[Scleroderma-like lesions and phenylketonuria (PKU). Role of hyperphenylalaninemia, efficacy of diet (3 cases)].
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Biomedical subjects
Publications and source records attributed to D Teillac.
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The authors report the case of a child who, at the age of 18 months showed signs of hypoparathyroidism together with gastrointestinal, then buccal, then ungual candidiasis. Acute adrenal failure occurred when he was 5 1/2 years' old. At the age of 10, the patient developed alopecia areata and interstitial keratitis. Immunological investigations yielded normal results, except that serum was weakly positive for anti-adrenal antibodies at 1/10th. The mucosal and ungual candidiasis infection was cured by ketoconazole, and the various endocrine abnormalities were corrected with the appropriate replacement therapies. This case prompted the authors to review the candidiasis/"polyglandular autoimmune disease" association. Whitaker's triad consists of candidiasis, hypoparathyroidism and chronic renal failure, 2 or these 3 elements being sufficient to make the diagnosis. Numerous other associations have been described; they are presented here in table form in descending order of frequency, with candidiasis/hypoparathyroidism coming on top of the list (70 p. 100). The fairly constant chronological order in which these different pathologies appear is one of the peculiarities of the syndrome: candidiasis often precedes hypoparathyroidism and adrenal insufficiency. Alopecia areata does not seem to be frequent, but its true incidence is difficult to quantify since lesions of the scalp and/or skin appendages are poorly documented in the literature. Alopecia and keratopathy seem to be of autoimmune origin. Mucocutaneous candidiasis too is specific, the mucosae and nails being constantly involved. This type of candidiasis does not exist in other forms of hypoparathyroidism. Chronic mucocutaneous candidiasis is found in many different diseases and is due to immunodeficiency against Candida spp.(ABSTRACT TRUNCATED AT 250 WORDS)
The authors report the case of a 12 year-old boy with exercise-induced anaphylaxis. Angioedema was the main symptom and was accentuated by ingestion of an orange prior to exercise. Exercise-induced anaphylaxis is due to mast cell degranulation that is triggered by exercise alone or, less commonly, by the combination of a sensitizing food and exercise. The symptoms of exercise-induced anaphylaxis may be moderate or severe, with laryngeal dyspnea and shock. Prevention is based on avoidance of the offending food before exercise and a reduction of the intensity (and even the suppression) of exertion.
The authors present their experience with conventional and digital angiography of vascular malformations of the head and neck in children. 22 hemangioendotheliomas, 8 venous angiomas, and 3 arteriovenous fistula were studied. 22 patients were embolised. DSA offers many advantages during the diagnostic as well during the therapeutic phase of angiography. Embolization appears to have a major role in treatment of such vascular malformations.
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Six personal cases of digestive tract involvement in dystrophic recessive epidermolysis bullosa are reported, and the relevant literature is reviewed. The study deals with the clinical aspects of these cases (buccal and dental lesions, digestive symptoms, effects on nutritional status; table I), as well as with their biochemical (table II), radiological and endoscopic aspects (table III, fig. 1 and 2). All patients presented with bucco-dental lesions, including two cases of congenital abnormalities: one with malposition and dysgenesis of the teeth, the other with dysplasia of the enamel in a patient whose dystrophic skin disease was proven by electron microscopic study. The oesophagus was involved in six cases, with tight concentric stenosis (2 cases), retrocricoidal stenosis (1 case) and oesophagitis (2 cases). No gastro-duodenal or intestinal lesions were detected. A case of constipation was related to anal involvement. The patients' nutritional status was investigated clinically and biochemically. A search for intestinal malabsorption by means of specific tests was conducted in 2 patients and proved negative. A study of the literature provided data on the nature and specificity of dental lesions. The morphological features, complications and physiopathology of oesophageal stenoses are described The existence of gastrointestinal lesions is discussed. Nutritional repercussions are presented and their causes are discussed. Attention is paid to the medical and surgical treatments of these lesions.
The authors report 18 children with toxic epidermal necrolysis (T.E.N.). The clinical and laboratory signs, the development of complications and sequelae and the drugs presumed to be responsible are compared with those of T.E.N. in adults. The onset was generally marked by a influenza-like state with development of mucosal signs between the first and the seventh days. The lips and buccal cavity were involved in 16 cases and the eyelids and conjunctiva were involved in 15 cases. Epidermal loss occurred after a variable interval of between one and eight days after the appearance of the erythema. The severity of the epidermal loss, expressed as a percentage of the body surface area, was a poor prognostic factor. Hypoproteinaemia was the most frequently observed laboratory abnormality. The complications were infectious and the 2 deaths in this series were due to septicaemia. Ocular complications were also observed: keratitis, responsible for sequelae such as distichiasis, conjunctival adhesions, sicca syndrome. As in adults, these children were frequently taking multiple drugs. Among the drugs prescribed during the classical interval of imputability, two drugs were particularity noted: phenobarbital and oxyphenbutazone. Treatment should only be undertaken in a specialized unit and is based on the principles of intensive care of burns patients: control of hypovolemia and infection. Ocular sequelae should be prevented by local treatments several times a day.
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An unusual case of cutaneous nodular T cell lymphoma evolving for 4 years with massive eosinophilia and greatly increased IgE levels is discussed. Repeated histologic and immunohistologic examinations could not ascertain malignancy because tumors were composed of a granuloma-like, highly polymorphic cellular infiltrate with mature immunotype and no significant nuclear abnormalities nor epidermotropism. T cell lymphoma was evidenced by the T cell receptor beta-chain gene study, which showed a clonal rearrangement. Final histologic classification was "pleomorphic T cell lymphoma" because further biopsy samples displayed numerous lymphoid cells with pleomorphic convoluted nuclei. The T-cell receptor gene probe is a major tool for the early diagnosis of some T cell lymphomas. The case we report shares many features with the smoldering type of human T cell lymphotropic virus type I-associated Japanese endemic pleomorphic T cell lymphoma. Our virologic study confirms that in nonendemic Western countries, pleomorphic T cell lymphomas do not show evidence of a retrovirus association.
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