PBC and related extrahepatic diseases.

Patients with PBC have at least 60% of probability to have an autoimmune extrahepatic condition. The pathogenesis of these conditions includes a common mechanism involving both innate and adaptive immune responses targeting cholangiocytes and different extrahepatic tissues. The recent EASL guidelines recommend the management of these conditions, although detailed practical treatments have not been indicated. Autoimmune extrahepatic conditions may include: rheumatologic, endocrine, pulmonary, gastrointestinal, dermatologic diseases. This review aims to focus the most important extrahepatic autoimmune conditions associated to PBC with practical recommendation regarding diagnostic approach and management.

A Rare Cause of Leg Ulcer: Calcinosis Cutis as a Part of CREST Syndrome.

Leg ulcers are not a disease themselves, they are a symptom of a disease. To manage them properly, finding the correct diagnosis of the disease is mandatory. Our case is a model to underline that leg ulcers are a significant burden for the patient, because leg ulcer got ahead of the patient's other serious complaints such as Raynaud's phenomenon or sclerodactyly. Furthermore, our patient is also a model, and an attentive clinical evaluation is inevitable to find the correct diagnosis. We present our case aiming to underline the significance of full dermatologic examination in each ulceration to discover underlying disease.

Imaging studies of kleptomania in a middle-aged woman with obsessive-compulsive disorder: a case report.

A 57-year-old woman who had been arrested for shoplifting visited our hospital. She was diagnosed with kleptomania. She had previously been diagnosed with CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome and obsessive-compulsive disorder. Cranial magnetic resonance imaging showed mild atrophy of the bilateral dorsolateral prefrontal cortices, left hippocampus, and occipital cortex, as well as diffuse mild T2 hyperintensity in the deep and subcortical white matter, including the frontal region. During a single-photon emission computed tomography scan, significant hyperperfusion was observed in the right ventral striatum, including the nucleus accumbens, ventral thalamus, and right ventrolateral prefrontal areas. Patchy hypoperfusion was found in the bilateral posterior cingulate, parietal, and occipital regions. The patient's neurocognitive function was normal, except for slight impairment of her executive function. Her symptoms and neuroimaging findings were not suggestive of a specific neurocognitive disorder. Hyperactivity of the right ventral striatum may contribute to both obsessive-compulsive disorder and kleptomania. Although frontotemporal lobar degeneration is a major neurocognitive disorder related to illegal behaviours, CREST syndrome-induced white matter microstructural damage in the orbitofrontal lobe could have caused our patient's kleptomania.

Hemorragia digestiva alta (estómago de sandía) en paciente con esclerodermia limitada (síndrome de CREST) / Upper gastrointestinal bleeding (watermelon stomach) in a patient with limited scleroderma (CREST syndrome)

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Eosinophlic pneumonia in a patient with anticentromere antibody / Neumonía eosinofílica en pacientes con anticuerpos anticentroméricos

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Dystrophic calcifications and Raynaud's phenomenon in an eight-year old girl.

INTRODUCTION: Dystrophic calcifications are the most common subtype of skin calcinosis. Tumorous soft tissue calcium deposits usually contain hydroxyapatite and amorphous calcium phosphate. Differential diagnosis of skin calcinosis encompasses Thibierge-Weissenbach syndrome, systemic sclerosis, scleroderma, CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia), dermatomyositis, systemic lupus erythematosus, ad myositis ossificans progressiva. CASE OUTLINE: We present the case of an eight-year old girl with tumorous soft tissue calcium deposits and Raynaud's phenomenon. At the age of 3.5 years, our patient was admitted to Pediatric Surgery Clinic because of bilateral acrocyanosis localized at the fingertips area of hands, with the signs of vascular trauma. Therapy with vasodilators and hyperbaric oxygen treatment were completed. This therapy resulted in improvement. At the age of eight, the patient was admitted again due to intermittent, painful cramps localized in both hands. Punctiform deposits were present at the tips of fingers and toes, which looked like calcifications and were spontaneously eliminated, with the remnants of crater-shaped defects. A hard tumorous deformity localized in soft tissue was present in the extensor area of the right elbow. Laboratory indicators of inflammation were within the reference values, and antinuclear antibodies were positive. A nodus localized at the right elbow was extirpated. Pathohistological findings: connective and fat tissue with large deposits of calcium. CONCLUSION: Further follow-up of our patient is necessary due to possible development of complete picture of CREST syndrome or systemic sclerosis.

¿Será sólo una cuestión de frío? / Could it just be a matter of cold?

