Yale HIC: 0809004252

Name______________________________________

YALE DISORDERS OF KERATINIZATION PROJECT

333 Cedar Street, LMP 5040
New Haven, CT 06520
E-mail: choatelab@yale.edu

QUESTIONNAIRE
Thank you for participating in the Yale Disorders of Keratinization Project
and for completing this questionnaire.
You may finish the questionnaire all at once or start and stop as you wish. You may skip any
question that you do not wish to answer or that is unclear to you. You will have an opportunity to
discuss your responses with a physician in person or in a telephone consultation.
PLEASE BRING THIS FORM WITH YOU TO YOUR VISIT
There are 4 sections in the Questionnaire.
Section 1. IDENTIFYING INFORMATION ...................................................................... Page
Section 2. DIAGNOSIS ................................................................................................... Page
Section 3. FAMILY HISTORY ......................................................................................... Page
Section 4. PERSONAL HISTORY................................................................................... Page

2
4
5
6

If you have any questions, please do not hesitate to contact us by phone or email.
THANK YOU for your valuable contribution to disorders of keratinization research.

-1-

Section 1. IDENTIFYING INFORMATION

The purpose of these questions is to provide us with contact information so we may keep in touch with the person
participating.

Name of person participating (Last, First)

Mailing Address (street, city, state/province, zip, country)

Phone
Cell Phone
(
)
(
)
Fax
E-mail
(
)
How would you prefer we contact you? (Check all that are okay.)
Phone
Cell Phone
Work Phone
Fax
E-mail
Gender

Male

Female

Work Phone
(
)

Regular Mail

Birth date

Place of birth (City, State, Country)

Are you willing to be contacted to update your information? (about once a year)

Yes

If the person above is a minor (under the age of 18) please complete the following.
Name of person filling out this questionnaire with/for you (Last, First)
Mailing Address (street, city, state/province, zip, country)

Phone
Cell Phone
(
)
(
)
Fax
E-mail
(
)
How would you prefer we contact you? (Check all that are okay.)
Phone
Cell Phone
Work Phone
Fax
E-mail

Work Phone
(
)

Regular Mail

Name of legal guardian of the person participating (if not the person filling out the questionnaire) (Last, First)
Mailing Address (street, city, state/province, zip, country)

Phone
Cell Phone
(
)
(
)
Fax
E-mail
(
)
How would you prefer we contact you? (Check all that are okay.)
Phone
Cell Phone
Work Phone
Fax
E-mail

Work Phone
(
)

Regular Mail

No

Section 1. IDENTIFYING INFORMATION

List two friends or relatives who can be contacted if we cannot reach you
Name of Contact #1 (Last, First)
Mailing Address (street, city, state/province, zip, country)

Phone
Cell Phone
Work Phone
(
)
(
)
(
)
Fax
E-mail
(
)
How do you prefer we contact this person? (Check all that are okay.)
Phone
Cell Phone
Work Phone
Fax
E-mail
Regular Mail

Name of Contact #2 (Last, First)

Mailing Address (street, city, state/province, zip, country)

Phone
Cell Phone
Work Phone
(
)
(
)
(
)
Fax
E-mail
(
)
How do you prefer we contact this person? (Check all that are okay.)
Phone
Cell Phone
Work Phone
Fax
E-mail
Regular Mail

Your Physicians
Primary Physician Name (Last, First)
Mailing Address (street, city, state/province, zip, country)

Phone
(
)
Fax
(
)

E-mail

Current Dermatologist Name (Last, First)

Mailing Address (street, city, state/province, zip, country)

Phone
(
)
Fax
(
)

E-mail

Section 2. DIAGNOSIS
1. What is your current clinical skin disorder diagnosis? ____________________________________
2. Have you ever had genetic testing for your skin condition?

Yes

If yes, do you give us permission to obtain the genetic test results?

How should we obtain results?
I will send them to you

No

Yes

No

Contact the following person/institution for genetic testing results

(you will need to sign separate release form as well)

Name of person or laboratory

Phone

Mailing Address (street, city, state/province, zip, country)

3. Have you ever had a skin biopsy? (A skin biopsy is when a piece of skin is removed and sent to a
doctor or scientist for examination under a microscope.) Yes No
If yes, what were the approximate dates of the biopsy or biopsies?

