[Universal dyschromatosis: a familial case]. / Dyschromatose universelle: une observation familiale.

INTRODUCTION: Universal dyschromatosis is a generalized leucomelanodermia recognised in Japan in 1933. We report a family with universal dyschromatosis, demonstrating the mode of transmission. The ultrastructural aspects are compatible with a functional melanogenesis anomaly. CASE REPORT: A 9-year-old girl was hospitalized for recently diagnosed insulin-dependent diabetes mellitus. She was born to non-consanguinous parents and her past medical history was uneventful. Her father was of mixed ethnic origin. The physical examination revealed generalized leukomelanoderma identified since the first year of life. Zones of small achromatic maculae alternated with zones of pigmented maculae of variable size and color. Lesions were diffuse but predominated on the trunk and did not involve the face, the hands or the feet. Neither the child nor her father who also has leukomelanoderma were photosensitive. A skin biopsy from the gluteal region revealed alternating zones of hyper- and hypopigmentation. The ultrastructural analysis showed that the number of melanocytes was not significantly different in the different pigmented zones and the pigment transfer to adjacent keratinocytes was intact. There were three other girls in the kinhood and two, as well as a few other individuals in the family, had a localized form of the disease. DISCUSSION: Universal dyschromatosis is a rare genodermatosis. The familial cases reported here illustrate the variable clinical presentations of this pigmentary abnormality. The pedigree in this family demonstrated incomplete penetrance of hereditary leukomelanoderma with autosomal dominant inheritance. The localized forms reported to date under different names would actually appear to correspond to incomplete expression of the dermatosis. The skin manifestations in universal dyschromatosis would appear to be similar to those in a few other skin diseases, mainly xeroderma pigmentosum, especially the localized forms; for generalized forms however, there is little room for confusion as photosensitivity is absent and lesions predominate in unexposed zones. The ultrastructure investigations showed different levels of melanocyte activity without abnormal pigment production or transfer. This abnormality has variable expression, explaining the multitude of clinical presentations.

[Maternal fetal choriocarcinoma after normal delivery]. / Choriocarcinome materno-foetal après accouchement normal.

Materno-fetal choriocarcinoma discovered after a normal delivery is very rare. The risks for choriocarcinoma after a pregnancy at term is estimated at 1 in 100,000. All the same the ease with which the diagnosis is made by levels of plasma beta-hCG makes it possible to think of this possibility after delivery when there is maternal pathology which cannot be diagnosed or a fetal tumour that cannot be labelled. The transmission of this illness from mother to fetus evokes discussion about the tolerance of an allograft.

[Shwachman's syndrome with neonatal thoracic manifestations]. / Syndrome de Shwachman à manifestations thoraciques néonatales.

The authors report a case of Shwachman's syndrome in whom neonatal respiratory distress was the initial manifestation. Metaphyseal dysplasia, which was severe at birth, progressively disappeared. By the age of 10 years, radiologic anomalies persist only in the pelvis.

[Myoglobinuria following anesthesia (author's transl)]. / Myoglobinurie post-anesthésique.

In a 11 1/2 year-old boy, acute myolysis with myoglobinuria followed anesthesia and had a favourable outcome. Biological signs of myolysis, without clinical symptoms seem to be frequent after Halothane-succinylcholine anesthesia. They are even more frequent in children, especially when succinylcholine is repeatedly given during Halothane anesthesia. Patient clinical symptoms (visible myoglobinuria, pain and/or paralysis) are rare and occur chiefly in children with chronic muscular disease, in whom they may be the presenting symptoms.