Living with Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
A rare condition with thick, scaly skin from birth, hair loss, turned-out eyelids and lips, and intellectual disability.
Understanding Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
It is a type of ectodermal dysplasia. It looks like Sjögren-Larsson syndrome but lacks the nervous system or eye (macular) changes. GARD notes there have been no further descriptions in the medical literature since 1987.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe scaly, thick skin (ichthyosis) from birth
- Hair loss, including no hair on the scalp
- Eyelids that turn outward (ectropion)
- Lips that turn outward (eclabion)
- Intellectual disability and delayed development
- Loose, inelastic skin (cutis laxa)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types and National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types, National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Foundation for Ichthyosis and Related Skin Types and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ichthyosis with alopecia, eclabium, ectropion, and impaired intellectual development; ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome; jagell holmgren hofer syndrome; jagell-holmgren-hofer syndrome; jagell, holmgren, hofer syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesIchthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome.
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