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What is HITS (WORLDWIDE)


Support Group

Helpline Details

Research 2013

Membership

Links

Events

Newsletters

Medical Information

 

 

 

Supporting families affected by the extremely rare neurocutaneous disorder

 

Hypomelanosis
of Ito

Also known as Incontinentia Pigmenti Achromians,
Ito's Syndrome

or HMI (Pigmentary Mosaicism)
 
 
 
 
What is HI?

The definition of HI is: A neurocutaneous syndrome of streaky, patchy,
whorl-like, or linear macular hypopigmentation of the skin, often
associated with seizures, developmental and intellectual retardation and
other anomalies.

The symptoms of HI include:
Asymmetry of the body, patchy pigmentation which can occur on any part of the body, but not normally the palms, scalp or soles of the feet. Gross motor and psychomotor retardation, epilepsy, scoliosis, dental and bone anomalies, unusual ophthalmic features and kidney problems, amongst others.

Diagnosis of HI
HI is a manifestation of an etiologically heterogeneous group of disorders, some of which are associated with genetically distinct cell lines.

This is a group of disorders with the common feature of increased and/or
decreased pigmentation in a characteristic formation with swirling patterns
around the trunk and linear patterns down the legs and arms. Dermatologists call this pattern Blaschko's Lines. It is now known that this pattern occurs when there are two populations of cells in the skin which vary
because of a chromosome problem in one set of cells or a gene change. When skin cells are cultured an abnormal chromosome pattern is found in one population of cells in about one third of affected individuals. The error
seems to occur after a child is conceived. The range of effects varies
widely from almost no problems (other than the skin patterning) to major
developmental problems. In those with more severe effects, seizures are
common. Affected individuals may have asymmetry of growth on either side of the body.

Inheritance patterns
This is not considered an inherited disorder since the error occurs after conception in one population of cells. Reports in older literature of familial cases are unconvincing. Pigmentary mosaicism should be differentiated from the X-linked condition of Incontinentia Pigmenti where the areas of increased pigment are preceded by blistering skin lesions.

Pre-natal diagnosis
This condition is not considered recurrent. Management in future pregnancies should be routine, although detailed scanning may provide added reassurance.

PLEASE NOTE HYPOMELANOSIS OF ITO IS NOT THE SAME SYNDROME AS INCONTINENTIA PIGMENTI (IP).

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What is HITS (WORLDWIDE)
WHAT IS HITS (WORLDWIDE) |
HITS (WORLDWIDE) is a family support network which was specifically set up by families to support other families with this syndrome because no other
support group existed anywhere else in the world.

HITS (WORLDWIDE) aims to support families by letter, e-mail, telephone, Yahoo Group, Facebook Group, an annual newsletter and by bringing families together at annual events to reduce the sense of isolation often felt.

Aim and Objectives
The Family Support Network's aim is:
To enrich the lives of families and children affected by Hypomelanosis of Ito by facilitating and encouraging communication and linking families together, and by being a focal point offering verbal and written support:

  • To put families who have a common situation or difficulty in touch
    with each other to enable them to gain mutual support and friendship.
  • To reduce the sense of isolation families and children with
    disabilities or special needs often feel.
  • To liase with the medical profession to communicate the group's
    existence and to share medical information available to us.
  • To produce an annual newsletter
  • To organise an Annual or Bi-Annual Family Event.
  • To promote the importance of the group and the need for communication.

See HI Brochure

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Support Group
HITS (WORLDWIDE) Family Support Network
National Contact and Co-ordinator - Sandra Field
33 Fernworthy Close
Torquay
Devon
TQ2 7JQ
Tel: 01803 401018

Chairperson and London Contact - Terri Grant
Tel: 07940 114943
email - indy5258@hotmail.com

The support group offers:
Support by telephone, email, Yahoo Group and Facebook Group, information on the disorder, links with other similarly affected families and family days

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Helpline Details
The Ito Helpline is unmanned but messages can be left via voicemail

All calls are treated in strictest confidence

Please call +44 020 8352 1824 (if all lines are busy you will hear a
recorded message, please speak clearly leaving your details and someone
will get back to you).

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Research 2013

Many families from around the world are participating in the following research project which is taking place in the USA but open to families worldwide. If you are an HI family and would like to be included in this project – please contact me at indy528@hotmail.com for further details.

