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ORPHA:461 Recessive X-linked ichthyosis

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
Frequent

Temporality
Severity
Practicing sports
Permanent limitation
Moderate
Occasional

Temporality
Severity
Acquiring language
Acquisition delay
Moderate
Attending mainstream school
Acquisition delay
Low
Attending preschool
Acquisition delay
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Transient limitation
Low
Dealing with strangers
Acquisition delay
Moderate
Engaging in and maintaining intimate relationships
Acquisition delay
Moderate
Engaging in sexual relationships
Acquisition delay
Moderate
Focusing attention
Acquisition delay
Moderate
Interacting with other people
Acquisition delay
Moderate
Making/keeping friends
Acquisition delay
Moderate
Participating in a conversation
Acquisition delay
Moderate
Playing with others
Acquisition delay
Moderate
Producing nonverbal messages
Acquisition delay
Moderate
Receiving nonverbal messages
Acquisition delay
Moderate
Socializing
Acquisition delay
Moderate
Taking part in community life
Acquisition delay
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
Source: Dr. Heiko TRAUPE[Expert]
Last update: 18/07/2018

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The documents contained in thisweb site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.