1,720,974 research outputs found
Cutis marmorata telangiectatica congenita. Quatre nouveaux cas et revue de la litterature
No full textCutis marmorata telangiectatica congenita (CMTC) is characterized by a persistent vascular mottling of the skin, usually on the limbs. Four cases (2 males and 2 females) followed up for varying lengths of time are reported. In the first patient, whose vascular lesions were mild, careful re-examination after 10 years revealed some scars. In the second patient the lesions were located on the right side of the body, notably on the leg; 6 years later atrophic scars and a brownish plaque were visible on that leg. In the third patient the lesions occupied almost the entire body, although one side was more affected than the other and hypotrophic; the child's face was asymmetrical because of hypoplasia of the jaw and curvature of the nose; after 1 year the patient's general condition was satisfactory and the skin lesions were less evident but still present. In the fourth patient hypoplasia of a lumbar vertebra was discovered; the skin lesions were similar to those observed in the third patient. Examination of the deep vessels, performed whenever possible, did not show any abnormality, but the possibility of future vascular defects, such as varicosities, must be considered. While some authors emphasize the functional character of the disease, in our opinion the high frequency of multiple associated congenital abnormalities makes CMTC not only a vascular disorder but also a syndrome including other neuroectodermal and mesodermal defects. Therefore, any patient presenting with the cutaneous changes typical of CMTC should be examined with this in mind
Diffuse cutaneous reticulohistiocytosis in a child with tuberous sclerosis
No full textReticulohistiocytosis, a rare disorder occurring almost exclusively in adults, was seen in "pure" diffuse cutaneous form in an 8-year-old boy who had tuberous sclerosis since birth. The clinical features consisted of many papulonodular lesions, located mainly on the trunk and to a lesser extent on the head and limbs. Histologic findings were distinctive. Ultrastructural examination revealed the presence of pleomorphic cytoplasmic inclusions in almost all of the giant histiocytic cells of the infiltrate
Fatal nodular xanthomatosis in an infant
No full textWe describe a unique and puzzling case of a 7-month-old baby with a non-X hypertriglyceridemic histiocytoxanthomatosis. The disease was characterized by a massive nodular eruption that was clinically, histologically, and ultrastructurally consistent with juvenile xanthogranuloma, but it had a rapid, fatal evolution
Hypochromic reticulated streaks in incontinentia pigmenti: an immunohistochemical and ultrastructural study
No full textA 25-year-old woman who recently gave birth to a baby affected by classic lesions of incontinentia pigmenti (IP), had hypochromic, atrophic, and reticulated streaks on both lower limbs. Her personal history was unremarkable for IP, and physical examination revealed no other cutaneous signs of the disease. Immunohistochemical and electron microscopic studies were performed on biopsies obtained from both normal and hypochromic skin of the leg. Hypochromic skin showed epidermal atrophy and lack of adnexae, without significant melanocyte abnormality. As demonstrated by this patient, hypochromic reticulated streaks can represent the only cutaneous marker of IP in adulthood. Careful search for such skin lesions in the mother of a child with IP is essential in order to ascertain whether there is a risk of its occurrence in future offspring
Dermatitis herpetiformis
No full textDermatitis herpetiformis is the oldest of the atypical clinical forms of coeliac disease. It occurs in subjects who are genetically predisposed to abnormally react to the gluten. It is also the most frequent autoimmune bullous disorder of childhood. The females are slightly outnumbered by the males. The average age of onset in children is five years. Pathologically, dermatitis herpetiformis is characterized by microabscesses of polymorphonuclear leukocytes at the top of the dermal papillae and by a concomitant subatrophy of intestinal villi. Granular IgA deposits can be shown at the top of the dermal papillae by direct immunofluorescence. Clinically, the disease is characterized by severe pruritus. After atopic dermatitis, scabies and papular urticaria it is the most frequent disorder among the chronic itchy skin diseases. Morphologically, in childhood the erythematous and papular gyrated, scarcely exudative lesions prevail and are mainly localized on the trunk. Besides the pathological findings and the direct immunofluorescence, the presence of antiendomysium antibodies confirms the diagnosis. The latter investigation is sensible and specific in unveiling the gluten-dependent enteropathy, decreasing the importance of the intestinal biopsy. The treatment of choice of dermatitis herpetiformis is the gluten-free diet, which must be continued for a long period of time or throughout life according to many authors
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