Living with Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
A rare inherited condition with dark thick skin patches, insulin resistance, muscle cramps, and enlarged hands and feet.
Understanding Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
The name lists the main features: acanthosis nigricans (darkened, thickened skin), insulin resistance, severe muscle cramps, and acral hypertrophy (enlarged hands and feet). People may also have extra body hair and polycystic ovaries. GARD lists onset as adult.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Darkened, thickened skin (acanthosis nigricans)
- Insulin resistance
- Insulin-resistant diabetes
- Muscle spasms
- Extra body hair (hirsutism)
- Polycystic ovaries
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
GARD says changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps
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 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome.
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