Living with Ichthyosis bullosa of Siemens
A rare inherited skin condition with blisters and raw areas at birth and thickened, scaly skin.
Understanding Ichthyosis bullosa of Siemens
It is a type of keratinopathic ichthyosis, a group of scaly skin conditions linked to skin protein changes. Symptoms appear in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blisters on the skin
- Scaly, dry skin (ichthyosis)
- Thin skin
- Thickened skin on the palms and soles
- Swelling (edema)
- Redness of the skin (less common)
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 genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in KRT2 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
- 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
Changes in the KRT2 gene cause this condition. It is inherited in an autosomal dominant pattern, so one changed copy of the gene can be enough.
Also known as: bullous type ichthyosis; ibs; sei; superficial epidermolytic ichthyosis
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesIchthyosis bullosa of Siemens · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ichthyosis bullosa of Siemens.
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