Overview
Pseudoxanthomatous diffuse cutaneous mastocytosis is an extremely rare skin condition that belongs to a group of diseases called cutaneous mastocytosis. In this condition, a type of immune cell called a mast cell builds up in the skin in unusually large numbers. The word 'pseudoxanthomatous' refers to the fact that the skin changes look similar to another condition called pseudoxanthoma elasticum — the skin may appear yellowish, thickened, and have a pebbly or loose texture, somewhat resembling aged or lax skin. The term 'diffuse cutaneous' means the skin involvement is widespread rather than limited to small patches. This condition typically appears in infancy or early childhood. Affected children may develop widespread thickened, yellowish skin that can be itchy or form blisters. Because mast cells release chemicals like histamine, patients may experience flushing, itching, and sometimes more serious reactions if large amounts of these chemicals are released at once. In rare cases, mast cells can also affect internal organs. Treatment is mainly focused on managing symptoms. Antihistamines are the cornerstone of therapy to control itching, flushing, and other symptoms caused by mast cell chemical release. Avoiding known triggers that cause mast cells to release their contents — such as extreme temperatures, friction, certain medications, and stress — is also very important. In many childhood-onset cases of cutaneous mastocytosis, the condition may improve or resolve by adolescence, though the course can vary. Close monitoring by specialists is essential to watch for any progression or complications.
Also known as:
Key symptoms:
Widespread yellowish, thickened skinSkin that looks pebbly or looseIntense itching of the skinSkin blistering, especially in young childrenFlushing or redness of the skinHives or welts when the skin is rubbedSwelling of the skinAbdominal pain or crampingDiarrheaLow blood pressure episodesRapid heartbeatSkin that appears similar to pseudoxanthoma elasticum
Clinical phenotype terms (2)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Pseudoxanthomatous diffuse cutaneous mastocytosis.
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Specialists
View all specialists →No specialists are currently listed for Pseudoxanthomatous diffuse cutaneous mastocytosis.
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 Pseudoxanthomatous diffuse cutaneous mastocytosis.
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's condition, and is there any sign of internal organ involvement?,What specific triggers should we avoid, and are there medications my child should never take?,What is the likelihood that my child will outgrow this condition?,Should my child carry an epinephrine auto-injector, and when should we use it?,How often should we schedule follow-up visits and blood tests?,Are there any clinical trials or new treatments being studied for this condition?,Should we see any additional specialists beyond a dermatologist?
Common questions about Pseudoxanthomatous diffuse cutaneous mastocytosis
What is Pseudoxanthomatous diffuse cutaneous mastocytosis?
Pseudoxanthomatous diffuse cutaneous mastocytosis is an extremely rare skin condition that belongs to a group of diseases called cutaneous mastocytosis. In this condition, a type of immune cell called a mast cell builds up in the skin in unusually large numbers. The word 'pseudoxanthomatous' refers to the fact that the skin changes look similar to another condition called pseudoxanthoma elasticum — the skin may appear yellowish, thickened, and have a pebbly or loose texture, somewhat resembling aged or lax skin. The term 'diffuse cutaneous' means the skin involvement is widespread rather than
How is Pseudoxanthomatous diffuse cutaneous mastocytosis inherited?
Pseudoxanthomatous diffuse cutaneous mastocytosis follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pseudoxanthomatous diffuse cutaneous mastocytosis typically begin?
Typical onset of Pseudoxanthomatous diffuse cutaneous mastocytosis is infantile. Age of onset can vary across affected individuals.