RESUMO
OBJECTIVE: To determine the frequency of the various underlying causes of erythroderma in newborns or infants, as well as which clinical or laboratory findings were relevant for the etiological diagnosis. PATIENTS: Fifty-one patients who presented with exfoliative erythroderma during their first year of life were included in this retrospective study. SETTING: Department of Pediatric Dermatology at a university hospital. RESULTS: On average, the etiological diagnosis was established 11 months after the onset of erythroderma. The underlying causes observed included immunodeficiency (30%), simple or complex ichthyosis (24%), Netherton syndrome (18%), and eczematous or papulosquamous dermatitis (20%). Five patients (10%) had erythroderma of unknown origin. The following parameters were of value in determining the underlying cause of erythroderma: congenital onset, skin induration and the presence of large scaling plaques, alopecia with or without hair dysplasia, evolution, response to topical corticosteroid therapy, presence of infections, and failure to thrive. Histological analysis confirmed the diagnosis in only 19 (45%) of 42 cases. However, it proved of great value for the detection of significant lymphocyte infiltration or keratinocyte necrosis indicating a diagnosis of Omenn syndrome or immunodeficiency. The prognosis was poor in this series: the mortality rate was 16%, and severe dermatosis persisted in 29 (67%) of the survivors. CONCLUSIONS: The etiological diagnosis of neonatal erythroderma is difficult to make; some clinical features may be helpful, but no one feature is characteristic of a cause. An immunodeficiency must be suspected in cases of severe erythroderma with skin induration, severe alopecia, failure to thrive, infectious complications, or evocative histological findings. The prognosis is poor, with a high rate of mortality in immunodeficiency disorders and severe chronic disease in Netherton syndrome and psoriasis.
Assuntos
Dermatite Esfoliativa , Dermatite Esfoliativa/congênito , Dermatite Esfoliativa/diagnóstico , Dermatite Esfoliativa/etiologia , Dermatite Esfoliativa/terapia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: Spindle-cell hemangioendothelioma is a soft tissue skin tumor recently identified histologically. It can occur at all ages but generally is seen in young adults. The lesion usually occurs as a subcutaneous mass involving the limbs. CASE REPORT: A particular case of spindle-cell hemangioendothelioma was observed in an 18-month-old child. The lesions progressed with a monomelic distribution on the upper limb. Histological diagnosis of spindle-cell hemangioendothelioma was achieved at the age of 6 years. DISCUSSION: The age of the patient and the monomelic distribution is particular in this case of spindle-cell hemangioendothelioma, inciting a nosological discussion on this disease and other vascular tumors of childhood and the relationship of these types of lesions with Maffucci's syndrome. Although no anomalies have been detected to date, radiological surveillance is needed as cases of Maffucci's syndrome associated with spindle-cell hemangioendothelioma is described in the literature.
Assuntos
Mãos , Hemangioendotelioma/patologia , Neoplasias Cutâneas/patologia , Humanos , Lactente , Masculino , Invasividade Neoplásica , PrognósticoRESUMO
BACKGROUND: Type I carbohydrate deficient glycoprotein (CDG) syndrome is an inborn hereditary error of metabolism with a broad clinical spectrum. It is characterized by partial N-glycan deficiency of glycoproteins. Skin features may be part of this syndrome in infancy. CASE REPORT: A male infant failed to thrive, presenting psychomotor retardation, liver disease and multiple biological abnormalities. Very suggestive prominent skin manifestations were noted including abnormal subcutaneous fat with lipoma-like pads on the lower back and buttocks, thickened orange-peel skin on the limbs, thinned proximal knuckles, inverted nipples. Deficient serum transferrin sialylation and phosphomannomutase deficiency were identified confirming type I CDG syndrome. DISCUSSION: Although inconstantly present, skin manifestations of type I CDG syndrome are very suggestive and may be the inaugural signs of the disease.
Assuntos
Defeitos Congênitos da Glicosilação/diagnóstico , Dermatopatias/diagnóstico , Proteína de Transporte de Acila/metabolismo , Biópsia , Defeitos Congênitos da Glicosilação/metabolismo , Diagnóstico Diferencial , Glicosilação , Humanos , Lactente , Fígado/patologia , Masculino , Fosfoglucomutase/metabolismo , Fosfotransferases (Fosfomutases)/deficiênciaRESUMO
INTRODUCTION: We report a severe lichenoid drug eruption due to gold salts which relapsed 8 months after the cessation of chrysotherapy. CASE REPORT: A 56 year old man, 3 months after the beginning of a gold sodium propanol sulfonate therapy, developed a polymorphous eruption with violin papules on the trunk, eczematous lesions on the limbs and erosive stomatitis. Gold salts were definitively withdrawn. We saw the patient four months after gold therapy cessation: the eruption remained and diagnosis of severe drug cutaneo-mucous lichenoid eruption was done. We saw thereafter the patient again, 8 months after gold therapy cessation: the eruption had relapsed, more intense. DISCUSSION: We suggest that lichenoid eruption, first caused by gold salts, has become autonomous.
