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Biomedical subjects

M Braun-Falco

Publications and source records attributed to M Braun-Falco.

At least 19 recordsLinked to original sources

[Erythema annulare centrifugum Darier. Successful therapy with topical calcitriol and 311 nm-ultraviolet B narrow band phototherapy].

Erythema annulare centrifugum is an acute dermatosis of unclear etiology, which presents with annular erythematous lesions with marginal scale. Therapeutically, systemic and topical glucocorticosteroids are used primarily. We treated a patient with large lesions in the area of the thighs resistant to a therapy with topical glucocorticosteroids, with topical calcitriol in combination with 311 nm ultraviolet B narrow band phototherapy. After four weeks of treatment the skin lesions had cleared nearly completely without any side effects. The combination topical vitamin D3-analogue calcitriol and 311 nm ultraviolet B narrow band phototherapy was effective and can be regarded as a useful alternative to glucocorticosteroids for erythema annulare centrifugum.

Administration, Topical↗

Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.

Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder caused by mutation in the ALDH3A2 gene that codes for human fatty aldehyde dehydrogenase (FALDH). Sjögren-Larsson syndrome patients lack FALDH, which catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. The impaired FALDH activity leads to congenital ichthyosis, mental retardation and spasticity. The current lack of treatment is an impetus to develop gene therapy strategies by introducing functional FALDH into defective cells. We delivered human FALDH into keratinocytes of SLS patients using recombinant adeno-associated virus-2 vectors. Transduction of SLS keratinocytes resulted in an augmentation of FALDH activity comparable to phenotypically normal heterozygous carriers. Toxicity of long-chain aldehydes for FALDH-deficient cells decreased almost to the level of unaffected keratinocytes. Three-dimensional culture of corrected SLS keratinocytes revealed an ameliorated FALDH expression. These studies demonstrate the restoration of FALDH in human SLS cells supporting the concept of gene therapy as a potential future treatment option for SLS.

Aldehyde Oxidoreductases↗

[Follicular drug reaction from cetuximab: a common side effect in the treatment of metastatic colon carcinoma].

Cetuximab belongs to a newly developed group of anti-cancer drugs, which have an inhibitory effect on the epidermal growth factor receptor (EGF-R). EGF-R plays a major role in the homeostasis of the epidermis and epidermal appendages. In addition, EGF-R is expressed on a variety of carcinomas of different origin and is thought to be partly associated with tumor progression. For this reason, inhibition of EGF-R seems a promising anti-cancer therapy, as shown in a few clinical trials. As a side effect of the therapy, a follicular rash often develops in the seborrheic areas; this cutaneous reaction is associated with longer survival. We present a typical case and discuss the important features of the follicular rash occurring after EGF-R inhibition.

Anaphylaxis↗

[Palmoplantar vesicular lesions in childhood].

BACKGROUND AND OBJECTIVE: Palmoplantar vesicles in children have various underlying causes, requiring different therapies. We evaluated the most common underlying diseases and determined simple criteria for differentiation. PATIENTS/METHODS: Within a two years period all children up to 14 years of age who presented with acral vesicles were included in this study. RESULTS: The most common causes of acral vesicles in a group of 32 patients, were dyshidrotic eczema with (n=11) or without atopic diathesis (n=11) and scabies (n=7). Rarely, the cause of vesicular lesion was tinea (n=2) or infantile acropustulosis (n=1). While dyshidrotic eczema was a disease of late childhood, palmoplantar lesions caused by scabies developed in younger children up to the age of 4 years. Scabies in contrast to infantile acropustulosis tend to present with more generalized lesions, not being restricted to acral location. Dyshidrotic eczema revealed lesions bilaterally and in case of atopy, additional body areas were involved. Unilateral presentation was a clue for tinea. CONCLUSIONS: Acral vesicles in childhood can be diagnostically discriminated by the age of the patient and the distribution of the lesions.

Adolescent↗

Linear spiradenoma with focal malignant transformation.

Malignant spiradenoma is an exceedingly rare adnexal tumour clinically characterized by rapid enlargement of a pre-existing, long-standing benign spiradenoma. Microscopic examination typically reveals a continuum between benign spiradenoma and areas of malignant transformation. Biological behaviour is unpredictable and it should be regarded as a potentially lethal neoplasm. Treatment recommendations require radical surgical excision. The reported case of a 23-year-old female illustrates the malignant transformation of a 1.5 cm nodule within a large linear spiradenoma almost covering the frontal aspect of the lower leg. In reviewing the literature, malignant transformation seems to occur slightly more often in multiple than in solitary spiradenomas. It is unclear whether excision restricted to the malignant area is an advisable treatment option in comparison to total excision of all spiradenoma nodules. In the presented case, the transformed area was excised. The patient is free of recurrence after 2 years.