_________________ ________________

_________________

3a. Do you give us permission to obtain medical records/reports about the biopsy(ies)? Yes
How should we obtain results?
I will send them to you

No

Contact the following person/institution for results (sign separate record release form)

Name of person or laboratory

Phone

Mailing Address (street, city, state/province, zip, country)

3b. Do you give us permission to request the tissue blocks (skin tissue that is left in storage) and glass
slides (prepared pieces of tissue on a microscope slide) of your biopsy(sies)? Yes No
How should we obtain these tissue blocks?
I will send them to you

Contact the following person/institution (sign separate release form)

Name of person or laboratory

Phone

Mailing Address (street, city, state/province, zip, country)

4. Has any researcher put your cells into a culture to grow them? Yes No
If yes, do you give us permission to request the cells in culture? Yes No
How should we obtain these tissue blocks, glass slides or cells in culture?
I will send them to you

Contact the following person/institution (sign separate release form)

Name of person or laboratory

Phone

Mailing Address (street, city, state/province, zip, country)

Section 3. FAMILY HISTORY

To help us understand better the inheritance of your skin problem, we ask questions about family members. Please invite
other family members who have ichthyosis or other disorders of keratinization to contact us if they wish to participate.

Mothers name___________________________
Maiden name______________________
Birthplace (city/state/county)_______________________________
Fathers name ___________________________
Birthplace (city/state/county)_______________________________
Were your parents related (by blood) before they were married?
Yes
No
What is your Ethnicity/Country of Origin (e.g. Caucasian/England and Spain)

Please list your immediate family members:

Brother(s)
Yes
No
Sister(s)
Yes
No
Son(s)
Yes
No
Daughter(s)
Yes
No

Age(s) of brother(s):
Age(s) of sister(s):
Age(s) of son(s):
Age(s) of daughter(s):

Who was the first person in your family to be affected?

Myself
If other, please list name and relationship
_________________________________________________
Is anyone else in your family affected?
Yes
No
Name

Relationship

Name

Relationship

Name

Relationship

Other

Section 4. PERSONAL HISTORY

Information About Birth and Development
Was your mother late for dates (were you born later than expected)?
Number of days late____________

Yes

No

Was your mother early for dates (were you born earlier than expected)?
Number of days early____________

Yes

No

Approximately how long did your mothers labor last? _____________________________

Were you born by caesarian section (C-section)?
Yes
No
If yes, what was the reason for C-section? _____________________________________________
Was (were) there any problem(s) with the pregnancy?
Yes
No
If yes, what kind of problem(s)?
_______________________________________________________________________________
_______________________________________________________________________________
_______________________________________________________________________________
Were there problems with your skin when you were born?
Yes
No
(if no, move to next section)
Check all of the following that describe your skin when you were born
Thickened
Scaly
Red
Fragile (easily injured or torn)
Blistered
Raw

Were you born with a parchment or cellophane (collodion) membrane covering your skin?
Yes
No
Was your growth as an infant delayed?
Yes
If yes, when was this? _____ months of age
Was your growth as a child delayed?
Yes
If yes, when was this? _____ years of age

No
No

At what age did you first sit up? (year, month) _________

Early
Average
Dont know

At what age did you first walk? (year, month) _________

Early
Average
Dont know

At what age did you say your first word? ____

Early
Average
Late
How many years of formal school education have you had? ______Years
Current grade_______
Highest degree __________
Were you ever behind in school (repeat a year)?
Were you ever in a special needs class?

Yes

Yes

No

Late
Late
Dont know

If yes, what grade? _________

No

Have you ever been tested as 'gifted' or with an above-average IQ?

Yes

Current occupation:_________________________________________________
6

No

Section 4. PERSONAL HISTORY

Current problems with your skin
Does your skin get painful cracks, splits or fissures?

Yes

No

Do you have pain in your skin?

Yes
No
What hurts? _________________________
What seems to bring it on? _________________________________________________________
On a scale of 1-10 (10 being unbearable), how much pain are you in?
1

10

Is the pain constant or related to certain activities or movements?

