Living with Laryngo-onycho-cutaneous syndrome
A rare genetic condition with overgrowth of red, bumpy tissue in the voice box and eyes, skin sores, and nail and tooth differences.
Understanding Laryngo-onycho-cutaneous syndrome
Many features come from abnormal overgrowth of granulation tissue, which is the red, bumpy tissue made during wound healing. In infants, a hoarse cry from ulcers or overgrowth in the larynx can be an early sign. Granulation tissue can block the airway and grow in the eyes, which can impair vision. Skin erosions heal slowly. Nails can be malformed, and teeth are small with thin enamel, which leads to cavities. It is usually seen as a subtype of junctional epidermolysis bullosa.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hoarse voice or cry
- Noisy breathing
- Overgrown granulation tissue
- Eye surface sores and eyelid scarring
- Skin sores and fragile skin
- Poorly formed nails and teeth
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 eye disease specialists, genetic specialists, gum, teeth and mouth specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in LAMA3 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
DEBRA of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: DEBRA of America
- 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 DEBRA of America 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 LAMA3 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: epidermolysis bullosa, junctional 2c, laryngoonychocutaneous; jeb2c; laryngeal and ocular granulation tissue in children from the indian subcontinent syndrome; laryngoonychocutaneous syndrome; loc syndrome; logic syndrome
Patient organizations
- DEBRA of AmericaLaryngo-onycho-cutaneous syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Laryngo-onycho-cutaneous syndrome.
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