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We describe a mother and son with facial nerve palsy, multiple truncal café-au-lait spots, and mild developmental delay. The mother also had hyposmia, increased tendency to caries, and growth retardation, and the son hypotrichosis, hearing loss, and microtia. This apparently autosomal dominant disorder was described first by Johnson et al. [1983: Am J Med Genet 15:497-506] and Johnston et al. [1987: Am J Med Genet 26:925-927].
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We applied a strategy that utilized a combination of systematic gene expression analysis with various tissues and immunological detection with sera from melanoma patients to identify melanoma antigens expressed preferentially in melanoma and melanocytes. We selected 101 genes by comparing cDNA profiles obtained by GeneChip analysis of a highly pigmented melanoma cell line, SKmel23, primary cultured melanocytes, HUVECs cultured endothelial cells, keratinocytes, liver and stomach. After the additional selection with criterion of high registered frequency of each cDNA in melanocyte-related cDNA libraries in the NCBI database, 15 genes including 12 known melanocyte specific genes were identified. One of the remaining 3 genes, FCRL/FREB, encoding a member of the Fc receptor family that was previously reported to express in germinal center B cells, was found to express preferentially in melanocytes and melanoma tissues by RT-PCR and Northern blot analysis. The FCRL/FREB protein was detected in the cytoplasm of melanoma cells by staining with the murine polyclonal antibody and by transfection with GFP-fused FCRL/FREB cDNA. The bacterial recombinant protein was recognized by serum IgG antibody obtained from some patients with melanoma. These results suggest that FCRL/FREB may function in melanocytes and melanoma and may be useful for development of diagnostic methods for various pigment disorders and immunotherapy of melanoma.
Melanoma growth stimulatory activity (MGSA) is a mitogenic polypeptide secreted by Hs294T human melanoma cells. Comparison of the N-terminal sequences of the 13 and 16 kd MGSA species with the cDNA sequence revealed that the mature form of human MGSA is maximally 73 amino acids long. Expression of the cDNA in mammalian cells results in the secretion of this peptide with mitogenic activity. MGSA is structurally related to the platelet-derived beta-thromboglobulin and to several other polypeptides. These factors may constitute a family of growth factors. MGSA mRNA was detected in a variety of cell types. The level of MGSA mRNA in melanoma cells is strongly elevated by treatment with MGSA. MGSA is the gene product of a recently detected gene gro. The gene was mapped to chromosome 4 (region q13----q21). This same region also contains genes for two of the structurally related factors, for c-kit, a receptor for an as yet unidentified ligand, and for 'piebald trait', an inherited skin pigmentation disorder.
BACKGROUND AND OBJECTIVE: The physical mechanisms for laser-tattoo interactions and the tattoo particle breakup process are not well understood. This study investigates whether the mechanism of the breakup process can be identified via computer simulations and proposes a treatment strategy that can potentially minimize the collateral damage to the surrounding tissues. Note that the "removal" of tattoo particles is defined here as breakup of particles into smaller ones with sizes approaching or smaller than the visible wavelength of light so that they become less visible. STUDY DESIGN/MATERIALS AND METHODS: The radiation-hydrodynamics code LATIS is used for the modeling. We first identify the magnitude of the tensile stress generated inside graphite tattoo particles as functions of laser pulse length and particle size. We then calculate the relationship between the surface laser fluence (defined as the time integrated energy flux) and the tensile strength of the tattoo particle at a given depth. RESULTS: If the laser pulse length is sufficiently short, strong acoustic waves with tensile strengths exceeding the fracture thresholds for graphite are generated. The strength of the wave decreases with particle size and increases as the laser pulse length decreases. Simulation results are in general agreement with clinical studies. Although temperatures of the tattoo particles never reach the melting point, a cavitation bubble around the particle can be formed. The steam generated can get into the cracked particles and induce steam-carbon reactions. Laser energy density decreases rapidly with the skin depth. Therefore, the minimum surface laser fluence, for a given pulse length, required for breaking up tattoo particles at a given skin depth, increases with particle depth. CONCLUSIONS: Computer simulations confirm that the breakup of tattoo particles is photoacoustic. For the same amount of laser energy, a shorter pulse is more efficient. The optimal pulse length is approximately 10-100 picosecond to minimize the laser fluence and the collateral damage. It is more difficult to break up the smallest tattoo particles that have diameters smaller than 10 nm; however, smaller particles are less important because they are less visible. Tissue surrounding the tattoo particles can be damaged by cavitation bubbles. These bubbles could be the cause of the empty vacuoles in the ash-white lesions throughout the dermis seen after treatment. Steam-carbon reactions can be induced. Particles then become grossly transparent because of this reaction. Different laser intensity should be used for pigments at different depths in order to minimize the collateral damage to the dermis.
Hematoporphyrin derivative (HpD) is a photoactive, oncophilic substance that produces cutaneous photosensitivity as its only significant side effect. Twenty-three patients who received systemic HpD and the usual light-avoidance precautions were studied prospectively to determine the incidence and severity of cutaneous phototoxicity (CP). Seventeen of the 23 patients (74%) reported CP, including three patients (18%) who experienced blister formation. Symptoms of CP occurred for a mean duration of 6 weeks (range 5-23 weeks). Lack of compliance with restrictive photoprotective measures was felt to be a major contributing factor. Other HpD-related complications included skin hyperpigmentation, ocular discomfort, pruritus, pain at injection site, and urticaria. CP and the restrictive measures to avoid it represent major disadvantages of the clinical use of HpD.
