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1.
Arch Pediatr ; 10(5): 442-4, 2003 May.
Artigo em Francês | MEDLINE | ID: mdl-12878339

RESUMO

UNLABELLED: Symptomatic zinc deficiency can occur in exclusively breast-fed infants. We report a case in a preterm infant. CASE REPORT: A 3-months-old exclusively breast-fed premature infant presented with peri-orificial and acral eczematoid lesions. Laboratory investigations revealed lowered zinc levels in the infant's serum and in her mother's milk. A rapid healing occurred after oral zinc supplementation. DISCUSSION: Zinc deficiency in breast-fed infants is a rare disease caused by a low level of zinc in mother's milk. The clinical features resemble those of acrodermatitis enteropathica. Oral zinc supplementation is required until weaning.


Assuntos
Doenças do Prematuro/diagnóstico , Recém-Nascido Prematuro , Zinco/deficiência , Aleitamento Materno , Eczema/etiologia , Feminino , Humanos , Recém-Nascido , Leite Humano/química , Zinco/análise , Zinco/sangue
4.
J Cutan Pathol ; 30(10): 637-40, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14744089

RESUMO

Cutaneous metastases from hepatocellular carcinomas are rare, and their diagnosis may be difficult on histological grounds. We report a case of metastatic hepatocellular carcinoma to the skin that was confirmed immunohistochemically by the expression of a hepatomitochondria-specific antigen detectable on paraffin-embedded sections (Hep Par 1).


Assuntos
Anticorpos Monoclonais , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/secundário , Imunoglobulina G , Neoplasias Hepáticas/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/secundário , Adulto , Carcinoma Hepatocelular/patologia , Feminino , Humanos , Imuno-Histoquímica , Neoplasias Cutâneas/patologia
5.
Dermatology ; 205(1): 60-2, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12145437

RESUMO

We report a localized form of lymphomatoid papulosis (LyP) presenting as pustular papules of the hands. The histopathology revealed a moderate inflammatory infiltrate composed of atypical pleomorphic large lymphocytes with atypical mitosis and large nuclei. Epidermotropism could be observed. These atypical cells expressed CD4 and CD30. Laboratory examinations and bone marrow explorations remained negative. The clinical presentation of this case of LyP is unusual. Only histopathological features allowed to diagnose LyP. The knowledge that LyP may be associated with neoplasia or lymphoma underlines the need for a long-term follow-up of these patients.


Assuntos
Dermatoses da Mão/patologia , Papulose Linfomatoide/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Pele/patologia
7.
Ann Dermatol Venereol ; 128(12): 1343-5, 2001 Dec.
Artigo em Francês | MEDLINE | ID: mdl-11908140

RESUMO

INTRODUCTION: Familial hyperchylomicronemia is a rare autosomal recessive disease caused by lipoprotein lipase deficiency. CASE-REPORT: A nine month-old girl presented with eruptive xanthomas revealing a familial hyperchylomicronemia. No lipoprotein lipase activity was found. DNA analysis revealed a novel homozygous non-sense mutation of the lipoprotein lipase gene at the codon 288. The parents were heterozygous carriers. DISCUSSION: Familial hyperchylomicronemia usually presents with eruptiva xanthomas, abdominal pain, pancreatic manifestation and lipemia retinalis. Papulo-nodular xanthomas occur more frequently in children as in our case. Eighty lipoprotein lipase gene mutations have been recorded to date. The gene locates on chromosome 8. Only 9 non-sense mutations have been described which lead to a truncated protein. In our case, no enzymatic activity was detected probably due to an absence of secretion of the enzyme, even though catalytic activity persisted. The homozygous carrier status leads to hyperchylomicronemia whereas the heterozygote status may lead to mixed hyperlipidemia with an increased risk of atherosclerosis. The screening of lipoprotein lipase gene mutations should be carried out in all families with hyperchylomicronemia, regardless of the presence or absence of xanthomas.


Assuntos
Códon sem Sentido/genética , Hiperlipoproteinemia Tipo I/genética , Lipase Lipoproteica/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 8 , Quilomícrons/sangue , Consanguinidade , Éxons , Feminino , Genes Recessivos , Triagem de Portadores Genéticos , Homozigoto , Humanos , Lactente , Lipase Lipoproteica/deficiência , Lipoproteínas/sangue , Polimorfismo Conformacional de Fita Simples , Doença de Wolman/genética
8.
Dermatology ; 201(4): 287-9, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-11146335

RESUMO

We report the case of a 69-year-old woman who presented a papular eruption on the eyelids. Histological features revealed a tuberculoid granuloma with a central caseating necrosis. Laboratory and radiological investigations revealed no tuberculosis and no systemic granulomatosis. Absence of vascular symptoms, inefficiency of cyclines and histopathological findings excluded granulomatous-type rosacea. Lupus miliaris disseminatus faciei (LMDF) was our final diagnosis. On the basis of our findings and a literature review, we believe that LMDF is an entity distinct from either skin tuberculosis or granulomatous-type rosacea. However, its name is confusing, and we propose to change it to 'facial idiopathic granulomas with regressive evolution (FIGURE)'.


Assuntos
Dermatoses Faciais/patologia , Granuloma/patologia , Lúpus Vulgar/patologia , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Pele/patologia
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