[Persistent erythema and edema of the face associated with rosacea and lymph vessel dysplasia]. / Persistierendes Erythem und Odem des Gesichts bei Rosazea und Lymphgefässdysplasie.

A 24-year-old woman with lymph vessel dysplasia had experienced a progressive edema of her legs since her second year of life and progressive facial edema for the past year. She also had telangiectasias and papules on the background of a diffuse erythema as well as marked seborrhea on her face. Histopathological examination of a representative facial lesion revealed a granulomatous dermatitis with periadnexal distribution mainly consisting of lymphocytes and histiocytes. In addition, there was a moderate fibrosis of the dermis with numerous mast cells. By duplex ultrasound, a diagnosis of a massive edema of the legs without evidence for chronic venous insufficiency was made. The clinical and histopathological findings were consistent with solid persistent erythema and edema of the face associated with rosacea and lymph vessel dysplasia. The chronic course, absence of serological abnormalities and nonspecific histopathological features as well as resistance to therapy are the most important diagnostic criteria of this disease also known as Morbihan's disease.

Fetal and adult hair follicle. An immunohistochemical study of anticytokeratin antibodies in formalin-fixed and paraffin-embedded tissue.

The expression of cytokeratins (CK), involucrin, vimentin, CD34, and alpha-smooth-muscle actin was studied in fetal and adult hair follicles. The first stage of the developing hair follicle is characterized by palisaded, elongated epithelial cells budding from the epidermal basal layer. These cells express CK5/6, CK14, CK17, CK19, and vimentin. During the following weeks of gestation, different structures in the developing hair follicle can be identified and characterized. The matrical cells display only CK19. The keratinocytes of the outer root sheath express CK5/6, CK14, CK17, CK19, and involucrin; those of the inner root sheath, CK4, CK18, and involucrin; those of the isthmus, the same profile as the ORS. In the infundibulum, the basal-layer keratinocytes express CK5/6, CK14, CK17, and CK19, whereas in the suprabasal layers CK1, CK4, CK10, CK14, and CK17 are seen. The adult hair follicle in anagen fails to express CK19 in the matrical cells and isthmus and both CK17 and CK19 in the infundibulum. These profiles of intermediate filaments and other markers appear to be potentially useful in categorizing neoplasms with apparent follicular differentiation.

Trichoblastoma and basal cell carcinoma are neoplasms with follicular differentiation sharing the same profile of cytokeratin intermediate filaments.

Trichoblastoma and nodular basal cell carcinoma are generally held to be distinctive epithelial neoplasms with some overlapping features. We investigated 30 trichoblastomas in which the basaloid cells expressed cytokeratins (CK) CK5/6, CK14, CK17, CK19, and, in a few cells, vimentin. The cells of the periphery of small and large cysts showed the same profile. Cells lining the lumen of small cysts expressed CK14, CK17, and involucrin, and those in larger cysts showed a positivity for CK1, CK4, CK10, CK14, CK17, and involucrin. The remaining tested antibodies (CK7, CK8, CK13, CK18, CK20, alpha-smooth-muscle actin) were negative in all cases. The cells of the stroma expressed vimentin and in 22 cases, the CD34 antigen. Seventeen nodular basal cell carcinomas showed exactly the same staining pattern. Furthermore, there are striking immunohistochemical similarities between the neoplastic basaloid cells of both neoplasms and the cells of the hair germ. Therefore, trichoblastoma and nodular basal cell carcinoma cannot be distinguished by their pattern of cytokeratin expression in paraffin sections. The virtually identical cytokeratin pattern seen in trichoblastoma, basal cell carcinoma, and the developing fetal hair follicle is compelling evidence for common differentiation pathway.

[Torus mandibularis]. / Torus mandibularis.

Solitary or bilateral, symptomless exostoses on the lingual surface of the mandibule are called mandibular torus. It is mainly seen in young males and has a benign clinical course. The etiopathology is not known. Both genetic and environmental factors such as the anatomy of the lower jaw are considered. Syndromes associated with facial exostoses such as Proteus syndrome or Gardner's syndrome should be clinically excluded. A 40-year-old man with exostoses of the jaw is reported. With this case report we would like to draw attention to a disease which has rarely been described in the German dermatological literature.

Molecular diagnosis of deep nodular bacillary angiomatosis and monitoring of therapeutic success.

