The Big Blue Book - 1998 International Family Conference

Disclaimer: This book was created after the 1998 Family Conference.  The articles are important to all of those involved with RTS.  This is online without permission from Dr. Rubinstein and the Cincinnatti Rubinstein-Taybi organization.  They would prefer that you call Dr. Rubinstein at  1-800-344-2462 ext. 4621 and request a copy of the book.  I would encourage everyone, especially those with a child who has RTS to call the above number and request a copy of this book.  I have been reassured by Mark Shannon that this book will be sent to anyone who requests it, regardless of country.
All the information from the book is not online (another reason to call and request the book).  Left out are articles which are copyrighted or are not appropriate for the web site (includes list of attendees).  All articles which are deemed “public domain” are included..
Diane Wardlow

Dermatologic Findings in
Rubinstein-Taybi Syndrome

Anita P. Sheth, M.D.
Director, Pediatric Dermatology
University of Cincinnati Medical Center
Children’s Hospital Medical Center

  • Keloids/hypertrophic scars
  • Hirsutism/Hypertrichosis
  • Hemangiomas
  • Dermatoglyphic abnormalities
  • Supernumerary nipples
  • Simian crease
  • Deep plantar crease between 1st & 2nd toes
  • Ingrown nails/paronychiae
  • Atopic dermatitis
  • Seborrheic dermatitis
  • Keratosis pilaris

Hypertrichosis
Hirsutism

 - An increase in the non-androgen-modulated hair on the body.
-  Increased amount and distribution of hair on the face or body of a woman in a pattern more typical of that seen in men.
- May be generalized but usually more evident on the back and shoulders
- Heavy arched eyebrows and long lashes

RX:  Shaving, waxing, depilatories, electrolysis, and laser

Capillary
Hemangiomas

-  More appropriately termed nevus flammeus
- A type of vascular malformation
-  Localized collection of increased cutaneous vessels
-  Found commonly in the lumbar region, forehead, nape

RX: Pulse dye laser, camouflage

Pilomatrixomas

-  (Califying epitheliomas of Malherbe)
-  Benign epithelial neoplasms with hair cell deviation and differentiation
-  Frequently occurring in the first two decades of life
-  Mostly on the upper part of the body
-  Familial pilomatrixomas with association of myotonic dystromy is well known

RX: None, surgery

Paronychiae

-  Infection of the proximal nailfold

RX:  Antibiotics, antigungals

Proceedings

Rubinstein-Taybi.org Site

Replication:
This information is in the public domain unless otherwise indicated.  Readers are encouraged to copy and share it, but please credit The Proceedings for the 1998 International Family Conference on Rubinstein-Taybi Syndrome.

Funding:
UACCDD receives major support from the Hamilton County Mental Retardation Service Levy.  Additional funding sources include: United Way and Community Chest; Maternal and Child Health Bureau and the Administration on Developmental Disabilities of the Department of Health and Human Services; other county, state, and federal agencies; foundations; and individual contributions.
The 1998 International Family Conference on Rubinstein-Taybi Syndrome is very grateful for the generous support of The Special Friends Foundation
.

This document was added to the Rubinstein-Taybi web site in November 2000.

If any of the information found on this website does not adhere to copyright laws it is unintentional, please contact dwardlow@uswest.net and it will be removed from the site.

http://www.rubinstein-taybi.org