Yes
No
Please describe: _________________________________________________________________
_______________________________________________________________________________
Does your skin seem to be more sensitive to pain than your friends/unaffected relatives skin?
Yes
No
If yes, which part(s) of your skin? ____________________________________________________
_______________________________________________________________________________
_______________________________________________________________________________
Does your skin itch?
Yes
No
On a scale of 1-10 (10 being unbearable), how itchy are you?
1

10

Pruritus (itch) Scale

*Pruritus Scale adapted with permission from: Elman S, Hynan LS, Gabriel V, Mayo MJ. The 5-D itch scale: a new measure of
pruritus. Br J Dermatol. 2010 Mar; 162(3)L587-93.

During the last 2 weeks, how many hours a day have you been itching?
less than 6 hours/day

6-12/hours/day

12-18 hours/day

18-23 hours/day

All day

Please rate the intensity of your itching over the past 2 weeks
not present

mild

moderate

severe

unbearable

Over the past 2 weeks has your itching gotten better or worse compared to the previous month?
completely resolved
worse

much better but still present

little better but still present

unchanged

getting

Rate the impact of your itching on the following activities over the last 2 weeks
Sleep
never affects sleep
occasionally delays falling asleep
frequently delays falling asleep
delays falling asleep and occasionally wakes me up at night
delays falling asleep and frequently wakes me up at night

Leisure/Social
never affects this activity
rarely affects this activity
occasionally affects this activity
frequently affects this activity
always affects this activity

Housework/Errands
never affects this activity
rarely affects this activity
occasionally affects this activity
frequently affects this activity
always affects this activity

Work/School
never affects this activity
rarely affects this activity
occasionally affects this
activity
frequently affects this
activity
always affects this activity

What helps you most with improving itch?

_________________________________________________________________________________
_________________________________________________________________________________
_________________________________________________________________________________
_________________________________________________________________________________
7

Section 4. PERSONAL HISTORY

IF THE AFFECTED INDIVIDUAL IS AN ADULT, ANSWER THE FOLLOWING QUESTIONS:
(if you are under 18, please skip to the next section (Childrens Dermatology Life Quality Index)
Dermatology Life Quality Index
Reproduced with permission: A Y Finlay, G K Khan April 1992 www.dermatology.org.uk

The aim of this questionnaire is to measure how much your skin problem has affected your life
OVER THE LAST WEEK.
Over the last week, how itchy, sore, painful or stinging has your skin been?
very much
a lot
a little
not at all
Over the last week, how embarrassed or self conscious have you been because of your skin?
very much
a lot
a little
not at all
Over the last week, how much has your skin interfered with you going shopping or looking after
your home or garden?
very much
a lot
a little
not at all
not relevant
Over the last week, how much has your skin influenced the clothes you wear?
very much
a lot
a little
not at all
not relevant
Over the last week, how much has your skin affected any social or leisure activities?
very much
a lot
a little
not at all
not relevant
Over the last week, how much has your skin made it difficult for you to do any sport?
very much
a lot
a little
not at all
not relevant
Over the last week, has your skin prevented you from working or studying?
very much
a lot
a little
not at all
not relevant
If "No", over the last week how much has your skin been a problem at work or studying?
a lot
a little
not at all
Over the last week, how much has your skin created problems with your partner or any of your
close friends or relatives?
very much
a lot
a little
not at all
not relevant
Over the last week, how much has your skin caused any sexual difficulties?
very much
a lot
a little
not at all
not relevant
Over the last week, how much of a problem has the treatment for your skin been, for example by
making your home messy, or by taking up time?
very much
a lot
a little
not at all
not relevant
GO TO PAGE 10 TO CONTINUE

Section 4. PERSONAL HISTORY

IF THE AFFECTED INDIVIDUAL IS UNDER 18, ANSWER THE FOLLOWING QUESTIONS:
(if you are an adult and answered the above questions, please skip to the next section
Childrens Dermatology Life Quality Index
Reproduced with permission: MS Lewis-Jones, AY Finlay, May 1993 www.dermatology.org.uk