Autopsy examination of young adult mice revealed a characteristic pigmentation of the anterior splenic pole occurring in a high proportion (8-34 per cent) of three mouse strains and two sublines. Histological studies identified the pigment as lipofuscin and electron microscopy provided supporting evidence. Preliminary results are consistent with the hypothesis that lipofuscin may represent non metabolisable debris from cellular breakdown associated with lysosomal activity.
Grizzled (gr) is a recessive mouse mutation resulting in a gray coat color and reduced perinatal viability. Mocha (mh) is one of several recessive mouse mutants characterized by platelet storage pool disorder, pigment abnormalities, reduced fertility, kidney function deficiencies, and, in some mutants, inner ear and natural killer cell deficiencies. Murine platelet storage pool deficient mutants may be models for Chediak-Higashi and Hermansky-Pudlak syndromes in humans. The genes for gr and mh are very closely linked to each other (0 +/- 1.2 cM). However, their relative position with respect to molecular markers was previously unknown. Thus, genetic mapping of the gr locus will also yield information about the mh location. To map these two genes genetically, we have performed an intersubspecific backcross of grizzled mice with Mus musculus castaneus. In 539 progeny tested, we found no recombination between the gr gene, the gene for anti-Muellerian hormone (Amh), and the microsatellite markers D10Mit7, D10Mit21, and D10Mit23. One recombination event for each of the flanking markers Basigin (Bsg) and D10Mit22 was identified. These closely linked markers should provide entry points for positional cloning of the gr and mh genes. The region linked to grizzled is homologous to a gene-rich region on human Chromosome 19p13.3.
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Lemon oil contains furocoumarin derivatives and is known to cause phototoxicity. In this study, lemon oil was fractionated, and its phototoxic activity was measured by means of a biological assay. The substances producing phototoxicity were identified by high-performance liquid chromatography as being oxypeucedanin and bergapten. The phototoxic potency of oxypeucedanin was only one-quarter of that of bergapten. However, the amounts of these two phototoxic compounds present in lemon oils produced in different regions of the world varied by a factor of more than 20 (bergapten, 4-87 ppm; oxypeucedanin, 26-728 ppm), and their ratio was not constant. The two compounds accounted for essentially all of the phototoxic activity of all lemon-oil samples. Among various other citrus-essential oils investigated, lime oil and bitter-orange oil also contained large amounts of oxypeucedanin. Oxypeucedanin was found to elicit photopigmentation on colored-guinea-pig skin without preceding visible erythema.
The pathogenetic role of liver damage in photodermatoses induced by oral contraceptives was investigated. From among 121 cases with photodermatosis, it was in 4 cases of polymorphic light eruption-like dermatosis and in 2 cases of porphyria cutanea tarda that a longterm use of antibaby pills preceded the development of skin disease. Physical and biochemical studies of the liver of the patients suggested that the hepatotoxicity of the estrogen component of oral contraceptives can play a role not only in the pathomechanism of porphyric cases, but also in that of cases occurring with the clinical picture of polymorphic light eruption.
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Human epidermis can be reconstructed in vitro and is currently used in autografts for the treatment of severe, extensive burns and pigmentation disorders. However, there are neither international standards nor a common nomenclature for engineered tissues. The paper discusses the results of a preliminary study on human cultured epidermis to assess its mechanical tensile strength, and to eventually establish mechanical evaluation criteria that will enable test and comparison of the behaviour of different engineered tissue products. To perform uniaxial tension tests a traditional testing machine was adapted, and dedicated sample holding frame and grips designed.
The thyroid gland of homozygous Gunn rats is moderately enlarged and displays a brownish-black discoloration. Light microscopic examination discloses that the follicular cells are filled with brown granules, which are shown, under the electron microscope, to be modified colloid droplets. Most of them possess a strong acid phosphatase and a mild peroxidase activity and contain a melanin-like pigment, according to histochemical analysis. In comparison with normal Wistar rats, Gunn rats possess significantly higher plasma thyroxine and lower triiodothyronine as well as an increased plasma TSH level. The soluble protein content of the thyroid is reduced in the Gunn rat, as is the total intrathyroid iodine content. The hyperthyroxinaemia of homozygous Gunn rats is due to a hereditary deficiency in hepatic glucuronyl transferase activity. The excess circulating thyroxine is of little functional importance because it is firmly bound to plasma proteins. But Gunn rats have a slight hypothyroid goitre for reasons not yet elucidated. The functional as well as morphological data at present available suggest a modified thyroid iodine metabolism and an altered composition of the thyroglobulin which may induce abnormalities in colloid proteolysis. The observed pigment may result from peroxidation of tyrosine. These alterations are probably independent of the sole enzymatic deficiency so far encountered in these animals and may probably be ascribed to a primary enzymatic defect in the thyroid gland itself.
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Since the introduction of laser therapy was developed continuously. New indications are possible in the aesthetic surgery. The laser is used for the treatment of naevi, hemangiomas, wide port-wine-stains, teleangiectasias, tattoos, epilations and skin resurfacing. To fulfill the expectations of the patients and the remands of a plastic aesthetic surgeon it is important to find the correct indication and choose the right laser. Vascular and pigmental disorders can be successfully treated with the flash lamp pumped pulsed dye laser. Laser containing different wave lengths are available. For the treatment of the aged skin the Ultrapuls-CO2-Laser offers advantages in comparison with the Erbium-YAG-Laser. However these lasers can not replace a facelift or blepharoplasty.