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      Phacomatosis Pigmentokeratotica without Extracutaneous Abnormalities: A Case Study Involving a Preterm Baby

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          Abstract

          Phacomatosis pigmentokeratotica (PPK) is a rare syndrome defined by the association of an organoid nevus occasionally with sebaceous differentiation, a speckled lentiginous nevus, and other extracutaneous anomalies. A preterm male infant of only 830 g at 27 week gestational age had an organoid nevus showing sebaceous differentiation. Also, he had multiple speckled-lentiginous nevus. Correlating the observed clinical presentation with the histopathological findings, the diagnosis of PPK was established. There have been less than 10 cases of PPK without extracutaneous manifestation. We present an uncommon case of a preterm patient with PPK who had no extracutaneous abnormalities.

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          Mosaicism in human skin. Understanding the patterns and mechanisms.

          R Happle (1993)
          The skin is especially suitable for the study of mosaicism. In this review, the various genetic mechanisms leading to mosaicism and the resulting cutaneous patterns are considered. Mosaicism may produce different cutaneous patterns such as the lines of Blaschko, the checkerboard pattern, the phylloid pattern, and a patchy pattern without midline separation. A unique lateralization pattern is observed in the CHILD syndrome. Two major genetic categories are functional mosaics resulting from X inactivation and genomic mosaics caused by autosomal mutations. Functional mosaicism may be caused by either male-lethal or nonlethal X-linked mutations. Similarly, autosomal mutations resulting in genomic mosaicism may be either lethal or nonlethal. Many mosaics are caused by loss of heterozygosity, and uncommonly this mechanism may give rise to twin spots such as vascular twin nevi. Some cutaneous mosaic phenotypes virtually always occur sporadically, but exceptionally may show a familial aggregation. This paradox may be explained by paradominant inheritance. Heterozygous individuals are, as a rule, unaffected, but they express the birthmark when allelic loss occurs during embryogenesis. The concept of cutaneous mosaicism is important for gene mapping because here we have the opportunity to study two populations of cells differing only with regard to the mutation causing mosaicism. Future research will probably show that a specific genetic anomaly, when present as a mosaic, always produces the same type of cutaneous pattern.
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            The group of epidermal nevus syndromes Part I. Well defined phenotypes.

            The epidermal nevus syndromes represent a group of distinct disorders that can be distinguished by the type of associated epidermal nevus and by the criterion of presence or absence of heritability. Well defined syndromes characterized by organoid epidermal nevi include Schimmelpenning syndrome, phacomatosis pigmentokeratotica, nevus comedonicus syndrome, angora hair nevus syndrome, and Becker nevus syndrome. The molecular basis of these disorders has so far not been identified. By contrast, the group of syndromes characterized by keratinocytic nevi comprises three phenotypes with a known molecular etiology in the form of CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, type 2 segmental Cowden disease, and fibroblast growth factor receptor 3 epidermal nevus syndrome (García-Hafner-Happle syndrome), whereas Proteus syndrome is still of unknown origin. From this overview, it is clear that a specific type of these disorders cannot be classified by the name "epidermal nevus syndrome" nor by the terms "organoid nevus syndrome" or "keratinocytic nevus syndrome." After completing this learning activity, participants should be able to distinguish nine different epidermal nevus syndromes by their characteristic features, understand the practical significance of avoiding terms like "epidermal nevus syndrome" or "keratinocytic nevus syndrome" to define any specific entity within this group of disorders, and differentiate between nonhereditary traits and those bearing a genetic risk because of either Mendelian or non-Mendelian inheritance. Copyright (c) 2010 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.
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              Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome.

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                Author and article information

                Journal
                J Korean Med Sci
                J. Korean Med. Sci
                JKMS
                Journal of Korean Medical Science
                The Korean Academy of Medical Sciences
                1011-8934
                1598-6357
                November 2012
                30 October 2012
                : 27
                : 11
                : 1444-1446
                Affiliations
                Department of Dermatology, Korea University College of Medicine, Seoul, Korea.
                Author notes
                Address for Correspondence: Soo Hong Seo, MD. Department of Dermatology, Korea University College of Medicine, 73 Inchon-ro, Seongbuk-gu, Seoul 136-705, Korea. Tel: +82.2-920-5470, Fax: +82.2-928-7540, drsshong@ 123456hanmail.net
                Article
                10.3346/jkms.2012.27.11.1444
                3492686
                23166433
                abbaf530-c711-4667-aac5-186201a57143
                © 2012 The Korean Academy of Medical Sciences.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 30 April 2012
                : 27 July 2012
                Categories
                Case Report
                Dermatology

                Medicine
                phacomatosis pigmentokeratotica,epidermal nevus syndromes,preterm baby
                Medicine
                phacomatosis pigmentokeratotica, epidermal nevus syndromes, preterm baby

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