Living with Toriello-Lacassie-Droste syndrome
A rare genetic condition with growths on the eye surface and patches of missing skin, often on the scalp, present at birth.
Understanding Toriello-Lacassie-Droste syndrome
It is marked by small benign growths on the surface of the eye (epibulbar dermoids) and areas where skin is missing at birth (aplasia cutis congenita). Other features can involve the heart, brain, eyes, ears, and growth. It is noticed in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Growths on the eye surface (epibulbar dermoids)
- Areas of missing skin at birth (aplasia cutis)
- Crossed eyes (strabismus)
- Bulging eyes (proptosis)
- Feeding difficulties and slow growth
- Missing nerve fibers joining the brain halves
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 KRAS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias 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
This condition is caused by changes in the KRAS gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: aplasia cutis congenita with epibulbar dermoid syndrome; aplasia cutis congenita-epibulbar dermoids syndrome; oculoectodermal syndrome; oculoectodermal syndrome, somatic; toriello lacassie droste syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Toriello-Lacassie-Droste syndrome.
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