11/51. Autoimmune hepatitis and systemic sclerosis: a new overlap syndrome? OBJECTIVE: We report the cases of two patients with the complete CREST variant (calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia) of systemic sclerosis (SSc) who developed autoimmune hepatitis. RESULTS: Our findings suggest that autoimmune hepatitis can be considered to be one of the liver manifestations associated with SSc. Our data also indicate that, because liver involvement may precede skin manifestations, evaluation for SSc is appropriate when autoimmune hepatitis is noted, and that the evaluation should include clinical examination, testing for antinuclear antibodies (especially for anticentromere antibodies) and nailfold capillaroscopy. CONCLUSIONS: From a practical point of view, our two cases emphasize that suspicion of autoimmune hepatitis in SSc patients presenting with cytolytic hepatitis will help to achieve both accurate diagnosis and optimal management. ( info) |
| We report a 56-year-old Korean woman with porphyria cutanea tarda (PCT), showing multiple scarring bullae and hypertrichosis on sun-exposed areas of skin with postinflammatory hyperpigmentation. Sclerodermoid changes were also found on both hands, the face and neck. The patient had suffered from crest syndrome, manifesting with Raynaud's phenomenon and sclerodactyly, for more than 15 years. Anticentromere antibody was positive. She had presented with splenomegaly 3 years before the development of PCT, and was diagnosed as having idiopathic myelofibrosis, based on bone marrow biopsy. In summary, she had had crest syndrome for 15 years and later developed idiopathic myelofibrosis and PCT. This is the first reported case of PCT in association with idiopathic myelofibrosis and crest syndrome. ( info) |
13/51. Disproportionately severe calcinosis cutis in an 88-year-old patient with crest syndrome. An 88-year-old woman with crest syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias) presented with hyperglycemia, intravascular depletion, and atrial fibrillation. The patient was found to have unusually severe calcinosis cutis in both legs extending from the knees to the ankles bilaterally, as well as Raynaud's phenomenon, sclerodactyly, and telangiectasias. The patient was normocalcemic and normophosphatemic. Although subcutaneous calcification is often seen with crest syndrome, this case is unusual in that the area of involvement was much larger than previously described. Furthermore, the amount of calcinosis was disproportionately severe and was the major cause of symptoms and disability compared with the other components of the syndrome. ( info) |
14/51. The diagnostic quandary of hereditary haemorrhagic telangiectasia vs. crest syndrome. The distribution and clinical appearance of the telangiectasia in the crest syndrome (calcinosis, Raynaud's phenomenon, oesophageal involvement, sclerodactyly, telangiectasia) and hereditary haemorrhagic telangiectasia (HHT) are very similar. Several previously reported cases of the crest syndrome simulating HHT illustrate this diagnostic quandary. We report a patient who met the diagnostic criteria for both the crest syndrome and HHT, and discuss the distinguishing features of the two diseases, including the distinctive histopathological findings of telangiectasia in HHT. ( info) |
| Pulmonary arterial hypertension (PAH) is commonly associated with the CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia) syndrome. Inhaled nitric oxide (iNO) is often used to assess acute vasoresponsiveness in patients with PAH, and reports of adverse reactions have been infrequent. We describe two of nine patients with PAH and crest syndrome who had pulmonary edema develop during acute iNO testing. This complication was not encountered in the 46 patients with other forms of PAH tested with iNO. We suggest that iNO should be used with caution, if at all, to test acute vasoreactivity in patients with crest syndrome. ( info) |
16/51. Systemic sclerosis sine scleroderma: is it always the same disease? Report of three patients and discussion. The recent description of a large cohort of patients with the diagnosis of systemic sclerosis sine scleroderma (ssSSc) provided significant progress in our understanding of this entity. The prognosis of patients with ssSSc is, however, very variable, from benign in most cases to rapidly disabling in others. By reporting three new cases and analyzing previously published data, we discuss possible subsets and variants of the disease form. ( info) |
17/51. Primary biliary cirrhosis accompanied by crest syndrome. crest syndrome, a relatively benign, slowly progressive variant of systemic scleroderma consists of calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia. Although the association of this syndrome with primary biliary cirrhosis (PBC) is recognized in women, it has never been described in a man. We report the rare case of a male patient with crest syndrome accompanied by PBC, manifested by acute cholecystitis and mild jaundice. The association of the two conditions is clinically and etiologically important. Clinicians must be aware of this association, sincethe clinical features of crest syndrome may be mild and may be thought to be complications of the underlying liver disease. ( info) |
| bronchiectasis is an uncommon pulmonary manifestation of systemic sclerosis (SSc). We report the case of a 70-year-old woman with crest syndrome and vasculitis who developed multifocal symptomatic bronchiectasis. The bronchiectasis and immunosuppressive therapy precipitated severe lower respiratory tract infection, which was fatal within a few months. The concomitant occurrence of bronchiectasis and SSc raises the possibility of a pathophysiological relationship. Several hypotheses can be put forward to explain the occurrence of bronchial wall damage leading to bronchiectasis. Whatever the mechanism, cases of bronchiectasis in patients with SSc should be reported to make physicians aware of the substantial risk associated with this combination. ( info) |
19/51. Successful palliation and significant remission of cutaneous calcinosis in CREST syndrome with carbon dioxide laser. BACKGROUND: There are few satisfactory medical or surgical therapies for cutaneous calcinosis in connective tissue disorders. OBJECTIVE: carbon dioxide laser vaporization allows precise ablation of superficial dystrophic calcification. This treatment modality was considered because of the severity of our patient's symptoms and failure to respond to various medical therapies. methods: Over a 5-year period, six affected digits received a single treatment with carbon dioxide laser vaporization. RESULTS: Treated digits healed over a 6-week period and led to a significant remission in symptoms. The average remission time for affected digits to date is at least 3 years and has allowed our patient to remain in full-time employment. CONCLUSION: carbon dioxide laser vaporization may offer effective remission of symptoms in cutaneous calcinosis of crest syndrome (including cutaneous calcinosis, Raynaud's phenomenon, sclerodactyly, and telangiectasia). ( info) |
20/51. Multifocal varicella-zoster virus vasculopathy without rash. A 51-year-old woman with crest syndrome (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) developed stepwise progressive focal neurological deficits without zoster rash. Multifocal ischemic infarcts were seen on magnetic resonance imaging, and cerebral angiography revealed focal stenosis of arteries affecting the intracranial circulation. A brain biopsy was nondiagnostic. Virological etiology of the disease was verified by the detection of varicella-zoster virus antibody in cerebrospinal fluid and by reduced serum-cerebrospinal fluid varicella-zoster virus IgG ratios (compared with normally high ratios of total IgG and albumin). Treatment with intravenous acyclovir stabilized but did not significantly improve her neurological deficits. ( info) |