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S Fraitag

Publications and source records attributed to S Fraitag.

At least 55 records · Page 3Linked to original sources
PubMed1996

Skin lesions revealing neonatal acute leukemias with monocytic differentiation. A report of 3 cases.

Acute myelo-monoblastic (AMML) and acute monoblastic (AML) leukemias have a bad prognosis, especially in children when occurring in the first months of life. We report 3 cases of such leukaemias in which skin lesions preceded and revealed the leukemia. For the 3 infants, cutaneous lesions appeared about one month before the other signs of leukaemia (2 AML and 1 AMML). Skin biopsies from all 3 infants revealed a heavy dermic infiltration by large cells with round or irregular vesicular nuclei and abundant pale cytoplasm. These atypical cells did not express any lymphoid markers but reacted strongly with monocytic-macrophagic antibodies (CD68, CD13 and CD14). Two infants were treated by mitoxanthrone and cytarabine with complete remission. The third one was not treated because of a very poor general status. Skin involvement is frequent in these nonlymphoid leukaemias (30% to 50% of cases). In only 7% of cases, leukemic skin lesions precede and reveal the other signs of leukemia by weeks or months. Then, it is very important to repeat the blood cell counts and to biopsy the skin lesions in order to make a diagnosis of leukemia as early as possible.

Cell Differentiation↗
PubMed1996

Detection of t(2;5)(p23;q35) translocation by reverse transcriptase polymerase chain reaction and in situ hybridization in CD30-positive primary cutaneous lymphoma and lymphomatoid papulosis.

The t(2;5) generates a chimeric NPM-ALK transcript encoded by the nucleophosmin NPM gene fused to the anaplastic lymphoma kinase gene ALK. Using a reverse transcriptase nested polymerase chain reaction assay we have detected NPM-ALK transcripts within CD30+ primary cutaneous lymphoma and lymphomatoid papulosis (LP). The t(2;5) was identified in 4 out of 9 CD30+ anaplastic lymphomas and in 1 out of 4 CD30+ pleomorphic lymphomas. Moreover, the t(2;5) was detected in 3 out of 10 LPs. All NPM-ALK-positive lymphomas and 1 NPM-ALK-positive LP exhibited a clonal rearrangement of the T cell receptor gamma-chain gene. The t(2;5) was detected in 2 cases of LP without other evidence for a clonal lymphoid population. To identify cells carrying the t(2;5) translocation, we used immunohistochemistry to detect the ALK-encoded p80 protein and in situ hybridization for the specific detection of NPM-ALK transcripts. Both p80 protein and NPM-ALK transcripts were expressed by anaplastic or large CD30+ lymphoma cells with positive NPM-ALK amplification. The presence of t(2;5) in a subset of CD30+ cutaneous lymphoma and LP may indicate a common pathogenesis with a subset of anaplastic nodal lymphoma.

Adult↗
PubMed1996

[Rothmund-Thomson syndrome with reduced DNA repair capacity].

INTRODUCTION: Rothmund-Thomson syndrome is a genodermatosis associated with early poikilodermal lesions. The condition usually occurs in children. Features include skeletal deformations and increased risk of malignancy. CASE REPORT: A 3 and a half year-old girl with poikilodermal lesions predominating in photoexposed areas presented a rash after exposure to sun. The first manifestations occurred during the first months of life. Examination of DNA repair on a culture of UV irradiated fibroblasts showed reduced DNA repair capacity. DISCUSSION: Other childhood photodermatoses were eliminated by the clinical signs. It would be important to know whether there is a correlation between DNA repair and development of neoplasia in Rothmund-Thomson syndrome.

Child, Preschool↗
PubMed1996

[Scleroderma-like patch on the thigh in infants after vitamin K injection at birth: six observations].

