bullous dystrophy, macular type
Findings
No curated finding names bullous dystrophy, macular type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic disorder characterized by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.
Definition from the Mondo Disease Ontology (MONDO:0010540), read 2026-09-29. CC BY 4.0.
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- Frequent (30% to 79% of cases)
- AcrocyanosisHPOHP:0001063
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- Congenital abnormal hair patternHPOHP:0011361
- Frequent (30% to 79% of cases)
- Corneal opacityHPOHP:0007957
- Frequent (30% to 79% of cases)
- Hyperpigmentation of the skinHPOHP:0000953
- Frequent (30% to 79% of cases)
- Microcephaly
Show the remaining 11
- Spotty hypopigmentationHPOHP:0005590
- Frequent (30% to 79% of cases)
- Tapered fingerHPOHP:0001182
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- AtrichiaHPOHP:0500262
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
Where it sits
- A kind of