Living with X-linked ichthyosis with steryl-sulfatase deficiency
A skin condition, mostly in males, in which skin cells shed slowly and build up dark scales, mainly on the trunk and neck.
Understanding X-linked ichthyosis with steryl-sulfatase deficiency
Scales are often dark and usually cover only part of the body, most often the trunk and back of the neck. They are usually not found on the face, scalp, palms, or soles. It mostly affects males and is present from birth. Rarely, it is part of a genetic syndrome that affects other body parts.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dry skin
- Dark scales on the trunk and neck
- Thickened skin (hyperkeratosis)
- Reduced sweating
- Clouding of the cornea
- Attention problems in some people
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 eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in STS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- 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
It is usually caused by a change or deletion in the STS gene. It is inherited in an X-linked recessive way.
Also known as: ichthyosis , x-linked, x-linked recessive; ichthyosis (disease), x-linked; ichthyosis, x linked; ichthyosis, x-linked; placental steroid sulfatase deficiency; recessive x-linked ichthyosis
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesX-linked ichthyosis with steryl-sulfatase deficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked ichthyosis with steryl-sulfatase deficiency.
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