Living with Osteosclerosis-ichthyosis-premature ovarian failure syndrome
A rare genetic condition with dense bones, dry scaly skin, and early loss of ovary function, usually found in adulthood.
Understanding Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Bone changes affect the long bones, skull, and hand bones. The skin looks like ichthyosis vulgaris, and the ovaries are underdeveloped. People usually come to care in adulthood with swelling of the arms or legs and occasional mild leg pain. GARD lists onset as teenager and adult.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dense bones (increased bone mineral density)
- Dry, scaly skin (ichthyosis)
- Early loss of ovary function (premature ovarian insufficiency)
- Swelling of the feet and legs
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 bone and joint specialists, genetic specialists, hormone specialists and maternal-fetal medicine specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types and Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types, Resolve: The National Infertility Association
- 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 Foundation for Ichthyosis and Related Skin Types 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
GARD says changes in genes cause this condition. It doesn't list a specific gene or how it is inherited.
Also known as: osteosclerosis with ichthyosis and premature ovarian failure; sclerosing dysplasia of bone with ichthyosis and premature ovarian failure; sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesOsteosclerosis-ichthyosis-premature ovarian failure syndrome · United States
- Resolve: The National Infertility AssociationInfertility · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteosclerosis-ichthyosis-premature ovarian failure syndrome.
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