the skin changes seen in endocrine diseases. Cutaneous manifestations of internal disease can also be seen with certain neoplastic processes. Metabolic disturbances in zinc, lipid metabolism, or increased amino acid catabolism can result in zinc-responsive dermatosis, cutaneous xanthomas, and superficial necrolytic dermatitis, respectively. Certain infectious diseases can result in skin lesions that may provide visual clues but also critical diagnostic information if the skin is biopsied and cultured. Recognizing those skin changes that are clinical markers for internal disease can expedite the diagnosis and timely management of several systemic diseases.

Diffuse plane xanthomatosis associated with monoclonal gammopathy.

Diffuse plane normolipemic xanthomatosis (DPNX) is a rare, non-inherited disease that is often associated with systemic diseases, mainly malignant hematological (especially multiple myeloma) or lymph proliferative disorders. The DPNX can precede the appearance of such conditions by several years, so careful follow-up and periodic laboratory examinations are recommended even for patients that seemed to have no underlying disease. We describe a case associated with monoclonal gammopathy. This case shows that dermatological lesions can be the first manifestation of important hematological diseases and so physicians should be familiarized with this entity.

Diffuse plane xanthomatosis associated with monoclonal gammopathy / Xantomatose plana difusa associada a gamopatia monoclonal

Diffuse plane normolipemic xanthomatosis (DPNX) is a rare, non-inherited disease that is often associated with systemic diseases, mainly malignant hematological (especially multiple myeloma) or lymph proliferative disorders. The DPNX can precede the appearance of such conditions by several years, so careful follow-up and periodic laboratory examinations are recommended even for patients that seemed to have no underlying disease. We describe a case associated with monoclonal gammopathy. This case shows that dermatological lesions can be the first manifestation of important hematological diseases and so physicians should be familiarized with this entity.

A xantomatose plana difusa normolipêmica (XPDN) é uma dermatose adquirida rara, muitas vezes associada a doenças sistêmicas, nomeadamente neoplasias hematológicas(sobretudo o mieloma múltiplo) ou a processos linfoproliferativos. A XPDN pode preceder o aparecimento dessas doenças em vários anos, sendo por isso recomendada uma vigilância clínica e laboratorial periódica, mesmo para os doentes que aparentemente não apresentam uma doença associada. Descrevemos um caso associado à gamopatia monoclonal. Este caso demonstra a importância das manifestações cutâneas como primeira manifestação de doenças hematológicas importantes e por isso os clínicos devem estar familiarizados com esta entidade.

Lipoatrofia semicircular de origen laboral / Occupational semicircular lipoatrophy

Objetivo: En 2007 se notificaron en Cataluña una serie de casos de lipoatrofia semicircular potencialmente relacionados con determinados factores de riesgo presentes en los puestos de trabajo. El objetivo del presente trabajo es proponer una definición y clasificación de caso de lipoatrofia semicircular de origen laboral (LSOL) y describir los resultados de los casos estudiados en la Mutua Asepeyo en Cataluña. Métodos: Se examinaron 153 trabajadores con sospecha de lipoatrofia semicircular con un mismo protocolo de actuación. Se describen los resultados de 148 casos atendidos consecutivamente y pertenecientes a 27 empresas diferentes. El estudio se llevó a cabo entre abril y septiembre de 2007. Resultados: El mayor porcentaje de casos de lipoatrofia semicircular se da en mujeres (94%), con un rango de edad predominante para los dos sexos entre 31 y 41 años (46%), con normopeso (69%), con afectación en los muslos (96%) y en trabajadores con tareas administrativo-ofimáticas (97%) que referían apoyarse en la mesa de trabajo como factor de riesgo relacionado con su patología(58%). Adicionalmente, se objetiva el aumento de las cargas electrostáticas y la disminución de la humedad relativa ambiental en 19 casos procedentes de 6 empresas. Conclusión: La vigilancia médica de los trabajadores afectados por lipoatrofia semicircular debe realizarse de forma protocolizada para identificar adecuadamente los casos de origen laboral. En nuestro estudio, el origen laboral del problema se ha podido determinar aproximadamente en la mitad de los casos. Aunque sigue sospechándose etiología laboral en la mayoría de los casos, ha sido imposible disponer, en esta fase del estudio, de las mediciones técnicas necesarias para identificar los factores de riesgo laborales considerados como potencialmente causales(AU)