“We are a group of researchers in Boston interested in learning more about the genetic causes of rare conditions, like Hypomelanosis of Ito. We believe that by identifying a genetic cause, it may speed up the diagnosis process and give us a better understanding about the underlying biology of disorders. Enrollment is ongoing and participation is free, with no travel to Boston needed.

Participation includes completing some paperwork, having a research phone call appointment, and providing a DNA sample (through either blood or saliva). We try to enroll anyone who is affected and their first degree relatives (parents, siblings and children).

After we receive the DNA samples, the family’s active participation is complete, and our studies are ongoing with no set “end date.” We will be performing various types of genetic analysis on the samples with the goal of better understanding the genetic cause of HI, and multiple doctors and researchers here might access your sample to help us achieve this goal. If a clinically significant result for your family is found, we can report that back to you with the help of your doctor.

HITS (Worldwide) Family Support Network has in conjunction with Genetic Alliance UK produced the following Patient information resource:

Download here

The booklet is also available in other languages here: Genetic Alliance UK: Projects - Facilitating Networks

www.geneticalliance.org.uk

 
Membership
MEMBERSHIP
Membership is open to all families in the UK and throughout the world
affected by HI.

Please contact Sandra Field at the above address or Terri Grant at

Indy5258@hotmail.com

for further information relating to HI or HITS (WORLDWIDE).


We currently support families in UK and Ireland, Argentina, Australia, Belgium, Brazil, Canada, Chile, Cyprus, Denmark, Ecuador, France, Germany, Holland, India, Italy, Japan, Malta, Mexico, New Zealand, Singapore, South Africa, Spain, Sweden, Turkey, United Arab Emirates (Dubai) and the USA (including Hawaii)

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Links



http://www.cafamily.org.uk

http://groups.yahoo.com/group/hitsuk2001uk

http://www.youth-plus.org.uk

http:/www./ukcharityauction.org

http:/www.skincarecampaign.org

http:/www.ectodermaldysplasia.org

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Events

Since our first events in 2001 we have held a family day every year with families attending from as far afield as Sweden, Ireland, France and Dubai. Family Days are held in the UK but families from anywhere in the world are invited to attend if possible. Lunch and entertainment is provided and the day provides the opportunity for an open discussion forum for parents.

UK travel costs only – (petrol or standard rail costs) will be reimbursed.

Our 2013 Family Day will take place on Saturday July 6th in Lancashire (nearest station Accrington)

For more information about our 2013 family day and any future events – please email indy5258@hotmail.com

Our first Family Day took place on July 15th 2001 in London with speakers on managing epilepsy and managing scoliosis with an open discussion forum for parents.

Our first committee meeting with some of our medical advisers took place in London on Saturday October 6th 2001

For details of our Committee Meetings and Annual General Meetings (held in London) please contact indy5258@hotmail.com

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e-Newsletters

To receive copies of our e-newsletters please e-mail Terri Grant at indy5258@hotmail.com

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Medical Advisers to the Board
Previous Medical Advisers to the Board include:

Dr Celia Moss, DM, FRCP, MRCPCH (Consultant Paediatric Dermatologist),
Birmingham Children's Hospital
Dr Saleem Taibjee, Birmingham Children's Hospital

Professor Dian Donnai, (Consultant Clinical Geneticist), Manchester
Hospital
Dr Richard Alan Lewis, MD, MS, (Professor, Departments of Ophthalmology,
Medicine, Pediatrics and Molecular and Human Genetics)
Baylor College of Medicine, Houston, Texas
Dr Jill Adams, Torbay Hospital
Marian Hankey, Physiotherapist
Dr Philip Beales, Molecular and Medical Genetics, Guy's Hospital, London
Dr Richard Appleton, RLCH NHS Trust - Alder Hey.

(See Ito's information for parents)

Other Associates to the Board
Professor Adrian Woolf MA MD FRCPCH, Head of the Nephro-Urology Unit,- Great Ormond Street Hospital, London
Dr. Martino Ruggieri - Senior Lecturer of Paediatric Neurology, Catania, Sicily
Dr. Jean-Philippe Lacour, Service de Dermatologie, Hopital Archet Nice, France

Previous Sponsors Include:
Ernst & Young
National Westminster Bank
The Lloyd's TSB Foundation
The Roald Dahl Foundation
The Cheeki-Monki Company
Daimler Chrysler UK Limited
River Metals Recycling LLC - USA

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