Familial Kufs' disease presenting as a progressive myoclonic epilepsy.

Kufs' disease is the adult form of a group of disorders referred to as neuronal ceroid-lipofuscinosis or Batten's disease. We report here the clinical and anatomopathological features of two young brothers presenting with a progressive myoclonic epilepsy corresponding to type A of the disease according to Berkovic. The first clinical manifestations occurred before 20 years of age. Diagnosis was made in the older brother at autopsy and in the younger brother from a rectal biopsy. In addition to characteristic electron microscopic findings, enlarged neurons showed strong immunoreactivity against subunit c of mitochondrial ATP synthase which has been reported previously in only a few adult cases of neuronal ceroid-lipofuscinosis. An extensive review of the published cases underlines the rarity of this condition, particularly when onset is early.

[Corneofungimetry: A bioassay for dermato-mycology.]. / Corneofungimetría: un bioensayo en dermatomicología.

Corneofungimetry is a bioassay in dermatomycology evaluating the antifungal effect of drugs. It is based on the method of culture of fungi on human stratum corneum harvested by cyanoacrylate skin surface strippings. Using corneofungimetry, it is possible to establish a classification of topical antifungals according to their spectrum of activity and their fungitoxicity. Similarly, the potency of oral antifungals can be evaluated at the level of the stratum corneum.

Treatment of onychomycosis: traditional approaches.

Fungal infections account for approximately 20% of all nail diseases, and the incidence of onychomycosis is increasing. Traditional therapies are often ineffective. The activity, clinical efficacy, pharmacokinetics, and patient acceptability of griseofulvin and ketoconazole, the two "traditional" oral agents, are reviewed and compared with two new agents, terbinafine and itraconazole. Both griseofulvin and ketoconazole are effective in dermatophyte infections but require long-term therapy. Ketoconazole, although also active against Candida species, is restricted in use by a rare incidence of hepatotoxicity. Terbinafine and itraconazole diffuse more rapidly into the stratum corneum and nail and are more effective with short-term treatment.

Structure of the dermis in type VIIC Ehlers-Danlos syndrome.

This report is the first to study histological, immunopathological, ultrastructural, and morphometric aspects of the abnormal structure of the dermis in Ehlers-Danlos syndrome, type VIIc. This disease, resulting from a defect in procollagen peptidase, resembles dermatosparaxis in animals. Dermal cells were abnormal in many aspects, including their large number, their strong argent affinity, and the occasional presence of oligocilia. Factor XIIIa-positive dendrocytes were, however, few in number. The stroma had many tears resulting from the absence of collagen bundles replaced by a loose meshwork of cauliflower fibrils. The mean collagen area, measured from fibrils, was similar to normal, and the individual values of this parameter were inversely related to the form factor that quantifies irregularity in fibril shape. Basement membranes were also defective, with an apparent paucity or focal absence of type IV collagen and laminin. The biology responsible for these many alterations in dermal structure is complex and not yet understood. The many morphological changes seen in Ehlers-Danlos syndrome, type VIIc, underscore the complexity of cell-matrix interactions in establishing a normal dermis.

CD68 and factor XIIIa expressions in granular-cell tumor of the skin.

Immunohistochemical and electron microscopic studies support a Schwann cell origin for most of the granular-cell tumors of the skin. We studied 9 granular-cell tumors by immunohistochemistry, using antibodies to CD68, S-100 proteins, factor XIIIa, L1 antigen, desmin and vimentin. The CD68 monocyte-macrophage-associated lysosomal antigen was expressed in granular cells which however had no Mac 387 reactivity. The 'satellite fibroblasts' were factor XIIIa-positive similarly to dendrocytes and perineurial cells. Our study reveals the lack of specificity of CD68 antibody to identify macrophages. It also presents granular cell tumor of the skin as an exception in the group of schwannomas by the presence of factor XIIIa-positive cells inside the neoplasm.

Nuclear planimetry and DNA flow cytometry of verruga peruana.

