The case report of a female child born preterm (30th wk of gestation) who developed symptoms of Cushing's syndrome beginning in the neonatal phase is presented. The disease was caused by a unilateral adreno-cortical nodular hyperplasia and was successfully treated by unilateral adrenalectomy. Preoperative treatment with ketoconazole and metyrapone proved to be effective. Symptoms of Cushing's disease including hypertrophic cardiomyopathy were completely reversible within one month after surgery.

Adrenal Hyperplasia, Congenital↗

PubMedDate not supplied

Dermal Langerhans' cell tumor in chronic myelomonocytic leukemia.

Disseminated dermal tumors in a 71-year-old male represented the first clinical manifestation of a chronic myelomonocytic leukemia. The dermal infiltrate in one of the nodules consisted predominantly of closely packed pleomorphic Langerhans' cells (LC) with typical Birbeck granules and a strong reactivity for S-100 protein. The simultaneous presence of immature myeloid cells led to the suspicion of an underlying myeloproliferative disorder. The diagnosis of chronic myelomonocytic leukemia was subsequently confirmed by bone marrow histology and blood picture. Although some peritrabecular foci of histiocytic cells were detected in bone marrow, no LC could be identified by electron microscopy and histochemical methods. Tumorous aggregates of LC in myeloproliferative disorders have not been described in the literature. Histiocytosis X and related diseases could be definitely excluded in the present case. This case obviously suggests an interrelation between the myeloproliferative disease and the focal accumulation of LC in the dermis. In animal studies by Katz et al. LC have been shown to originate in the bone marrow, whereas the origin of LC in man is still a matter of discussion. The present case supports the hypothesis that LC in man are also of myeloid origin. The neoplastic blood monocytes could be the precursors of the dermal LC. This differentiation did not take place in the bone marrow but only in the dermis where LC occur under nonneoplastic conditions ("homing").

Aged↗

PubMedDate not supplied

Melanotic neuroectodermal tumor of infancy occurring in the left thigh of a 6-month-old female infant.

We report an exceptional case of melanotic neuroectodermal tumor of infancy (MNTI) occurring in the soft tissue of the left thigh of a 6-month-old female infant. The tumor consisted mainly of small round cells (neuroblasts) arranged in cords and nests that were separated by broad fibrovascular areas. In addition, there were a few medium-sized tumor cells containing melanin pigment (melanocytic cells) that in electron microscopy contained melanosomes as well as tonofilaments. Both tumor cell types immunostained for neuron-specific enolase (NSE) and vimentin, and the melanocytic cells reacted additionally with the antikeratin antibody KL1. Within the tumor stroma, neurofilament- and S-100-protein-positive neural cells and vimentin- and desmin-positive myofibroblasts were seen. Although dense-core granules were demonstrated ultrastructurally in some neuroblasts, no immunostaining for chromogranin A, Leu-7, serotonin, or regulatory peptides was found. MNTI located in an extremity can be confused with malignant small round and blue cell tumors of childhood. The distinction between MNTI and these tumors is of clinical significance because MNTI, in most cases, is a benign tumor that, in contrast to the latter, can be cured by complete excision. The presence of a biphasic cell population with neuroblasts and melanocytic cells must be considered the main diagnostic feature of MNTI.

Female↗

PubMedDate not supplied

P53 protein expression in hepatoblastoma: an immunohistochemical investigation.

Mutations of the p53 tumor suppressor gene with immunohistochemically detectable expression of p53 protein have been described in many different malignant tumors. In this study, 12 hepatoblastomas of various subtypes were investigated immunohistochemically with a monoclonal antibody for the expression of p53 protein. Immunoreactivity for p53 protein was found in both small cell tumors investigated and in embryonal areas in two out of eight tumors, but not fetal (eight tumors) or mesenchymal (four tumors) areas. The findings show that immunohistochemically detectable expression of p53 protein, which generally indicates mutation of the gene, may also be present in hepatoblastoma. The finding of p53 protein immunoreactivity in both of the small cell tumors but none of the fetal areas is consistent with a proposal in the literature concerning the histogenesis and differentiation of the various subtypes---that fetal hepatoblastoma is the most well-differentiated and small cell hepatoblastoma the least well-differentiated subtype.

Hepatoblastoma↗