A 51-year-old human immunodeficiency virus (HIV)-positive male patient (CDC stage 3C) had had a painful nodule on his external ankle joint for 10 months. A biopsy suggested bacillary angiomatosis, but Kaposi's sarcoma could not be excluded. Rods were detectable in lesional skin by a Warthin-Starry stain. A 298 base pair (bp) gene fragment specific for Bartonella species was amplified from lesional skin and direct nucleotide sequence analysis of the amplification product clearly identified Bartonella quintana. Kaposi's sarcoma-associated herpes virus specific DNA was not amplifiable by polymerase chain reaction (PCR) in our patient, suggesting that the lesion represented bacillary angiomatosis alone, despite clinical and histopathological features which suggested the coexistence of bacillary angiomatosis and Kaposi's sarcoma. The lesion regressed after erythromycin was prescribed. However, 4 and 9 weeks after initiation of therapy, PCR still yielded a positive result in material obtained by a swab. After complete healing, following 12 weeks of antibiotic therapy, PCR became consistently negative. The optimal length of antibiotic treatment in HIV-positive patients with bacillary angiomatosis is not yet known and inadequate therapy may be followed by disseminated disease and a fatal outcome. PCR-based monitoring of the success of treatment is valuable for determining the duration of treatment resulting in a cure.

[Generalized Mycobacterium avium-intracellulare infection due to immunosuppressive therapy of paraneoplastic dermatomyositis]. / Generalisierte Mycobacterium avium-intracellulare Infektion infolge immunsuppressiver Therapie einer paraneoplastischen Dermatomyositis.

The ubiquitous Mycobacterium avium-intracellulare (MAI) is the most frequent cause of disseminated atypical mycobacteriosis in AIDS patients. MAI infections may develop in patients with other acquired immune defects, such as connective tissue disorders. In adults, the gastrointestinal and respiratory systems are most frequently affected. We report a patient with dermatomyositis receiving immunosuppressive therapy in whom only the skin and the skeletal system were affected by MAI. Because it presented with polymyositis-like symptoms, the infection was initially not identified and treated. The MAI was cultured from a periarticular joint effusion from the right upper arm and from venous blood, as well as identified histologically in lesional skin. Resistance to antibiotics developed most likely because the patient failed to take oral antibiotics regularly. Because of an acute exacerbation of the tumor-associated dermatomyositis, immunosuppressive therapy was initiated, while the tuberculostatic therapy was continued. Using these therapies both diseases markedly improved. In patients with connective tissue disorders receiving longterm immunosuppressive therapy, especially when changes in symptoms and signs are observed, opportunistic infections such as MAI should be considered and included in the differential diagnosis.

[Lisch nodules. Markers of neurofibromatosis 1 and immunohistochemical references for neuroectodermal differentiation]. / Lisch-Knötchen. Marker der Neurofibromatose I und immunhistochemische Hinweise für eine neuroektodermale Differenzierung.

Iris nodules in neurofibromatosis I have become an important tool in the differential diagnosis of phakomatoses. The clinical appearance and importance of these nodules first recognized by Karl Lisch in Munich in 1937. The diagnosis and differential diagnosis of Lisch nodules are illustrated. The importance of iris nodules in genetic counselling of patients and their relatives is discussed, with emphasis on monosymptomatic cases. Histologically Lisch nodules are formed by aggregations of oval to round cells that form dome-shaped papules on the anterior layer of the iris. Immunohistochemically these cells are characterized by positive staining with antibodies against vimentin and S-100 protein. This proves their ectodermal differentiation. Thus Lisch nodules can be seen as a direct manifestation of neuroectodermal disturbances in neurofibromatosis I.

Leprosy type 1 reaction as the first manifestation of borderline lepromatous leprosy in a young native German.

While leprosy is usually a chronic disease, leprosy reactions may lead to acute problems. These reactions most often occur after initiation of therapy, but can also develop before treatment. Leprosy rarely presents with a reaction. We describe a German patient who presented in this unusual way in order to demonstrate the various tools used to confirm the diagnosis. A young German woman suddenly developed progressive functional loss of the left hand and within a few weeks an increasing number of erythematous macules and nodules appeared. Histological examination of a skin biopsy revealed tuberculoid granulomas, some located around small nerves; acid-fast bacilli were detected microscopically and DNA from Mycobacterium leprae was identified by polymerase chain reaction in the biopsy and a nasal swab; serological tests were positive. The disease was classified as borderline lepromatous leprosy. The acute neuritis followed by skin lesions represented a leprosy type 1 reaction in which the immune system reacts to bacilli previously unrecognized in nerve tissue, both in nerve and skin.

[Dorfman-Chanarin syndrome--a neutral lipid storage disease]. / Dorfman-Chanarin-Syndrom--Eine Neutrallipidspeicherkrankheit.

Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with skin manifestations in form of congenital ichthyotic erythroderma. Demonstration of lipid vacuoles in neutrophils from peripherals blood smears in patients with ichthyotic erythroderma leads to the diagnosis. Other organ systems, such as CNS, liver, muscle, ears and eyes, are frequently involved. Since Dorfman-Chanarin syndrome may present with just skin findings, it should be included in the differential diagnosis of the congenital ichthyoses. Microscopic examination of peripheral blood smears is recommended in all patients with ichthyosis. We summarize the current data on the pathogenesis, diagnosis, differential diagnosis, and therapeutic options in Dorfman-Chanarin syndrome, give an overview of the clinical manifestations of the 23 patients affected with this rare disease.

