RT Book, Section
A1 Dyer, Jonathan A.
A2 Goldsmith, Lowell A.
A2 Katz, Stephen I.
A2 Gilchrest, Barbara A.
A2 Paller, Amy S.
A2 Leffell, David J.
A2 Wolff, Klaus
SR Print(0)
ID 56068234
T1 Chapter 137. Lipoid Proteinosis and Heritable Disorders of Connective Tissue
T2 Fitzpatrick's Dermatology in General Medicine, 8e
YR 2012
FD 2012
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-166904-7
LK accessmedicine.mhmedical.com/content.aspx?aid=56068234
RD 2024/04/24
AB Inherited  connective  tissue  disorders  are  clinically  and  genetically  diverse  conditions  affecting  the  skin,  joints,  and  a  variety  of  extracutaneous  tissues,  including  the  cardiovascular  (CV)  system.  The  nature  and  severity  of  the  skin  phenotype  is  dependent  on  the  type  of  mutation  as  well  as  the  role  of  the  affected  protein  on  dermal  structure  and  function  (see  Chapter  63).  The  diagnosis  of  many  inherited  connective  tissue  disorders  is  clinical,  although  CLIA-approved  genetic  testing  is  increasingly  available.  A  listing  of  research  laboratories  that  may  offer  testing  can  be  found  at  http://www.genetests.org.