The aim of this questionnaire is to measure how much your skin problem has affected your life
OVER THE LAST WEEK.
Over the last week, how itchy, scratchy, sore or painful has your skin been?
very much
quite a lot
only a little
not at all
Over the last week, how embarrassed or self conscious, upset or sad have you been because of
your skin?
very much
quite a lot
only a little
not at all
Over the last week, how much has your skin affected your friendships?
very much
quite a lot
only a little
not at all
Over the last week, how much have you changed or worn different or special clothes/shoes
because of your skin?
very much
quite a lot
only a little
not at all
Over the last week, how much has your skin trouble affected going out, playing or doing
hobbies?
very much
quite a lot
only a little
not at all
Over the last week, how much have you avoided swimming or other sports because of your skin
trouble?
very much
quite a lot
only a little
not at all
Was the last week school time or holiday time? _______________
If school time: Over the last week, how much did your skin problem affect your school work?
very much
quite a lot
only a little
not at all
If holiday time: Over the last week, how much did your skin problem affect your enjoyment of the
holiday?
very much
quite a lot
only a little
not at all
Over the last week, how much trouble have you had because of your skin with other people calling
you names, teasing, bullying, asking questions, or avoiding you?
very much
quite a lot
only a little
not at all
Over the last week, how much has your sleep been affected by your skin problem
very much
quite a lot
only a little
not at all
Over the last week, how much of a problem has the treatment for your skin been?

very much
quite a lot
GO TO PAGE 10 TO CONTINUE

only a little

not at all

Section 4. PERSONAL HISTORY

CONTINUE HERE
Does your skin have an odor?
Have you had problems with infections of your skin?
Does your skin become easily infected now?
How many times per year does it become infected?
1-2 times/year

3-4 times/year

Yes
Yes
Yes

No
No
No

Yes
Yes

No
No

Yes

No

Yes

No

Yes

No

Yes

No

Yes
Yes
Yes
Yes

No
No
No
No

more than 5 times/year

Do you now or did you at one time have eczema?

Do you perspire (sweat) normally?
Place a check mark by the best answer
Not at all
Less than most people
About average
More than most people

Do you have difficulties in temperature regulation?

problem keeping warm

problem keeping cool

Has the severity of your skin changed with respect to any of the following?
Age
Temperature
Seasons of the year
Humidity
Sunlight
Diet
Other

Please explain:
_________________________________________________________________
Have you ever had skin cancer or other tumor of the skin?
What type(s)? ______________________________ Location: ________________
How was it treated? __________________________________________________
Hair
Do you have any hair loss?
Location ________________________________
Is your hair unusual in any other ways?
Thick
Thin
Unruly
Brittle
Fragile

Teeth and Mouth

Were you born with any teeth?
Have you had any premature tooth loss (not due to injury)?
Have you had problems with your gums?
Have you had sores in your mouth or on your tongue?

10

Section 4. PERSONAL HISTORY

Digits and Nails
Were you born with any misshapened fingers or toes?
Have you had a tight band of skin around a finger or toe?
Have you had nails that detached (fallen off not due to injury)?
Have you had painful nails?
Have you had nail or nailbed infections?
Have you had thickened nails?

Yes
Yes
Yes
Yes
Yes
Yes

1. How many of your fingernails are thickened at this time? ________

2. Put an x on each nail that is thickened
Put an R for any nail that has been surgically removed
Left
1___
2___
3___
4___
5___

Right
1___
2___
3___
4___
5___

3. How many of your toenails are thickened at this time? ________

4. Put an x on each nail that is thickened
Put an R for each nail that has been surgically removed
Left
1___
2___
3___
4___
5___

Right
1___
2___
3___
4___
5___

5. At approximately what age did your nails thicken?

FINGERNAILS

TOENAILS

____________________

___________________

11

No
No
No
No
No
No

Section 4. PERSONAL HISTORY

Treatments and Medications for your Skin
Try to list as many treatments or medications as you can remember that you have used to take care of
your skin. We want to know how well they worked and why you may have stopped.
Current treatments:
_______________________________________________________________________________
_______________________________________________________________________________
_______________________________________________________________________________
_______________________________________________________________________________
_______________________________________________________________________________
Previous treatments that worked well:
(1)
(2)
(3)
(4)
(5)
Previous treatments that gave you problems:
(1)
(2)
(3)
(4)
(5)

Reason for stopping:

Problem or Reason for stopping:

At present, how much time do you spend daily performing your skin care routine?
no time
mins

less than 10 mins

10-20 mins

20-30 mins

30-45 mins

45-60 mins

greater than 60

Was there a period when you spent more or less time?