INTRODUCTION: Texier's disease or pseudosclerodermatous reaction after intramuscular injection of vitamin K1 is well known in adults although only 1 report of a case in a newborn was found in the literature. We report 6 cases. CASE REPORTS: Six infants (4 boys, 2 girls) developed "peau d'orange" skin lesions after the age of 6 months which was localized in the lower third of the medial aspect of the thigh. Initial rapid locoregional extension was followed by stabilization and then regression. In all 6 cases, histology showed lesions of the fascia and/or the deep hypoderma associated with variable mononuclear inflammatory infiltration and hyalin fibrosis. When performed, immunological studies (complement fixation, search for autoantibodies) were always negative or normal. No visceral involvement was found. DISCUSSION: A pseudosclerodermatous lesion of the lower third of the thigh occurred in 6 infants at the site of an intramuscular injection of vitamin K1 administered at birth. The history, clinical manifestations, histology and outcome of these cases are compatible with the diagnosis of Texier's disease. We discuss the role of the solvent in the Roche vitamin K1 injection. The pathogenesis of this side effect remains unknown. CONCLUSION: Texier's disease in infants after injection of vitamin K1 at birth is a stereotypic dermatosis. Diagnosis is based on history and clinical presentation. The causal effect of injectable vitamin K1 should be entertained whenever pseudosclerodermatous lesions are observed in a young child.

Antifibrinolytic Agents↗
PubMed1996

[Giant congenital blue nevus of the scalp].

INTRODUCTION: Blue nevi are small acquired melanocytic tumors. Two clinical forms are described, a fibrous form and a cellular form. Giant nevi are exceptional. CASE REPORT: We describe a patient with a giant blue nevus of the scalp. In addition to this congenital, noninvasive tumor the patient presented numerous cutaneous melanocytic nevi. The main lesion was removed by surgical exeresis followed later with reconstruction plasty. The histological examination of the surgical specimen showed an infiltrating blue cell nevi. After a 4-year follow-up, there has been no recurrence and no metastasis. DISCUSSION: There have been 11 cases of giant blue nevi reported in the literature. All were congenital lesions with polymorphous clinical and histological aspects. Fibrous forms are noninvasive and cellular forms have a potential for local invasion, whether shortly after birth or later with invasion of muscles, bone and meninges without intracerebral extension. Congenital blue nevi require early surgical exeresis.

Child, Preschool↗
PubMed1995

Expression of GM-CSF receptor by Langerhans' cell histiocytosis cells.

Langerhans' cell histiocytosis (LCH) is characterized by the proliferation of large mononucleated cells containing Birbeck granules and expressing CD1a. Recent studies have demonstrated that LCH is a clonal proliferation; however, its aetiology is still unknown. Growth and differentiation of bone-marrow-derived cells are controlled by cytokines. The proliferation, differentiation and activation of normal Langerhans cells are controlled by granulocyte/macrophage colony-stimulating factor (GM-CSF) in vitro. Therefore, GM-CSF could be implicated in the pathogenesis of LCH. Indeed, LCH cells contain GM-CSF, and children with disseminated LCH have an elevated GM-CSF serum level. As a cytokine only acts on cells expressing a specific receptor, we investigated the presence of GM-CSF receptor on LCH cells. Fourteen frozen tissue samples from children with LCH were studied by in situ immunohistochemistry with two mouse monoclonal antibodies specific for the alpha chain of the GM-CSF receptor (CDw116). LCH cells of all the samples were positively stained with both antibodies. This study suggests that GM-CSF may be a growth factor for LCH cells.

Animals↗
PubMed1995

Langerhans' cell histiocytosis. Definitive diagnosis with the use of monoclonal antibody O10 on routinely paraffin-embedded samples.

