[Hyper-IgE syndrome and recurrent infections (Buckley syndrome). Association with genu varum].
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Biomedical subjects
Publications and source records attributed to G Lorette.
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Serotonin-storing cells are distributed in all tissues derived from cloaca. They were observed in the cavernous portion of penile urethra whereas they were absent from the glans portion. Serotonin cells were detected in several morphologic varieties of median raphe cysts. It is suggested that these cysts arise from the endodermal part of urethra.
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The first patient suffered from a very severe atopic dermatitis with intense pruritus and thickened skin. He had also recurrent infections, particularly related to Staphylococcus coagulase +, and axillary and inguinal lymphodermopathy. The use of tetracosactide given intramuscularly allowed controlling the evolution of his atopic dermatitis. After several months of treatment, the skin became less infiltrated, lymphodermopathy disappeared and no severe infection had happened. The second patient had a less severe atopic dermatitis and recurrent infections without any particular severity. Topical corticosteroids allowed to control the atopic dermatitis. These two patients had high levels of circulating IgE and an important deficiency of polymorphonuclear chemotaxis which was evaluated by migration through boyden room. Study of the family showed atopic manifestations in several members, but with lower levels of IgE. The most characteristic abnormality of this syndrome is the according to considerable increase of IgE. The deficit in polymorphonuclear chemotaxis may vary according to time and even become normal. The prognosis over long periods remains to be determined.
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Hereditary osteodystrophy of Albright's is a set of hereditary dystrophies associated or not with renal and bony resistance to the parathyroid hormone. Two observations of a true brotherhood are reported. These two patients had in common: short stature, obesity (especially facio-troncular), round face, flat and saddled nose, short neck, early cataract and mental deficiency. One of them showed fourth metacarpals. In these two cases there were cutaneous ossifications, markedly profuse on one of them than the other. These ossifications are a frequent manifestation of the osteodystrophy of Albright's. They appear as cutaneous nodules on any part of the body and are visible, palpable and present on X-ray examination. These ossifications share other phenotypic expressions of the disease and do not seem to be related to the resistance against parathyroid hormone.
Schistosoma mekongi, a parasite of the dog which is endemic in small foci along the Mikong river, is rarely seen in Europe. A case of schistosomiasis caused by S mekongi was recently seen in France, in a native of Laos who had been living in Thailand. He was admitted for treatment of previous diagnosed tuberculoid leprosy but was found to have hepatosplenomegaly, with a high eosinophil count and high bilirubin concentrations. Serological examination suggested schistosomiasis, but there were no parasites in the urine and the rectal mucosa looked normal on endoscopy. Nevertheless, rectal biopsy showed schistosomal proctitis and many ova of S mekongi. Two courses of praziquantel cleared the ova from his rectal mucosa. Although serological examination using S mansoni antigen suggested schistosomiasis, only biopsy of normal looking rectal mucosa allowed the diagnosis to established.
Four cases of Pityriasis Rubra Pilaris of an acute type have been studied in three to six year old children. In three cases the disease occurred after an infection; in one out of these three cases this infection was serologically confirmed as being german measles. In the beginning, only the face is affected or the face and other part of the body. The rash looks like scarlet fever and the folicular papules appear only during the second stage. The dermatosis usually spreads within a month (from twenty days to two months) and covers the whole body without becoming erythrodermic. Then clinical picture is typical of Pityriasis Rubra Pilaris. There are no associated symptoms and no hypo-vitaminemia A is evidenced. The evolution is self limited with a spontaneous regression within three months, and there is no recurrence. These cases are similar to the classical juvenile Pityriasis Rubra Pilaris type III of Griffiths, but they keep their own particularities as far as acute evolution and good prognosis are concerned.
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Two cases of skin carcinoma which display endocrine differentiation are reported. In the relevant literature, these neoplasms are considered to be of Merkel cells lineage. These two carcinomas demonstrated salient morphological features. The first tumor contained small aggregates of cells with a deeply indented nucleus. It is postulated that these formations represent foci of Merkel cells maturation. It is suggested that this distinctive focal histological feature may permit recognition of these neoplasms. The second tumor exhibited an admixture of endocrine and epidermoid differentiation. Such observations prompt us to postulate that Merkel cells and keratinocytes originate from the same stem cell.
The case-report of an eleven-year-old boy presenting with the association of Stevens-Johnson syndrome and pulmonary symptoms is studied. The course of the disease covered two distinct periods since a one-month interval occurred between the two cutaneo-mucous and pulmonary episodes. Mycoplasma Pneumoniae infection was confirmed by positive seroconversion. The child recovered without sequelae. Indirect immunofluorescence transitorily showed anticytoplasmic antibodies directed against basal epidermic cells. These antibodies were not fixed on the lesions as shown by direct immunofluorescence. The possible connexion between Stevens-Johnson syndrome, Mycoplasma Pneumoniae infection and anticytoplasmic antibodies is under discussion.
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A case of Paget's disease of the vulva associated with Paget's disease of the nipple is reported. When the patient was 74-year-old, Paget's disease of the vulva was diagnosed; four years later, Paget's disease of the nipple was detected. Paget's disease of the vulva, although recurrent, is devoid of underlying infiltrating carcinoma. Eccrine sweats glands show different type of lesions consistent with pagetoid extension, in situ carcinoma and epithelial papillary proliferation. Ultrastructural study demonstrates dense granules within Paget's cells. A positive Thiery's cytochemical reaction indicates that these granules contain glycoprotein. Paget's disease of the nipple is associated with an intraductal carcinoma (cribriform type). Some feature of intralobular carcinoma is also observed. No foci of infiltration are found. Oestrogen receptors are detected by the histofluorescence technique of Sin Hang Lee. Few receptors are seen within the intraductal neoplastic cells and within the Paget's cells whereas no receptor at all, are observed within the keratinocytes. Several reports emphasized the relationship between vulvar Paget's disease and infiltrating breast carcinoma. Associated vulvar and nipple Paget's disease is rather rare and was just observed in two cases. These two observations were associated with a mammary infiltrating carcinoma whereas in our case, it remains an in situ carcinoma.