Adenoma, Sweat Gland↗

Histopathological characteristics of small diameter melanocytic naevi.

BACKGROUND/AIMS: The clinical definition of an atypical naevus ("dysplastic naevus" or "naevus with architectural disorder and cytological atypia of melanocytes") stresses size larger than 5 mm in diameter as a major diagnostic criterion. Because malignant melanomas and their precursors may arise in smaller lesions, a histological study of melanocytic lesions smaller than 4 mm in diameter was conducted to evaluate their histological appearance. METHODS: Two hundred and sixty one naevi smaller than 4 mm in diameter were collected and characterised by histological examination into benign naevi without architectural disorder and naevi with architectural disorder and mild, moderate, and severe atypical melanocytes according to criteria used on larger lesions. RESULTS: Small melanocytic naevi covered the same complex histological spectrum from benign naevi to severely atypical naevi when compared with larger lesions. A high proportion of small naevi (72%) exhibited features diagnostic for naevi with architectural disorder and cytological atypia. CONCLUSION: There is a discrepancy between histological and clinically defined atypical naevi. The same generally accepted criteria for the histological diagnosis of atypical naevi should be used for small melanocytic naevi in addition to large ones. Thus, small naevi exhibiting atypical features on histological examination should be categorised as atypical naevi, regardless of their small diameter.

Adolescent↗

[Gene therapy concepts for promoting wound healing].

Growth factors are important players in orchestrating all stages of wound healing. They are mitogen, chemotactic, they regulate cell-cell interactions and influence synthesis and composition of extra-cellular matrix components. The use of growth factors to stimulate wound healing is a promising new therapeutic approach to repair chronic tissue defects. The delivery of genetic material offers an attractive treatment modality to produce an appropriate amount of growth factor proteins within the wound site. This review discusses several methods of growth factor gene transfer into wound tissue and presents recent experimental results of gene therapy approaches in stimulating wound repair.

Animals↗

[Scrotal leiomyoma].

Genital leiomyomas of the scrotal skin are extremely rare benign tumors, originating from the tunica dartos of the scrotum. We describe a 55-year-old caucasian male with a 3-year history of a slowly growing asymptomatic scrotal knot which was first clinically regarded as a cyst and finally diagnosed histopathologically as leiomyoma. This typical case demonstrates that leiomyomas should be considered in the differential diagnosis of scrotal tumors.

Diagnosis, Differential↗

[Cylindrospiradenomas in Brooke-Spiegler syndrome].

Brooke-Spiegler syndrome is a rare autosomal-dominant inherited disease, characterized by the development of multiple cylindromas and trichoepitheliomas. We report a case in which tumors were found on the head showing histological features of both cylindromas and spiradenomas. These changes were in continuity within the same lesions. Since cylindromas are thought to be apocrine in nature, whereas spiradenomas are eccrine, a contiguous growth within the same neoplasm indicates a conflict concerning their histogenesis. The available histological, ultrastructural and immunohistochemical studies have not produced any criteria to allow an unequivocal classification, suggesting instead that both tumors arise from similarly differentiated cells, perhaps from pluripotent epithelial cells. In our opinion, it seems impractical to strictly classify cylindromas and spiradenomas into tumors of apocrine or eccrine differentiation. Moreover, at least for those cases of Brooke-Spiegler syndrome, where both tumors are found in immediate vicinity to each other, we propose the term cylindrospiradenoma.

Adenoma↗

Recombinant adeno-associated virus (rAAV) vector-mediated cotransduction of CD70 and CD80 into human malignant melanoma cells results in an additive T-cell response.

Genetic modification of malignant melanoma cells by transduction of cDNA encoding costimulatory molecules, cytokines or tumor-associated antigens has been shown to induce antitumor immunity. An important step in this scenario is the activation of T cells. CD80 is a pivotal costimulatory molecule for T-cell activation. Another molecule with costimulatory activity is CD70. The purpose of this study was to evaluate the capacity of a combined expression of CD70 and CD80 on melanoma cells to amplify an antitumor response in vitro. Therefore, the CD70- and CD80-negative human malignant melanoma cell line Colo679 was transduced with adeno-associated virus vectors carrying either CD70 or CD80. The resulting cell strains Colo679-CD70, -CD80 and -CD70/CD80 showed strong expression of CD70, CD80 or both, respectively. As expected, the T-cell response to CD70-positive malignant melanoma cells was substantially weaker than to the CD80-positive cells. However, the combined expression of CD70 and CD80 resulted in a T-cell response clearly superior to the single expression of CD80 or CD70 alone. These results provide evidence that CD70 plays an additional role in T-cell activation and should be considered as a molecule of interest in the design of immune gene therapy strategies for the treatment of malignant melanoma.

Antigens, CD↗