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  • Nutlin3 There are a large number of reticulated pigmentation

    2018-11-15

    There are a large number of reticulated pigmentations that need to be distinguished, including dyskeratosis congenita (DKC), X-linked reticulate pigmentary disorder (XLRPD), Naegeli-Franceschetti-Jadassohn syndrome (NFJS), dermatopathia pigmentosa reticularis (DPR), DDD, reticulate acropigmentation of Kitamura (RAPK), and dyschromatosis hereditaria universalis (DHU). DKC is characterized by nail atrophy, leukoplakia, and bone marrow failure. NFJS is featured as diffuse palmoplantar keratoderma with nail and teeth changes. DPR can be distinguished by the presence of palmoplantar keratoderma with punctiform accentuation, nail and eye changes. RAPK presents clinically with reticulate and freckle-like hyperpigmentation beginning on the dorsal hands in childhood, and microscopically shows increasing numbers of melanocytes. DHU is characterized by variegated hyper–hypo pigmentation starting at a very young age, while XLRPD shows amyloid deposits in the dermis of lesional skin. The case of DDD in this study had no nail abnormalities and no deposits of amyloid, which excluded the diagnosis of DKC, NFJS and DPR, and the diagnosis of XLRPD, respectively. Disease onset helped exclude DHU. Disease onset and the fact there was no increase in DOPA-reactive melanocytes excluded RAPK, although several reports showed that the features of RAPK and DDD overlap. DKC is caused by a number of genes, all of which encode products involved in telomere maintenance. NFJS and DPR may share similar haploinsufficiency of keratin 14. RAPK is usually sporadic. While no genetic studies have been performed yet, there appear to be some phenotypic similarities between DDD and RAPK. DHU may be caused by mutations of double-stranded RNA-specific adenosine deaminase gene. DDD, as mentioned earlier, might result from mutations in keratin 5/14 or in chromosome 17. Thus, NFJS, DPR, and DDD might share some mutational loci. The common features of pigmentary abnormalities and the shared genetic abnormalities of keratin 5/14 in NFJS, DPR, and DDD suggest that keratin 5/14 in basal keratinocytes plays an important role in melanosome transfer. Planko et al found an association between keratin 14 with abnormal epidermal growth and impaired melanin transfer. Certain K5/14 mutations also are known to result in the development of epidermolysis bullosa simplex (EBS), a mechanobullous disorder without pigmentary abnormalities. However, DDD usually occurs without blisters, suggesting a site-specific mutation genetic profile in keratin 5/14 might result in either cytoskeletal changes or melanin transfers. Studying 53 patients with EBS, Arin et al identified one patient that had Nutlin3 heterozygosity for KRT5 mutations causing both DDD and EBS. One question that needs resolution is why reticulate pigmentations, but not general hyperpigmentations, appear in the context of similar gene defects. The possible explanations may include genetic mosaicism and special distribution of melanin transfer.
    Introduction Lightning is a natural event and is particularly common in spring and autumn. Deaths have been reported in 20–30% of cases of lightning strikes. Moreover, serious complications may develop among the survivors of lightning strikes. In addition to serious systemic effects, lightning strikes may also cause special figures on the skin resembling ferns, known as Lichtenberg figures. These figures are considered to be pathognomonic for lightning strikes. In this report, two cases of lightning strikes with Lichtenberg figures in which the victims were found unconscious are presented.
    Case reports
    Discussion Energy levels of lightning have been calculated to be as high as 30 million volts/50,000 amps, and lightning may cause exposure to temperatures as high as 3000°C. In the United States, deaths of 374 people as a result of lightning strikes were reported between 1995 and 2000. By contrast, there are insufficient data about deaths due to lightning strikes in Turkey. The victims are mostly people doing various jobs outdoors during the summer. In our cases, the patients said that they had taken shelter under trees to escape from the rain. Lightning strikes cause disorders in many systems, but the most important effects occur in the cardiovascular and central nervous systems. The most common cause of death in lightning strike victims is cardiopulmonary arrest. Heart tissue damage and even wall motion abnormalities may occur due to the electrical current, and cardiac biomarker levels may be increased, as was the situation with our female patient. In addition, many neurologic problems may be seen in lightning strike cases. Generally, the victim loses consciousness immediately. In both of our patients, loss of consciousness occurred and the victims did not remember what had happened. In LS when struck by lightning, the electrical current usually passes outside the body and causes characteristic superficial linear burns resembling a tree, known as Lichtenberg figures. Deep internal burns are relatively rare and are characterized by rhabdomyolysis and myoglobinuria. Lichtenberg figures were described in 1777 by Georg Christoph Lichtenberg. The exact mechanism of Lichtenberg figure formation remains unclear. It is estimated that it may involve dielectric degradation of the skin and red blood cell leakage to superficial skin layers from capillaries caused by intensive electron flow. Lichtenberg figures appear approximately 1 hour after exposure to lightning and decreases over time, tending to disappear within 24–48 hours. Both of our patients were admitted early and both had Lichtenberg figures on admission. Lichtenberg figures were seen very clearly on our first patient, even on the 5th day, but the Lichtenberg figures on our second patient disappeared within 72 hours.