The histological and immunohistochemical findings of 34 biopsy specimens from patients with Langerhans' cell histiocytosis (LCH) are reported, with special emphasis on the findings with CD1a mouse monoclonal antibody (MAb) O10 using paraffin-embedded material. Eighteen patients were treated in an adult hospital (mean age, 26.3 years), and the 16 others were children (mean age, 3 years) from a pediatric center. Specimens included 17 bone, 14 skin, two lung, and one lymph node. Tissue was fixed in formalin or Bouin's, and most bone samples were decalcified in nitric acid. Frozen sections were available for 16 cases and electron microscopy for one. Light microscopy was suggestive of LCH in all cases, characterized by large mononucleated cells with abundant eosinophilic cytoplasm and "coffee bean" nucleus. In 33 of the 34 paraffin-embedded LCH samples, mononucleate cells were stained by MAb O10. As controls, we investigated seven tumors expressing S-100 protein (three nevi, two melanomas, two neurofibromas): all were negative with MAb O10. Five non-Langerhans' cell histiocytoses (three juvenile xanthogranulomas and two Rosai-Dorfman lymphadenopathies) were also negative with MAb O10. The results show that in most cases a definitive diagnosis of LCH can be assessed on paraffin-embedded tissue specimens with the help of immunohistochemistry using MAb O10.

Adult↗
PubMed1995

[Cutaneous granulomatous lesions in congenital immune deficiencies. 5 cases].

INTRODUCTION: Cutaneous granulomatous lesions rarely occur in primary immunodeficiency syndromes. CASES REPORTS: We observed chronic granulomatous lesions on the skin of 5 children with inborn immunodeficiency syndromes. The deficiency was of the mixed type in all 5 cases and included major hypogammaglobulinaemia in 4. Erythemato-squamous infiltrated plaques were found in 4 children and erythematous nodules in the fifth. Extra-cutaneous lesions (cavum and rectocolon) occurred in 2 children. Search for an infectious cause was negative. Anti-tuberculosis drugs were tried in 3 children as a test regimen and were ineffective. Systemic corticosteroids gave major clinical improvement in 2 children. DISCUSSION: Several pathogenic processes have been hypothesized to explain the development of granulomatous lesions in immunodeficiency syndromes. The action of an unknown infectious agent has been suspected. An intrinsic anomaly in immune function regulation, particularly in a disequilibrium in the complex cytokine network controlling the formation of granulomas could also be involved. Systemic corticosteroid therapy appears to be effective but must be given with caution in these patients with immune deficiency.

Child↗
PubMed1995

[Ultrastructural study of hereditary benign telangiectasia. Differential diagnosis from Osler Rendu disease].

INTRODUCTION: There are two hereditary forms of primary telangiectasia with a totally opposite prognosis. In Rendu-Osler disease, also called hereditary haemorrhagic telangiectasia, there is a major risk of severe haemorrhage in adults. In benign hereditary telangiectasia there is no such risk. CASE REPORT: We report two brothers who were diagnosed as having Rendu-Osler disease. Under standard electron microscopy, a biopsy of a telangiectasia taken from the right arm pit showed that the vessels of the superficial reticular derma were dilated with thick walls but no dehiscences as in Rendu-Osler disease. DISCUSSION: This ultrastructure explains why there had been no haemorrhages in our two cases and favoured a diagnosis of hereditary benign telangiectasia.

Child↗
PubMed1995

[Cutaneous transformation of chronic lymphoid leukemia into immunoblastic lymphoma. Cutaneous manifestation of Richter syndrome].

