Blog
About

134
views
0
recommends
+1 Recommend
0 collections
    12
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.

          Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms. In most cases, hypertrichosis is not an isolated symptom but is associated with other clinical signs including intellective delay, epilepsy or complex body malformations.

          A review of congenital generalized hypertrichosis is reported with particular attention given to the disorders where excessive diffuse body hair is a sign indicating the presence of complex malformation syndromes. The clinical course of a patient, previously described, with a 20-year follow-up is reported.

          Related collections

          Most cited references 60

          • Record: found
          • Abstract: found
          • Article: not found

          Controls of hair follicle cycling.

           K Stenn,  Ralf Paus (2000)
          Nearly 50 years ago, Chase published a review of hair cycling in which he detailed hair growth in the mouse and integrated hair biology with the biology of his day. In this review we have used Chase as our model and tried to put the adult hair follicle growth cycle in perspective. We have tried to sketch the adult hair follicle cycle, as we know it today and what needs to be known. Above all, we hope that this work will serve as an introduction to basic biologists who are looking for a defined biological system that illustrates many of the challenges of modern biology: cell differentiation, epithelial-mesenchymal interactions, stem cell biology, pattern formation, apoptosis, cell and organ growth cycles, and pigmentation. The most important theme in studying the cycling hair follicle is that the follicle is a regenerating system. By traversing the phases of the cycle (growth, regression, resting, shedding, then growth again), the follicle demonstrates the unusual ability to completely regenerate itself. The basis for this regeneration rests in the unique follicular epithelial and mesenchymal components and their interactions. Recently, some of the molecular signals making up these interactions have been defined. They involve gene families also found in other regenerating systems such as fibroblast growth factor, transforming growth factor-beta, Wnt pathway, Sonic hedgehog, neurotrophins, and homeobox. For the immediate future, our challenge is to define the molecular basis for hair follicle growth control, to regenerate a mature hair follicle in vitro from defined populations, and to offer real solutions to our patients' problems.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Cantú syndrome is caused by mutations in ABCC9.

            Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in ABCC9 in all probands. With the inclusion of the remaining cohort of ten individuals with Cantú syndrome, a total of eleven mutations in ABCC9 were found. The de novo occurrence in all six simplex cases in our cohort substantiates the presence of a dominant disease mechanism. All mutations were missense, and several mutations affect Arg1154. This mutation hot spot lies within the second type 1 transmembrane region of this ATP-binding cassette transporter protein, which may suggest an activating mutation. ABCC9 encodes the sulfonylurea receptor (SUR) that forms ATP-sensitive potassium channels (K(ATP) channels) originally shown in cardiac, skeletal, and smooth muscle. Previously, loss-of-function mutations in this gene have been associated with idiopathic dilated cardiomyopathy type 10 (CMD10). These findings identify the genetic basis of Cantú syndrome and suggest that this is a new member of the potassium channelopathies. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Hypertrichosis.

              Hypertrichosis is hair growth that is abnormal for the age, sex, or race of an individual, or for a particular area of the body. Recognized forms of hypertrichosis are reviewed. Hirsutism, which is male-pattern hair growth in a female or child, is not included in this review. Hypertrichosis is categorized as congenital or acquired, and regional or generalized. Methods of managing hypertrichosis are also briefly reviewed
                Bookmark

                Author and article information

                Contributors
                095 7435254 , ppavone@unict.it
                Journal
                Ital J Pediatr
                Ital J Pediatr
                Italian Journal of Pediatrics
                BioMed Central (London )
                1824-7288
                5 August 2015
                5 August 2015
                2015
                : 41
                Affiliations
                [ ]Unit of Pediatrics and Pediatric Emergency, University Hospital “Policlinico-Vittorio Emanuele”, Catania, Italy
                [ ]Section of Pediatrics and Child Neuropsychiatry. Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
                [ ]Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy
                [ ]Institute of Medical Genetics, Catholic University, University Hospital A. Gemelli, Rome, Italy
                [ ]Department of Sciences for Health Promotion and Mother and Child Care, Pediatric Unit, University of Palermo, Palermo, Italy
                Article
                161
                10.1186/s13052-015-0161-3
                4526284
                26242548
                © Pavone et al. 2015

                Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                Categories
                Review
                Custom metadata
                © The Author(s) 2015

                Pediatrics

                Comments

                Comment on this article