Three different autoimmune bullous diseases in one family: is there a common genetic base?

We report an unusual familial occurrence of autoimmune bullous diseases. Three members of a family suffered from three different autoimmune bullous diseases: pemphigus vulgaris (PV), linear IgA disease (LAD) and cicatricial pemphigoid (CP). The HLA type was determined in five family members: all were positive for HLA-DQ5/DR6, which is reported to be associated with susceptibility to PV. The CP patient was DQ7(3) positive, which is in concordance with enhanced susceptibility to ocular CP and CP. The LAD patient was B8 and DR3 negative but positive for HLA-A1. Our study supports the hypothesis that there is a genetically transmitted susceptibility to autoimmune bullous diseases but that additional factors seem necessary actually to develop a particular disease.

Desquamative gingivitis and balanitis--linear IgA disease or cicatricial pemphigoid?

A 38-year-old man presented with gingival inflammation together with erosions of the penis. Direct immunofluorescence demonstrated linear deposits of IgA at the basement membrane zone; indirect immunofluorescence and immunoblotting were negative. Linear IgA disease (LAD) was therefore suspected and treatment with dapsone initiated but this was changed to sulfamethoxy-pyridazine and systemic corticosteroids because of methaemoglobinaemia. During 1-year follow-up the lesions continued to wax and wane although they were never as extensive as before. Eighteen months after disease onset there was scarring of the penis together with suspected fibrosis of the inflamed gingival region. In addition the patient was HLA DQ7(3) positive, a haplotype thought to be increased in patients with cicatricial pemphigoid (CP); LAD with scarring or CP with solely linear IgA deposits are possible diagnoses of his condition.

[Morphology of Malassezia-associated diseases]. / Zur Morphologie der Malassezia-assoziierten Erkrankungen.

Fine-structural investigations were done with surface material and slides of pityriasis versicolor, Malassezia-folliculitis and seborrheic eczema. Aspects of the microorganism Malassezia furfur, such as its presence, its distribution on the skin surface, and its shape, and changes in the host skin tissue, such as the structure of the horny layer and signs of an inflammation were registered. Two main types of Malassezia-associated dermatoses were defined. One type is characterized by a considerable number of microorganisms, adhering to regular cells of the horny layer (exemplified by pityriasis versicolor), the other type is characterized by signs of an inflammation and a very low number of visible fungal cells (exemplified by seborrheic eczema).

Palmar papillomatous lesions reminiscent of epidermal nevus in a case of focal dermal hypoplasia: a nosological consideration.

A 40-year-old woman with focal dermal hypoplasia had a palmar papillomatous lesion showing a linear arrangement and histopathological features compatible with a diagnosis of epidermal nevus. This unusual manifestation of focal dermal hypoplasia is difficult to categorize. Undoubtedly the lesion reflects functional X-chromosome mosaicism. Although the mechanism of lyonization may give rise to true epidermal nevi such as CHILD nevus, we prefer to classify the present skin lesion as a nevoid disorder and not as an epidermal nevus.

Fine structural investigation of Malassezia furfur. II. The envelope of the yeast cells.

The general ultrastructure of the Malassezia furfur cell envelope is shown in a schematic model. Distinct layers such as the outer lamella, the cell wall and the plasma membrane and special structural elements of the cell wall are described and presented in electronmicrographs. Special attention was paid to the outer lamellar layer that seems to be equivalent to a capsule. It probably contains lipids as well as the cell wall, and it seems to participate in attachment processes.

The CHILD nevus: a distinct skin disorder.

BACKGROUND: The CHILD syndrome is characterized by an ichthyosiform and inflammatory nevus showing a strikingly unilateral arrangement. No particular name has so far been given to this nevus, which is why this skin disorder has been described under various inappropriate terms such as epidermal nevus, inflammatory linear verrucous epidermal nevus (ILVEN), unilateral ichthyosiform erythroderma, unilateral ichthyosis or verruciform xanthoma. OBJECTIVE: In order to avoid such confusion and to make it easier for clinicians to recognize this skin disease, a new name should be given to this disorder, and the diagnostic criteria should be delineated. METHOD: The term CHILD nevus is proposed and the distinctive clinical, histopathological and ultrastructural features of this disorder are described. RESULTS: A comprehensive clinical and genetic comparison shows that the CHILD nevus can be distinguished from all other types of epidermal nevi by characteristic features such as ptychotropism, waxy yellowish scaling, a unique lateralization pattern showing both diffuse and linear involvement and the presence of foamy histiocytes in the papillae ('verruciform xanthoma'). Contrasting with all other epithelial nevi, the CHILD nevus is an inherited X-linked dominant, male-lethal trait. CONCLUSION: This nevus represents a separate cutaneous entity. Future clinical research will probably show that the underlying gene defect often manifests itself as an isolated skin disorder. Such cases should no longer be confused with ILVEN. Recognition of this particular skin disorder is important for genetic counseling because a woman showing an isolated CHILD nevus has an increased risk of giving birth to a daughter suffering from a complex congenital disorder, the CHILD syndrome.

Fine structural investigation of Malassezia furfur: I. Size and shape of the yeast cells and a consideration of their ploidy.

