affected by the extremely rare neurocutaneous disorder
Also known as Incontinentia Pigmenti Achromians,
or HMI (Pigmentary Mosaicism)
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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
The symptoms of HI include:
Asymmetry of the body, patchy pigmentation which can occur on any
the body, but not normally the palms, scalp or soles of the feet.
motor and psychomotor retardation, epilepsy, scoliosis, dental and
anomalies, unusual ophthalmic features and kidney problems, amongst
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
decreased pigmentation in a characteristic formation with swirling
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
because of a chromosome problem in one set of cells or a gene change.
skin cells are cultured an abnormal chromosome pattern is found
population of cells in about one third of affected individuals.
seems to occur after a child is conceived. The range of effects
widely from almost no problems (other than the skin patterning)
developmental problems. In those with more severe effects, seizures
common. Affected individuals may have asymmetry of growth on either
This is not considered an inherited disorder since the error occurs after conception
in one population of cells. Reports in older literature of familial
are unconvincing. Pigmentary mosaicism should be differentiated
X-linked condition of Incontinentia Pigmenti where the areas of
pigment are preceded by blistering skin lesions.
This condition is not considered recurrent. Management in future pregnancies
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) |
HITS (WORLDWIDE) is a family support network which was specifically set up
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
bringing families together at annual events to reduce the sense of isolation
Aim and Objectives
The Family Support Network's aim is:
To enrich the lives of families and children affected by Hypomelanosis
Ito by facilitating and encouraging communication and linking families
together, and by being a focal point offering verbal and written
- 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
disabilities or special needs often feel.
- To liase with the medical profession to communicate the
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
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|HITS (WORLDWIDE) Family Support
National Contact and Co-ordinator - Sandra Field
33 Fernworthy Close
Tel: 01803 401018
Chairperson and London Contact - Terri Grant
Tel: 07940 114943
email - email@example.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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|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
recorded message, please speak clearly leaving your details and
will get back to you).
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 firstname.lastname@example.org 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:
The booklet is also available in other languages here: Genetic Alliance UK: Projects - Facilitating Networks
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
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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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 email@example.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 firstname.lastname@example.org
To receive copies of our e-newsletters please e-mail Terri Grant
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|Previous Medical Advisers to the
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
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,
Dr Richard Appleton, RLCH NHS Trust - Alder Hey.
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,
Dr. Jean-Philippe Lacour, Service de Dermatologie, Hopital Archet
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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