Verruga peruana is a vascular hyperplasia that is sometimes histologically mistaken for a malignant neoplasm. An infiltrative pattern with nuclear pleomorphism and mitoses is prominent in some lesions. From a series of lesions of verruga peruana, we selected five atypical lesions, two of them closely resembling epithelioid angiosarcoma. We used histologic criteria as well as morphometry and flow cytometry to further characterize the atypical features of the lesions. Histology and morphometry evidenced marked nuclear pleomorphism. Flow cytometry failed to reveal aneuploidy and disclosed about 10% of the cells to be in the S, G2 and M phase.

Immunohistochemical identification of Penicillium marneffei by monoclonal antibody.

We present an experimental study on the immunohistochemical identification of Penicillium marneffei in paraffin-embedded, formalin-fixed tissue. The monoclonal antibody EB-A1 detects a specific galactomannan that appears to have at least one epitope identical in P. marneffei and Aspergillus sp. This immunohistochemical approach could be useful in the diagnosis of a rare diseae, penicilliosis marneffei, which proves to be difficult to identify by conventional microscopy.

Cutaneous manifestations in systemic trichosporonosis.

Trichosporonosis due to Trichosporon beigelii is increasingly recognized in neutropenic immunocompromised patients. We report the clinical and histological presentation of three cases, as well as a study of the prevalence of T. beigelii colonization of normal-looking skin in patients receiving intensive chemotherapy for cancer.

Oral cyclosporin and alopecia areata.

A 30-year-old woman with severe alopecia areata of the scalp was treated with oral cyclosporin for 3 months. Clinical, histological and immunohistochemical assessments failed to reveal any improvement.

Dendrocytes in verruga peruana and bacillary angiomatosis.

Verruga peruana and bacillary angiomatosis are two cutaneous diseases characterized by angiomatous growths linked to the presence of rickettsia-like organisms. These lesions are currently considered to be endothelial hyperplasias and to share many features. By immunohistochemistry and computerized image analysis, we studied the presence of factor-XIIIa-positive dendrocytes in these lesions and compared our data with similar research in capillary angiomas and normal skin. Other cell lines were studied by Ulex europaeus and by antibodies to the L1 antigen and to the von Willebrand factor. Dendrocytes were identified in the three types of angiomatous growth. They were numerous and appeared plump, but no more dendritic than in normal skin. Verruga peruana and bacillary angiomatosis should therefore be viewed as combined growths of endothelial cells and dendrocytes. The biological link between these two types of cells is emphasized.

Immunohistochemical expression of galactomannan in the cytoplasm of phagocytic cells during invasive aspergillosis.

The monoclonal antibody EB-A1 to galactomannan is apparently specific for detecting Aspergillus species and Penicillium marneffei in formalin-fixed, paraffin-embedded tissues. It reveals hyphae, remnants of filaments, and organisms in the cytoplasm of some phagocytic cells.

Dermal dendrocytes and photochemotherapy.

We studied the fate of dermal dendrocytes in patients treated with psoralens and ultraviolet light by combining immunohistochemistry and computerized image analysis. Factor-XIIIa-positive dermal dendrocytes were found to be altered in these patients. When compared with controls, dermal dendrocytes were often increased in number and had an uneven size and tissue distribution. Their cytoplasm was occasionally fragmented. These changes were more pronounced when early photosclerosis was present. The alterations described probably reflect vascular changes, and may be responsible for immunomodulating actions and disorder of the connective tissue structure induced by ultraviolet light.

Immunohistochemical expression of epidermal growth factor receptors in nuclei of a subpopulation of keratinocytes and sweat gland cells.

We have raised a polyclonal antibody to the 170-kD epidermal growth factor receptor. We found an intercellular pattern of immunoreactivity in the epidermis as well as a positivity of the cytoplasm of keratinocytes and eccrine secretory cells. In some samples, a nuclear labelling was evidenced in these type of cells. There is a close resemblance in the topographical distribution of these cells with nuclear labelling and those synthesizing DNA under phytohaemagglutinin stimulation.