Small and medium sized yeast cells of cylindrical or oval shape predominated in two Malassezia furfur-standard strains CBS 1878 and CBS 6001 during the exponential growth phase. Large cells of wide-oval shape were rare. They were encountered at the beginning of the stationary phase in strain CBS 6001, which also tended to form filaments easily. In the scales of pityriasis versicolor, there were large wide-oval or spherical cells besides small and medium sized yeast cells and hyphal filaments. Considering the variable size and shape of the yeast cells, differences of their ploidy seemed likely, as described in other fungal species. This aspect is supported by the surface/volume quotient.

Structural alterations in Candida albicans by caffeine and caffeine salts.

Cytological alterations of Candida albicans following exposure to subinhibitory concentrations of caffeine and caffeine salts were examined by light and transmission electron microscopy (TEM). The effect was different from that induced by ketoconazole. Caffeine and especially caffeine salts caused an increase in unusual modes of proliferation with signs of multiple budding in Candida albicans. Structurally, such yeast cells present some resemblance to Paracoccidioides brasiliensis.

The fine structure of Hortaea werneckii.

Hortaea werneckii (strain CBS 107.67) was examined by light and transmission electron microscopy (TEM). Special attention was paid to the wall architecture, the septum with a simple pore apparatus, the annellidic type of collar and the nuclei. Two-celled organisms showed signs of distoseptation; nuclear events appeared to be rather synchronous in both cells. The fine structural results provided evidence of endogenous conidia development.

Pityrosporum ovale/orbiculare in papillomatous nevus cell nevi.

62% of 200 papillomatous nevus cell nevi compared to 45% of 40 seborrheic keratoses showed the presence of Pityrosporum ovale/orbiculare (Malassezia furfur) on their surface, supposedly representing a saprophytic state of the microorganisms in vivo. The papillomatous nevus cell nevi were of the compound or dermal type. Significant inflammation, dysplasia or major changes in color were absent. Electron microscopy revealed the characteristic, sometimes budding fungal cells. A relationship between the presence of Pityrosporum organisms and papillomatosis is discussed.

AIDS prevention and sexual liberalization in Great Britain.

This paper reports the results of a survey conducted among students at a British university in November 1988. The survey included questions on both sexual behaviour and attitudes and responses to the threat of AIDS, and it enabled direct comparisons to be drawn with a similar survey conducted among students in the Federal Republic of Germany. The findings indicate that there persists in Britain a relatively restricted sexual culture despite trends towards liberalization over the last quarter of a century. This has had a significant effect on the responses of young people in Britain to the government's AIDS campaign. While the campaign is premissed on the assumption that most people can express their sexual needs and desires openly and without inhibitions, the survey shows that this is far from the case. Traditional values and attitudes still prevail to a remarkable degree, and these have hindered recent attempts to change sexual behaviour towards safer practices.

Darier's disease involving an epidermoid cyst.

Histological signs of Darier's disease, including 'corps ronds', 'grains', and acantholytic clefts are demonstrated in the wall of an epidermoid cyst in a patient with Darier's disease of the skin. Possible mechanisms in the development of cyst wall changes are discussed.

[Argyria. A clinical, chemical analytic and micromorphologic study]. / Zur Frage der Argyrie. Eine klinische, analytisch-chemische und mikromorphologische Untersuchung.

A 62-year-old male patient developed generalized argyria following the intake of silver-proteinacetyltannate (Targesin; approx. 60 g in 10 years) as treatment for gastric discomfort. On histological and ultrastructural examination of the skin, silver particles were found not only in the usual locations but also in the Schwann cell, the mast cell, and in smooth muscle cells. This corresponded to chemical analysis, proving the presence of this metal in the skin. In the blood, a level of 0.26 +/- 0.04 ppm silver was found. By means of an equation, attempts were made to demonstrate the reaction process involved in the formation of Ag2S as subjected to the photochemical effect of sunlight.

[Erythrodermic sarcoidosis (a clinical, light and electron microscopy study)]. / Zur Frage der erythrodermischen Sarkoidose (Eine klinische, licht- und elektronenmikroskopische Untersuchung).

We report on a 50-year-old patient suffering from erythrodermic sarcoidosis accompanied by visible enlargement of the peripheric lymph nodes. Histologic examination revealed epithelioid granulomas in the skin, in a lymph node, and in a liver biopsy. Ultrastructurally, we found a focal presence of cells with Langerhans' granules sometimes in a spatial relation to lymphoid cells within the corial granulomas.

[Mycotic mycetoma (eumycetoma) caused by Madurella mycetomi]. / Mykotisches Myzetom (Eumyzetom) durch Madurella mycetomi.

Mycotic mycetoma is a chronic, granulomatous and fistulous tropical disease caused by hyphomycetes of different families. A case caused by Madurella mycetomi is presented and the diagnostic and therapeutic possibilities discussed.

Langerhans cells in granulomatous syphilis.

In a case of granulomatous syphilis (transitional state between early and late syphilis), several Langerhans cells (LC) were present in the basal and medial part of the epidermis. Evidence of LC activation was given by the presence of many Langerhans granules, vesicles, a large Golgi apparatus and, sometimes, Golgi complexes. In some LC, signs of degeneration were visible. Langerhans granules surrounded by cytoplasmic material were present in the intercellular space of the epidermis. Apposition of lymphocytes to LC in the dermal space supports the role of LC in immunologic mechanisms. This was further confirmed by signs of phagocytosis in LC. The interaction of LC with intra-epidermal microorganisms (as, for instance, the Treponema pallidum) might be important in the development of the epidermotropic infiltration. This mainly consists of lymphocytes, which sometimes form a pseudolymphoma. A correlation between LC and granuloma formation is suggested.