Living with Incontinentia pigmenti syndrome
A genetic condition that mainly affects the skin and can involve the eyes, teeth, hair, and brain; it is more common in females.
Understanding Incontinentia pigmenti syndrome
Skin changes evolve through childhood and young adulthood. Many babies have a blistering rash at birth that heals, then wart-like spots, then swirled gray or brown patches that fade. People may be at risk of stroke and vision loss, especially in the first year of life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blistering rash in infancy
- Swirled gray or brown skin patches
- Lines of light-colored skin on arms and legs
- Tooth differences
- Nail differences
- Hair loss on the scalp
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 gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in IKBKG 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
National Foundation for Ectodermal Dysplasias and Epilepsy Foundation 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); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias, Epilepsy Foundation
- 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 National Foundation for Ectodermal Dysplasias 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 IKBKG gene cause this condition. It is inherited in an X-linked pattern, meaning the gene is on the X chromosome.
Also known as: bloch-siemens syndrome; bloch-sulzberger syndrome; incontinentia pigmenti; incontinentia pigmenti of bloch-sulzberger; incontinentia pigmenti, familial male-lethal type; incontinentia pigmenti, type ii
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Epilepsy FoundationEpilepsy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Incontinentia pigmenti syndrome.
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