Living with Lipodystrophy due to peptidic growth factors deficiency
A rare inherited condition with fat loss, thickened skin on the palms and soles, and insulin-resistant diabetes, noticed in newborns.
Understanding Lipodystrophy due to peptidic growth factors deficiency
Fat is lost from the arms and legs, face, and trunk. It comes with scleroderma-like skin changes, such as thickened skin on the palms and soles and skin color changes. Other signs include joint contractures, low body weight, a bird-like face with a beaked nose, a small jaw, and insulin-resistant diabetes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of fat under the skin of the limbs
- Skin color changes
- Beaked nose
- Changes in hair
- Chest differences
- Insulin-resistant diabetes
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, hormone specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); 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 genes. GARD does not name a specific gene or inheritance pattern.
Also known as: combined insulin, insulin-like growth factor 1 (igf1) and epidermal growth factor (egf) deficiency; combined insulin, insulin-like growth factor 1 and epidermal growth factor deficiency; growth factors, combined defect of; hoepffner dreyer reimers syndrome; hoepffner-dreyer-reimers syndrome; insulin, insulin-like growth factor i, and epidermal growth factor deficiency
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 Lipodystrophy due to peptidic growth factors deficiency.
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