Living with Poikiloderma with neutropenia
A genetic condition that mainly affects the skin and immune system, with a rash in infancy and a low number of infection-fighting cells.
Understanding Poikiloderma with neutropenia
It starts with a bumpy rash at 6 to 12 months of age. By about age 2 the rash fades, leaving darker and lighter patches and tiny surface blood vessels (poikiloderma). Other features include thick skin on the palms and soles, thick nails and fragile teeth. People have a long-term low number of neutrophils (neutropenia), so sinus infections and pneumonia are common in the first years of life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low neutrophil (white blood cell) count
- Darker and lighter patches of skin
- Thick skin on the palms and soles
- Dental cavities and fragile teeth
- Slow growth
- Enlarged spleen
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 allergy and immune system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in USB1 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
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Immune Deficiency 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 Neutropenia Network 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 USB1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: pn; poikiloderma with neutropenia clericuzio type; poikiloderma with neutropenia, clericuzio type
Patient organizations
- National Neutropenia NetworkPoikiloderma with neutropenia · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Poikiloderma with neutropenia.
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