Objective: In 2007 several cases of semicircular lipoatrophy were reported as potentially related to occupational risk factors. The aim of this study is to propose a case defi nition and classifi cation for occupational semicircular lipoatrophy (OSL) and to summarize the results of the cases examined through the Asepeyo insurance company in Cataluña. Methods: 153 workers with suspected semicircular lipoatrophy were examined using a standardized protocol. Results for 148 consecutive cases, from 27 different companies, are described. The evaluations were conducted between April and September of 2007. Results: Most cases with semicircular lipoatrophy were women (94%), with a similar age range for both sexes, between 31 and 41 years (46%); normal body mass index (69%); lesions appearing on the thighs (96%); in jobs with administrative or office-related tasks(97%); and with a high proportion (58%) of patients reporting leaning on their desks as a risk factor (58%). Additionally, increases inelectrostatic charge burden and decreases in ambient relative humidity were confirmed in 19 cases from six different companies. Conclusions: Surveillance of workers with semicircular lipoatrophy would benefit from specific protocols to allow identification of work-related cases. In this study, an association between the case and the working conditions was observed in approximately half of the cases. Even though the majority of the cases are suspected to be work-related, it has not been possible to confirm these, given the absence of objective measurements of the suspected occupational causes(AU)

Primary localized cutaneous nodular amyloidosis and CREST syndrome: a case report and review of the literature.

Primary localized cutaneous nodular amyloidosis (PLCNA) is a form of primary localized cutaneous amyloidosis (PLCA) that presents as yellowish waxy nodules on the extremities, face, trunk, or genitalia. We report the case of a patient with PLCNA and CREST (calcinosis, Raynaud phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia) syndrome. A diagnosis of her extensive PLCNA was made after biopsy specimens from the bilateral shins stained positive for amyloid extending from the superficial papillary dermis to the subcutis. Results of a workup were negative for paraproteinemia or signs of systemic amyloidosis and have remained so after 8 years of follow-up. We present a review of the literature describing the presentation and histopathology of the varying forms of amyloidosis.

Disseminated blue naevus and malignant blue naevus associated with excessive aromatase syndrome.

We report a case of a 17-year-old boy who had a giant congenital blue naevus with multiple satellite pigmented lesions. Later the patient developed melanoma arising in the pre-existing lesion. He also had gynaecomastia and was diagnosed as having aromatase excess syndrome. To our knowledge, the association of these two rare conditions has not been previously reported. Further studies should be performed to investigate this unusual combination, which may have a genetic, endocrine or local cutaneous link leading to its occurrence.

Ocronosis endógena: descripción de un caso / Endogenous ochronosis: a case description

La ocronosis endógena o alcaptonuria es una enfermedad autosómica recesiva producida por una insuficiencia de la enzima homogentísica oxidasa. Los individuos afectados excretan altas concentraciones de ácido homogentísico en orina que se oscurece cuando esta es alcalinizada u oxidada. También tiene lugar el depósito de pigmento marrón negruzco en el tejido conjuntivo, que provoca habitualmente, a partir de la cuarta década, las típicas manifestaciones externas de esta enfermedad junto con alteraciones en otros órganos. Presentamos un caso clínico de ocronosis endógena, proceso muy poco frecuente en nuestro medio y detallaremos los aspectos más destacados del caso

Endogenous ochronosis or alkaptonuria is an autosomal recessive disease caused by a deficiency of the enzyme homogentisic acid oxidase. Affected individuals excrete high levels of homogentisic acid in the urine, which darkens when it is alkalinized or oxidized. Deposits of blackish-brown pigment also occur in connective tissue; this causes, usually starting around the age of 40, the typical external manifestations of this disease, along with disorders in other organs. We present a clinical case of endogenous ochronosis, a very infrequent disease in our milieu. We will discuss the most noteworthy features of the case

Melanoniquia longitudinal en el embarazo / Longitudinal melanonychia in pregnancy

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Primary localized cutaneous nodular amyloidosis in a patient with Sjögren's syndrome: a review of the literature.

We report a 53-year-old Japanese woman with multiple, red, and elastic soft nodules on the left waist, left thigh, and right lower leg. She had had polyclonal hyperglobulinemia for one year, rheumatoid arthritis for 13 years, and Sjögren's syndrome (SjS) for 18 years. Histochemical examination of the nodule on the left thigh revealed a deposition of amyloid by Congo red staining. It was also positively stained with both anti-kappa and -lambda light chain antibodies. Moreover, the cytoplasm of the infiltrating plasma cells also positively reacted to both antibodies. The major amyloid proteins of primary localized cutaneous nodular amyloidosis (PLCNA) generally consist of monoclonal immunoglobulin light chains. A review of literature demonstrates 13 cases of PLCNA with SjS, in which immunoglobulin light chains were demonstrated in the amyloid in 5 cases. Amyloid in the 3 cases was composed of a single class immunoglobulin light chain and that in the 2 cases was composed of both kappa and lambda light chains. Polyclonal immunoglobulin amyloid has been reported only in PLCNA with SjS, which may be related to the fact that a certain population of SjS develops polyclonal B cell proliferation and hyperglobulinemia.