Living with Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
A rare inherited condition affecting skin, muscles, tendons, lungs, and pancreas.
Understanding Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Skin changes (poikiloderma) begin in infancy, mostly on the face. Other features can include sparse hair, reduced sweating, and joint contractures from tight tendons in childhood. Most people develop muscle weakness in the arms and legs. Adults can develop pulmonary fibrosis, scarring in the lungs that makes breathing harder.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Patchy skin color changes and small blood vessels (poikiloderma)
- Joint stiffness from tight tendons (contractures)
- Muscle weakness and wasting
- Scarring of the lungs (pulmonary fibrosis)
- Reduced sweating
- Sparse hair, eyebrows, and eyelashes
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, genetic specialists, lung and breathing specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in FAM111B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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 caused by changes in the FAM111B gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome; poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis; poiktmp syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary sclerosing poikiloderma with tendon and pulmonary involvement.
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