INTRODUCTION: Richter's syndrome is a large-cell lymphoma occurring in patients with chronic lymphoid leukaemia (CLL). It is rarely limited to cutaneous locations. We report the case of a 61-year-old patient with CLL who developed multiple skin lesions due to immunoblastic lymphoma. CASE REPORT: Six years after onset of CLL controlled by chloraminophen, a tumoural syndrome developed and was treated by chemotherapy. A papulonecrotic cutaneous eruption was then observed on the face, the presternal area and then on the fingers. Skin biopsy revealed large-cell CD20+ CD30+ immunoblastic lymphoma. Polymerase chain reaction on the heavy chain immunoglobulins showed a band with the same size in the skin biopsy and in the circulating cells. No transformation was found in lymph node and bone marrow biopsies. The lesions disappeared after 4 treatments with VP16, cysplatin and methylprednisolone. CLL was again stabilized after the first chemotherapy sessions. DISCUSSION: Richter's syndrome is rarely discovered due to skin lesions. There have only been 4 similar cases reported in the literature. The clinical presentation of the lesions is insufficient to distinguish them from manifestations of CLL. Histological examination of the biopsy is required to make the diagnosis of high grade lymphoma. Prognosis is usually poor after discover of this type of lymphoma. This is the first observation of Richter's syndrome revealed by a skin lesion in which polymerase chain reaction suggested that the skin lymphoma and the CLL cells came from the same B clone.

Humans↗
PubMed1994

Langerhans' cell histiocytosis cells are activated Langerhans' cells.

Langerhans' cell histiocytosis (LCH) is characterized by the presence of large mononucleated cells, associated with inflammatory cells. The Langerhans' cell (LC) lineage of the mononucleated cells is suggested by the presence of Birbeck granules and the expression of CD1a. We investigated the presence of 14 markers expressed by normal LCs in vitro. Nine skin and one lymph node frozen biopsies of LCH children were analysed by in situ immunohistochemistry. The data were compared with six skin and five lymph node frozen biopsies. LCH cells of the ten samples were positive for all 14 LC markers. We observed three different groups of markers, according to the respective staining of normal LCs and LCH cells. Group 1 included DR, DQ, CD1a, CD1c, and ICAM-3. Markers of group 1 were present on the majority of both normal LCs and LCH cells. Group 2 included CD1b, CD4, LFA-1, LFA-3, CD32, and CD68. Markers of group 2 were detected on the majority of LCH cells, but only on a fraction of normal LCs. Group 3 included CD11b, CD24, and B7/BB1. Markers of this group were detected on LCH cells, but not on normal LCs. This in situ immunohistochemical study confirms that LCH cells belong to the LC lineage. The different clinical LCH syndromes had the same immunohistochemical staining. The expression of some markers of groups 2 and 3 is known to be related to the activation of LCs in vitro. Our study suggests that LCH cells are activated LCs.

Antibodies, Monoclonal↗
PubMed1994

Partial albinism with immunodeficiency (Griscelli syndrome).

Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. To define the phenotype, therapy, and outcome, we retrospectively analyzed seven consecutive patients. Primary abnormalities included a silvery-grayish sheen to the hair, large pigment agglomerations in hair shafts, and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. Clinical onset occurred between the ages of 4 months and 4 years and was characterized by accelerated phases (lymphohistiocytic infiltration of multiple organs, including the brain and the meninges), triggered by viral and bacterial infections. Characteristic laboratory features included pancytopenia, hypofibrinogenemia, hypertriglyceridemia, and hypoproteinemia. Consistent immunologic abnormalities were characterized by absent delayed-type cutaneous hypersensitivity and impaired natural killer cell function. Some patients had secondary hypogammaglobulinemia, impaired major histocompatibility complex-mediated cytotoxic effects, a decreased capacity of lymphocytes to trigger a mixed lymphocyte reaction, or various functional granulocytic abnormalities. The disease seems to be invariably lethal without bone marrow transplantation; the mean age at the time of death was 5 years. Bone marrow transplantation has been performed in three cases; two patients died in the immediate posttransplantation period of infectious complications, but one patient is cured after a follow-up of 5 years. We conclude that partial albinism with immunodeficiency (Griscelli syndrome) can be differentiated from Chédiak-Higashi syndrome by pathognomonic histologic features. One of the underlying immunologic defects may be a defective function of natural killer cells, predisposing the patient to virus-associated hemophagocytic syndrome or accelerated phases. The prognosis is very poor unless early bone marrow transplantation is carried out.

Adrenal Cortex Hormones↗