Living with Acroosteolysis-keloid-like lesions-premature aging syndrome
A rare genetic condition with a prematurely aged look, scar-like skin lesions, and bone changes in the hands and feet.
Understanding Acroosteolysis-keloid-like lesions-premature aging syndrome
It brings loss of body fat, thin, see-through skin, sparse hair, and muscle wasting. Teeth erupt late. Keloid-like lesions form where there is pressure. Bone differences include loss of bone at the fingertips, small hands and feet, curving spine, thin bones, and joints that gradually stiffen. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Prematurely aged appearance
- Loss of bone at the fingertips (acroosteolysis)
- Short palms
- Delayed bone maturation
- Closely set eyes
- Cyst at the back of the brain
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 PDGFRB 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
- Genetic specialists (geneticists); 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 Progeria Research Foundation, Inc. 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 PDGFRB gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: acroosteolysis, keloid-like lesions, premature aging syndrome; premature ageing syndrome penttinen type; premature ageing syndrome, penttinen type; premature aging syndrome, penttinen type; prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly; progeroid syndrome, penttinen type
Patient organizations
- Progeria Research Foundation, Inc.Acroosteolysis-keloid-like lesions-premature aging syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Acroosteolysis-keloid-like lesions-premature aging syndrome.
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