189 research outputs found

    28.2 Patologia degli annessi fetali

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    Vengono trattate le principali patologie degli annessi fetali suddivise in sottocapitoli: 1) Patologia del liquido amniotico 2) Patologie della placenta 3) Patologie delle membrane 4) Patologia del cordone ombelicale 5) Patologia infiammatoria degli annessi fetal

    [Tricholemmal hamartoma]

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    A 23-year-old man with a keratotic-nodular lesion localized on the neck since infancy is reported. Histologically, there was a funnel-shaped follicle with central horny material and multiple digitations of the follicular sheath epithelium with some features resembling dilated pore of Winer. In addition, there were pale dyskeratotic epithelial cells in the infundibular portion of the tumor and in the surrounding epidermis. For this unusual tumor the term of tricholemmal hamartoma is proposed

    Cutaneous metastasis of chordoma.

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    A chordoma metastatic to the skin of the nose is reported. The patient (a 40-year-old man) had undergone excision of a sacral chordoma 16 months previously. In patients whose clinical histories are unknown, cutaneous metastases of chordoma can be confused with mixed tumors of sweat glands. Cytological features, including the presence of physaliphorous cells, and immunohistochemical coexpression of low molecular weight keratins and S-100 protein are helpful features that lead to a correct diagnosis

    Schöpf-Schulz-Passarge syndrome: Further delineation of the phenotype and genetic considerations

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    Schöpf-Schulz-Passarge syndrome is a rare ectodermal dysplasia, characterized chiefly by multiple eyelid apocrine hidrocystomas, palmo-plantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. The clinical spectrum and the most likely inheritance pattern(s) have not yet been completely defined. We report here on two, unrelated patients presenting with additional, previously unreported features, including hypoplastic nipples and optic atrophy. Both individuals were born to consanguineous parents, and one also has affected siblings. A literature review identified 23 additional cases. Multiple eyelid apocrine hidrocystomas, described in all of the cases, are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumours in 44% of affected subjects indicates that Schöpf-Schulz-Passarge is a genodermatosis with skin appendage neoplasms. However, the risk of skin and visceral malignancies is not increased. Pedigree study demonstrates that 9 of the 13 published familial cases may be explained by an autosomal recessive mutation, while the remaining pedigrees show apparent vertical transmission compatible with genetic heterogeneity. The benign disease course and advanced age at diagnosis could also suggest locus homogeneity for a recessive mutation with instances of pseudodominant inheritance
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