[Tumor of the follicular infundibulum. Study of determining follicular differentiation]. / Tumor des follikulären Infundibulums. Untersuchung zur Bestimmung der follikulären Differenzierung.

Tumor of the follicular infundibulum is a rare proliferation of cells and its histogenesis or differentiation at the morphological level has been the subject of some controversy. In recent years cytokeratins have been recognized as important markers of epithelial differentiation, and of late new retrieval methods have meant it is possible to detect them in formalin-fixed and paraffin-embedded tissue. Four patients were studied, the ages ranging between the 2nd and 7th decade. The tumors were all located in the head and neck and in one case the lesion developed in a pre-existing sebaceous nevus. The morphological investigation revealed a flat, proliferation of polygonal, pale eosinophilic cells connected to epidermis or follicular infundibulum and with a centrally located nucleus. In addition, a few ductal structures resembling sebaceous ducts were seen and in one case a hair germ papilla and a follicular papilla was noted. Immunohistochemical investigations with antibodies against cytokeratins revealed differentiation comparable to that in the fetal follicular isthmus and, in one case, also differentiation in keeping with the fetal follicular infundibulum.

[Panfolliculoma. Clinical and immunohistochemical findings in 4 cases]. / Das Panfollikulom. Klinische und immunhistochemische Befunde von 4 Fällen.

Panfolliculoma is a rare benign neoplasm showing morphological similarities to the trichogenic trichoblastoma of Headington and the trichoblastoma of Ackerman. Eight patients have been previously reported; we add four additional patients. Their ages ranged from the 2nd to the 6th decade. The neoplasms were primarily situated on the head and the trunk. Clinical examination revealed a skin colored or red, dermal cystic nodule. The histological appearance of the panfolliculoma was characterized by symmetry, sharp circumscription and regular aggregations of cells, which were in parts solid or cystic. Additionally, follicular germs and papillae, matrical, inner and outer rooth sheath differentiation were identified. These varied forms of follicular differentiation were confirmed by the immunohistochemical expression of cytokeratins in different epithelial cells. Panfolliculoma is a benign neoplasm with proven morphological and immunhistochemical follicular differentiation.

Orificial tuberculosis: detection by polymerase chain reaction.

Orificial tuberculosis (OT) is a rare manifestation of cutaneous tuberculosis in immunocompromised individuals. Due to its variable clinical features, the diagnosis may be missed at the onset of the disease. We report a 53-year-old patient who had OT and miliary spread of Mycobacterium tuberculosis to the lungs, liver, bones and skin. The diagnosis was established by polymerase chain reaction (PCR) amplification of a Mycobacterium-specific gene segment, and confirmed by culture. PCR allows the detection of mycobacterial DNA within a few days, whereas culture takes many weeks. PCR may improve the accurate diagnosis of skin tuberculosis and allow early treatment.

Reactive perforating collagenosis--transepidermal elimination of type IV collagen.

Reactive perforating collagenosis (RPC) is a rare skin disorder characterized by reddish papules with a central keratotic plug which appear mainly on the extensor aspects of the limbs. An idiopathic or classical variant has been delineated from an acquired one which occurs in diabetes mellitus and renal failure. Histopathological examination of the lesions shows transepidermal elimination of abnormally staining bundles of collagen. To clarify the origin of this collagenous material we performed an immunohistochemical study including biopsies of two patients with RPC, one classical and one acquired. Staining reactivity to antibodies against type IV collagen was observed, thus providing evidence that the collagen eliminated in RPC may be derived from the basement membrane zone.

Diffuse sebaceous gland hyperplasia. A case report and an immunohistochemical study with cytokeratins.

We report a 43-year-old woman with sebaceous gland hyperplasia that occurred in a diffuse pattern of aggregated papular lesions involving her entire face, neck, and upper chest. Comedones, pustules, and inflammatory papules were absent. The eruption was accompanied by marked seborrhea. Histopathological examination showed enlargement of sebaceous acini, an increased number of immature sebocytes in foci, and a dilated follicular infundibulum. Immunohistochemical investigation showed cytokeratin 14 (CK 14) expression in the keratinocytes of the infundibulum, the isthmus, and sebaceous duct and in the mature and immature sebocytes; CK 17 expression in the keratinocytes of the sebaceous duct; CK 1 expression in the keratinocytes of the infundibulum; and an enhanced expression of the proliferation cell antigen Ki-67 (MiB1) in the immature sebocytes. With CK 18 and CK 19, no staining was observed. Oral therapy with isotretinoin (13-cis-retinoic acid) resulted in remarkable improvement in < or = 3 months. Histopathological and immunohistochemical examination after therapy showed markedly reduced sebaceous glands, a decrease in the staining of MiB1-positive immature sebocytes, and enhanced expression of CK 19 in immature sebocytes and sebaceous duct cells. Diffuse sebaceous gland hyperplasia is a rare variant of seboglandular proliferative disorders that is distinct from the well-known circumscribed type.