Assuntos
Antirreumáticos/efeitos adversos , Erupções Liquenoides/induzido quimicamente , Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Dorso , Humanos , Erupções Liquenoides/patologia , Masculino , Pessoa de Meia-Idade , Compostos Organoáuricos , Recidiva , Dermatoses do Couro Cabeludo/induzido quimicamente , Estomatite/induzido quimicamenteRESUMO
INTRODUCTION: Purtilo's syndrome or X-linked lymphoproliferative syndrome (XLP) is a rare genetic disorder affecting boys who have a selective immunodeficit towards Epstein Barr Virus (EBV) and who develop extremely severe forms of EBV infection, of which there are four major types: severe or fatal infectious mononucleosis (60 p. 100), lymphoma (23 p. 100), acquired hypo- or agamaglobulinemia (25 p. 100) and anemia or pancytopenia. We report a case of vasculitis (cutaneous and neurologic) which led to the discovery of a selective immunodeficit towards EBV, similar to Purtilo's syndrome. CASE REPORT: A 17 year-old male with no significant past medical history presented with an eruption initially felt to be consistent with pityriasis lichenoid. Treatment with erythromycin was initiated, this did not prevent the subsequent eruptions of cutaneous vasculitis lesions which were severe, prolonged, debilitating, and associated with fever and general deterioration of the patient condition. All etiologic studies were negative. A course of systemic corticosteroids was begun, but the cutaneous eruptions persisted; and in addition the patient developed signs of polyneuropathy in the lower extremities secondary to neurologic vasculitic lesions. New studies revealed an abnormal EBV serology (absence of anti-EBNA antibodies) as well as hypogammaglobulinemia, suggestive of a selective immunodeficit towards EBV resembling Purtilo's syndrome. DISCUSSION: In our patient, the development of an extensive vasculitis, characterized histologically by an intense lymphocytic infiltrate, positive for EBV, associated with hypogammaglobulinemia, and with abnormal serology suggests an anomaly in the immune response to EBV. Although the age of the patient and absence of family history make the Purtilo's syndrome uncertain, the nature of the immunodeficit is very similar and the patient could well develop a lymphoma. This case is significant in that the disease initially manifested itself as a cutaneous vasculitis, which was not been described previously.
Assuntos
Infecções por Herpesviridae/complicações , Herpesvirus Humano 4/imunologia , Síndromes de Imunodeficiência/complicações , Dermatopatias Vasculares/etiologia , Vasculite/etiologia , Adolescente , Infecções por Herpesviridae/genética , Infecções por Herpesviridae/imunologia , Infecções por Herpesviridae/terapia , Humanos , Síndromes de Imunodeficiência/genética , Masculino , Dermatopatias Vasculares/imunologia , Dermatopatias Vasculares/patologia , Dermatopatias Vasculares/terapia , Síndrome , Falha de TratamentoRESUMO
BACKGROUND: Scleroderma is uncommon in childhood. The aim of our study was to analyze the frequency of different clinical forms, their prognostic significance, biological features, and co-morbidities and to assess the pertinence of therapeutic options. PATIENTS AND METHODS: The files of 70 children with primary scleroderma seen from 1980 to 1997 were retrospectively reviewed. RESULTS: Localized scleroderma was observed in 56 children and diffuse lesions in 14. Localized scleroderma (44 girls, 12 boys) began early at a mean age of 7 years 2 months. The lesions presented as isolated bands (39 p. 100), associated with morphea (36 p. 100), or multiple morphea (5 p. 100). Mean duration of the clinical course was longer in cases with more and deeper lesions. Eosinophilia was observed at onset in 38 p. 100 of the cases and antinuclear antibodies were found in 28 p. 100. Local corticosteroid therapy (level I or II) appeared to be useful in the superficial and active lesions (morphea) but did not halt progression to deep scleroderma. General corticosteroid therapy (1 mg/kg/24 h) did not prevent the development of sequelae in cases with bands (16/16). Diffuse scleroderma corresponded to systemic scleroderma (6 cases), dual morbidity (dermatomyositis, mixed connective tissue disease) (6 cases), or scleroderma after eosinophil fasciitis (2 cases). Age at onset was around 9 years with female predominance. A particular gloves and socks form was observed and cardiac involvement was common, but there was no case of renal involvement. The therapeutic problems were similar to those in adults. DISCUSSION: Our findings emphasize that scleroderma occurs readily in childhood, unlike what has been reported 10 years ago. Prognosis depends on functional impairment resulting from major sequelae particularly important in localized forms and the life-threatening situations occurring in systemic forms.