Overview
Cutaneous mastocytosis-deafness-microtia syndrome is an extremely rare condition that combines three main features: skin problems caused by an excess of mast cells (a type of immune cell), hearing loss (deafness), and abnormally small or underdeveloped ears (microtia). Mast cells are immune cells that normally help fight infections and trigger allergic responses, but in this condition they build up in the skin, causing reddish-brown spots or patches that may itch, flush, or blister when rubbed or irritated. This skin involvement is called cutaneous mastocytosis. The hearing loss in this syndrome can range from mild to severe and may be related to the structural abnormalities of the outer ear (microtia), which can also affect the ear canal and middle ear structures. Because the ears may not form properly, both cosmetic and functional hearing problems can occur. This syndrome has been described in only a very small number of families in the medical literature, making it one of the rarest conditions known. Treatment is mainly supportive and focuses on managing each symptom individually. There is currently no cure, and care typically involves a team of specialists addressing the skin, hearing, and ear abnormalities separately. Early diagnosis and intervention, particularly for hearing loss, are important to support speech and language development in affected children.
Also known as:
Key symptoms:
Reddish-brown spots or patches on the skinSkin flushing or rednessItchy skin, especially when rubbedSkin blistering in infancyHearing loss or deafnessAbnormally small ears (microtia)Underdeveloped or missing ear canalHives or welts when skin is scratched (Darier sign)Possible middle ear abnormalitiesShort stature in some cases
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Cutaneous mastocytosis-deafness-microtia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cutaneous mastocytosis-deafness-microtia syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Cutaneous mastocytosis-deafness-microtia syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's hearing loss, and what are the best options for hearing support?,What triggers should we avoid to prevent mast cell flare-ups?,Should my child carry an epinephrine auto-injector, and when should we use it?,At what age should we consider reconstructive ear surgery?,Are there any medications we should avoid because of the mastocytosis?,Should we pursue genetic testing, and could it help other family members?,What educational supports should we request at school for hearing-related challenges?
Common questions about Cutaneous mastocytosis-deafness-microtia syndrome
What is Cutaneous mastocytosis-deafness-microtia syndrome?
Cutaneous mastocytosis-deafness-microtia syndrome is an extremely rare condition that combines three main features: skin problems caused by an excess of mast cells (a type of immune cell), hearing loss (deafness), and abnormally small or underdeveloped ears (microtia). Mast cells are immune cells that normally help fight infections and trigger allergic responses, but in this condition they build up in the skin, causing reddish-brown spots or patches that may itch, flush, or blister when rubbed or irritated. This skin involvement is called cutaneous mastocytosis. The hearing loss in this syndro
How is Cutaneous mastocytosis-deafness-microtia syndrome inherited?
Cutaneous mastocytosis-deafness-microtia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cutaneous mastocytosis-deafness-microtia syndrome typically begin?
Typical onset of Cutaneous mastocytosis-deafness-microtia syndrome is neonatal. Age of onset can vary across affected individuals.