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ORPHA:79503 Ichthyosis hystrix of Curth-Macklin

Activity limitation/participation restriction is described according to the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY, WHO 2007). The provided information is assessed from the whole patients’ population affected by the disease, receiving standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support). Functional consequences are organized by their frequency in the patients’ population. This general information may not apply to specific cases. Some difficulties reported here can occur with a different temporality or severity degree, and others that are not listed can nevertheless arise.

Environmental factors may however require particular attention for an optimal management of this disease. This information is restricted to the consequences of the disease and its management on functioning and daily life. Clinical aspects (including fatigue, pain, impact of the disease on the patient’s psychological state) are described through other documents (i.e. Disability factsheets).

Loss of an ability
Very frequent

Temporality
Severity
Attending mainstream school
Permanent limitation
Moderate
Attending school in an adapted mainstream/special environment
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Cooking/preparing meals
Permanent limitation
Moderate
Dealing with strangers
Permanent limitation
Moderate
Doing housework
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Moderate
Driving
Permanent limitation
Severe
Engaging in and maintaining intimate relationships
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Low
Engaging in sexual relationships
Permanent limitation
Severe
Handling objects (fine hand use)
Permanent limitation
Severe
Interacting with other people
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Moderate
Learning to write
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Low
Maintaining a standing position
Permanent limitation
Moderate
Maintaining family relationships
Permanent limitation
Low
Making/keeping friends
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Severe
Moving around within the home
Permanent limitation
Low
Participating in the arts and cultural activities
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Playing with others
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Severe
Reaching and catching objects
Permanent limitation
Severe
Seeking employment
Permanent limitation
Severe
Shopping
Permanent limitation
Moderate
Socializing
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Moderate
Travelling
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Moderate
Walking long distances
Permanent limitation
Severe
Walking short distances
Permanent limitation
Severe
Washing oneself
Permanent limitation
Moderate
Writing
Permanent limitation
Severe
Writing messages
Permanent limitation
Moderate
Environmental factors

Following are the environmental factors that should be addressed in order to improve the functioning or limit the restrictions deriving from this disease.

Temperature
Humidity
Seasonal cycles
Air quality
Source: [Expert]
Last update: 10/03/2023

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