Case of congenital esophageal stricture by ganglioneuroma and acro-flexural hyperpigmentation: a coincidence?

Congenital hyperpigmentation in the acro-genital area and simultaneous occurrence of ganglioneuroma in the esophagus have yet to be reported. Herein, we report a 4-month-old girl presenting with feeding difficulty by esophageal ganglioneuroma and symmetrically distributed brown pigmented patches on the lips, axillae, dorsa of fingers and toes, and genital area. Although the esophageal stricture was resolved by surgical removal of ganglioneuroma, her skin manifestations remained for over 2 years.

[Ganglioneuroma in a newborn with early inborn syphilis].

A case is reported of a retroperitoneal sympathic nodes ganglioneuroma in a newborn with classic early inborn syphilis involving practically all systems of the viscera, skin, placenta. Some peculiar morphological features of the tumour are described. Possible teratogenic and oncogenic effects of treponema pallidus on embryonal fetal structures during intrauterine development are suggested.

Adnexal-centered giant congenital melanocyte nevus with extensive ganglioneuromatous component and trisomy 7.

Adequate interpretation of clinical and histopathologic features of giant congenital melanocytic nevus (GCMN) in newborns is a continued challenge. A GCMN with three large nodules and three polypoid exophytic tumors presented in the dorsum of a female full-term newborn, the borders exhibiting a spotted grouped pattern. Microscopic examination revealed a peculiar adnexal-centered (eccrine sweat gland ducts, acrosiringia, and hair infundibula) compound nevus expressing pagetoid intraepidermal spreading of epithelioid melanocytes. The nodules represented an extensive ganglioneuromatous component. The neurons and their neuropil were positive for neuron-specific enolase, S-100, synaptophysin, tyrosine hydroxilase, and PGP 9.5. In addition to these components, a poorly differentiated, fusiform, low-mitotic rate population of cells undergoing epithelioid differentiation (and probably neuronal differentiation) with nodular arrangement was also present in the polypoid tumors and deeper parts of the nevus, in part intermixed with the neurons. These cells were vimentin positive but S-100 negative. FISH studies revealed these cells to express three signals for the centromeric probe for chromosome 7 whereas the neuronal component showed just two. Adnexal-centered arrangement of melanocytes has not been emphasized in GCMN. Ganglioneuromatous differentiation has been rarely reported in this condition. Trisomy 7 in GCMN has been reported only once previously.

Ectomesenchymoma: one or two tumors? Case report and review of the literature.

Ectomesenchymoma has not previously been reported in a patient with the cutaneous nevus syndrome. A case of perineal ectomesenchymoma is presented with unusual cytogenetic findings. The significance of these is discussed and the world literature reviewed. This is the first such case reported.

Primary congenital cutaneous ganglioneuroma.

Cutaneous ganglioneuroma is rare. Only five cases have been reported, and in all patients the lesions developed after birth. We describe a congenital cutaneous ganglioneuroma. The differential diagnosis includes well-differentiated cutaneous metastases of neuroblastoma and ganglion cells entrapped by a neurofibroma in patients with neurofibromatosis.

[Intestinal ganglioneuromatosis: histochemical, histoenzymological and ultrastructural study of a case]. / La ganglioneuromatose intestinale: étude histochimique, histo-enzymologique et ultrastructurale d'une observation.

Report of a child with disseminated ganglioneuromatosis of the gut. The complexity of the intestinal nervous system malformation is proved by histochemical, histoenzymological and ultrastructural studies. The malformation is characterized by: hyperplasia and hypertrophy of enteric plexus and nerves bundles in the meso, high acetylcholinesterase activity, aplasia of the sympathetic innervation with the exception of perivascular plexus, qualitative and likely quantitative integrity of the endocrine digestive system. These data are compared with similar observations in the literature.

Dysplastic gangliocytoma of the cerebellum--an ultrastructural study.

A case of dysplastic gangliocytoma of the cerebellum, a rare disorder with unknown etiology and pathogenesis, was studied ultrastructurally. The intranuclear inclusions identified were not seen to be of viral origin. The ultrastructural characteristics of the abnormal cells support the prevailing theory that these cells represent hypertrophied granular neurons.