El síndrome de CREST es una variante de la esclerodermia y se caracteriza por calcinosis, fenómeno de Raynaud, cambio de la motilidad esofágica, esclerodactilia y telangiectasias. Normalmente, la afectación cutánea se limita a las extremidades distales, la progresión es más lenta y el pronóstico más favorable que en la esclerodermia, pudiendo no existir compromiso visceral. El objetivo de este trabajo es relatar un caso clínico de síndrome de CREST, enfocando la importancia del médico de familia en la valoración de las señales y síntomas presentados por los pacientes, permitiendo un diagnóstico y una orientación terapéutica adecuados

The CREST syndrome is a variant of scleroderma characterized by calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly and telangiectasias. Skin affection is usually limited to distal extremities, it progresses more slowly and its prognosis is more favorable than in scleroderma, with the possibility of no visceral involvement. The aim of this paper is to present a clinical case of CREST syndrome, highlighting the relevance of the family physician in the assessment of the patient's signs and symptoms, thus allowing adequate diagnosis and therapeutic guidelines (AU)

Clinical significance of autoantibodies to the pericentromeric heterochromatin protein 1a protein.

OBJECTIVE: The objective of the study is to determine the frequency and the clinical significance of autoantibodies to the pericentromeric heterochromatin protein 1 (HP1). So far this antinuclear antibody specificity has been mainly reported in patients with the CREST syndrome. METHODS: We screened the sera of 199 individuals, including patients suffering from various autoimmune disorders (Group I, n=145) and non autoimmune diseases (Group II, n=44 patients) as well as healthy individuals (Group III, n=30). The sera were systematically tested by Western blot and ELISA using a GST-HP1α fusion protein as an antigen. RESULTS: Anti-HP1 antibodies were detected in 32% of patients in Group I, 11.3% in Group II and 3.3% of individuals in Group III. They could be detected in sera containing or not antinuclear antibodies detectable by indirect immunofluorescence. Anti-HP1 antibodies were mostly associated with the CREST and Sjogren's syndromes (70% and 44.4%, respectively). They could also be detected in 22.2% of patients suffering from various other autoimmune diseases. However, their negative predictive value was 94% in the CREST syndrome. CONCLUSION: Anti-HP1 autoantibodies are associated with a large spectrum of disorders. However, they have a diagnostic value in the CREST syndrome.

Surgical management of digital calcinosis in CREST syndrome.

As a limited form of sclerodermy, CREST syndrome is characterized by calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia, which determine the acronym CREST. Calcinosis is a particularly difficult entity to treat given the paucity of effective options described in the literature. Treatment of finger calcinosis has a wide range of possibilities depending on the extent of calcifications and the involvement of deep structures. From a surgical point of view, whereas simple removal is adequate in minor outpatient cases, a radical debridement in the major and more painful cases seems required. A cover flap is needed particularly in the thumb due to its great functional importance, also if the fingertip is not involved. The authors recommend the kite flap for the dimensions, the tissue quality, and the possibility of giving sensation to the reconstructed area. With this surgical option, the transferred skin is soft, sensate, and the right fit. Usually, no further operations are needed for flap remodeling. The time required for sensory integration is about 2 years, often related to the age of the patient. Debridement and flap reconstruction usually give total resolution of pain, with complete recovery of thumb motion and the thumb-index finger grip.

Síndrome de CREST: presentación de un caso / CREST syndrome: presentation of a case

Como esclerodermia, se designa un grupo de enfermedades y síndromes que tienen como característica común la induración y el engrosamiento cutáneos. El síndrome CREST (calcinosis, fenómeno de Raynaud, alteraciones de la motilidad esofágica, esclerodactilia y telangiectasias) es una forma limitada de esclerodermia. En esta modalidad de la entidad es típico que el síndrome de Raynaud anteceda en años a la presentación del resto de los síntomas de enfermedad. En él pueden aparecer manifestaciones de fibrosis insterticial pulmonar, la cual se evidencia clínicamente por estertores húmedos bibasales, muchas veces sin otra forma de expresión, causa hipertensión pulmonar y fallo miocárdico. Es una enfermedad rara, más frecuente en mujeres que en hombres, de 35 a 50 años de edad. Está descrita en ancianos, pero la forma de CREST es muy infrecuente después de los 25 años. El objetivo fue presentar el caso de una mujer de 55 años de edad con un síndrome de CREST, un cor pulmonale y una evolución favorable. Es una entidad poco frecuente, pero que frente a su evidencia clínica debe insistirse en el diagnóstico positivo. Se trata de un caso interesante pues cursó con hipertensión pulmonar, cor pulmonale y su evolución fue satisfactoria...

As scleroderma are called a group of diseases and syndromes having as a common characteristic the skin hardening and thickening. The CREST syndrome (calcinosis, Raynaud phenomena, alterations of the esophageal motility, sclerodactily and telangiectasia) is a limited form of scleroderma. In this modality of the entity, it is typical that Raynaud syndrome precedes in years the presentation of the rest of the disease symptoms. There may appear manifestations of interstitial pulmonary fibrosis, clinically evidenced by bibasilar humid rales, without any other clinical expression, and it causes pulmonary hypertension and myocardial failure. It is a rare disease, more frequent in women than in men, aged 35 to 50 years. It is described in elder people, but the CREST form is very infrequent after the age of 25. Our aim was presenting the case of a 55-years-old woman with the CREST syndrome, a cor pulmonale and a favorable evolution. It is a rarely frequent entity, but when there are clinical evidences, we should insist in the positive diagnosis. It is an interesting case because she presented pulmonary hypertension, cor pulmonale and developed successfully...