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Inheritance Patterns of Infantile Hemangioma
Eeva Castrén1, Päivi Salminen2, Miikka Vikkula3
1Department of Otorhinolaryngology and Head and Neck Surgery, Helsinki University Hospital, University of Helsinki, Helsinki, Finland; eeva.castren@helsinki.fi.
Pediatrics
|December 13, 2016
Summary
Familial clustering of infantile hemangioma (IH) suggests genetic links. This study found evidence for autosomal dominant or maternal inheritance patterns in IH, highlighting the need for further genetic research.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Infantile hemangioma (IH) exhibits familial clustering, but its inheritance patterns and genetic basis remain unclear.
- Understanding the genetic factors influencing IH is crucial for diagnosis and treatment.
Purpose of the Study:
- To investigate the inheritance patterns of infantile hemangioma (IH) within families.
- To analyze the characteristics of familial IH cases.
- To explore potential genetic mechanisms underlying IH.
Main Methods:
- Collected IH pedigrees from 185 patients in Finland.
- Utilized hospital records and questionnaires to gather family history and IH characteristics.
- Conducted interviews for extended pedigree data in families with a positive IH history.
Main Results:
- One-third of IH families reported a positive family history, with similar characteristics to sporadic cases.
- Familial IH cases showed higher long-term discomfort rates compared to sporadic cases.
- Segregation analysis suggested autosomal dominant inheritance with incomplete penetrance or maternal transmission.
Conclusions:
- Evidence supports at least two inheritance mechanisms for IH: autosomal dominant and maternal transmission.
- Further genetic studies are necessary to elucidate the inheritance of infantile hemangioma.
- Identical infantile hemangiomas were observed in monozygotic twins.
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