Yes
No
If yes, when and for how long? ________________________________________________________
Do you have a bathtub?
Yes
How often do you take a bath?
never

1-2 times weekly

No

3-4 times weekly

5-6 times weekly

daily

greater than once daily

Do you add anything to the water in the tub?

Yes
No
If yes, what do you add? _____________________________________________________________

12

Section 4. PERSONAL HISTORY

General Health History
Sensory Systems Please describe any problems as completely as possible
Do you now or did you at one time have hearing problems?
Please describe:__________________________________________________
Do you now or did you at one time have eye problems?
Please describe:__________________________________________________
Does light now or did it at one time hurt your eyes?
Please describe:__________________________________________________
Do you now or did you at one time have neurologic problems?

Yes

No

Yes

No

Yes

No

Yes

No

Yes

No

Yes

No

Yes

No

Yes

No

Yes

No

Yes

No

Yes

No

Yes

No

Yes

No

Yes

No

(Examples: Migraine headaches, numbness in parts of your body, loss of balance, etc.)

Please describe:__________________________________________________
Do you now or did you at one time have spasticity or seizures?
(Examples: Weakness in an arm or leg, uncontrolled jerking of a body part, partial or full
seizures, etc.)

Please describe:__________________________________________________
Muscular and Skeletal Systems
Do you now or did you at one time have problems with your bones?
Please describe:__________________________________________________
Do you now or did you at one time have problems with your muscles?
Please describe:__________________________________________________
Are you able to extend your fingers all the way?
Please describe:__________________________________________________
Are you able to make a tight fist?
Please describe:__________________________________________________
Cardiovascular and Blood Systems
Do you now or did you at one time have problems with your heart or circulation?
Please describe:__________________________________________________
Do you now or did you at one time have problems with your blood?
Please describe:__________________________________________________
Immune System and Allergies
Do you now or did you at one time have problems with your immune system?
Please describe:__________________________________________________
Do you now or did you at one time have environmental or food allergies?
Please describe (tested allergy or sensitivity?:
_______________________________________________________________
_______________________________________________________________
Metabolism
Do you now or did you at one time have hormonal or metabolic problems?
Please describe:__________________________________________________

13

Section 4. PERSONAL HISTORY

Respiratory System
Do you now or did you at one time have problems with breathing or your lungs?
Please describe (asthma, recurrent pneumonias, reactive airway disease, etc.):
________________________________________________________________
Digestion and Elimination
Do you now or did you at one time have problems with your urinary tract
system?
Please describe:__________________________________________________
Do you now or did you at one time have problems with your GI tract/digestion?
Please describe:__________________________________________________

Yes

No

Yes

No

Yes

No

Infection History
Do you now or did you at one time have infections that were NOT in your skin?
Please describe:__________________________________________________

Yes

No

Cancer History
Do you now or did you at one time have cancer?
Please describe:__________________________________________________

Yes

No

Yes

No

Yes

No

Yes

No

Emotional and Psychiatric History

Do you now or did you at one time have emotional or psychiatric problems?
If yes, please select all that apply
Depression
Suicidal feelings
Anger management problems
Other (please explain) _______________________________________________________

Please note where and how they were/are treated: ______________________

_______________________________________________________________
Other Medical or Learning Problems
Are there other medical or learning problems that we have not asked about?
Please describe:__________________________________________________
________________________________________________________________

Surgeries
Type:
Type:
Type:
Type:

Date:
Date:
Date:
Date:

Current Medications and Supplements (not including topicals for skin):

14

Section 4. PERSONAL HISTORY

Do you have any medication allergies?
If yes, please list:

Yes

No

Is there anything else we should know about you or your skin that we have not asked?

OPTIONAL: Please tell us why you are participating in this study. What are your expectations
of this study?

You will have an opportunity to have questions about your skin condition answered at the
end of your research visit. Please list questions you would like to address here.

15