Living with Rombo syndrome
A rare genetic skin condition with pitted scarring, small bumps, thin hair, and blue-tinged hands and feet.
Understanding Rombo syndrome
Its features are small pitted skin thinning (vermiculate atrophoderma), tiny white bumps (milia), sparse hair, skin growths called trichoepitheliomas, widened blood vessels with a bluish tint in the hands and feet, and basal cell skin cancers.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes these:
- Pitted, thinned skin (vermiculate atrophoderma)
- Tiny white bumps (milia)
- Sparse hair
- Skin growths (trichoepitheliomas)
- Bluish hands and feet (cyanosis)
- Basal cell skin cancers
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 cancer specialists, genetic 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
- Cancer specialists (oncologists); Genetic specialists (geneticists); 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 lists autosomal dominant inheritance, so one changed copy of a gene can be enough. It does not name a gene.
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 Rombo syndrome.
Explore research for Rombo syndrome
Explore actively recruiting Rombo syndrome studies with HealthSpark.
Find actively recruiting studies for Rombo syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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