Adermatoglyphia
A rare genetic disorder causing absence of fingerprints.
Adermatoglyphia is a very rare genetic condition that leaves people without fingerprints. Only five extended families around the world are known to have it. Professor Peter Itin gave it the informal nickname "immigration delay disease" after a patient of his had trouble entering the United States because he had no fingerprints for identification.
A 2007 case study described a Swiss individual without fingerprints. Researchers traced the trait to a specific point mutation on chromosome 4q22, in a splice-site of the SMARCAD1-helicase gene. This mutation produces a shortened version of a skin-specific protein. Because the mutation is heterozygous, the condition follows an autosomal dominant inheritance pattern. The Swiss patient and eight relatives with the mutation all had flat finger pads and fewer sweat glands on their hands. Unlike other conditions that can also cause missing fingerprints, adermatoglyphia has no additional side effects.
The condition and the 2007 Swiss case were referenced in an episode of the TV series *Death in Paradise* titled "She Was Murdered Twice." Israeli author Sarah Blau has stated in an interview that she was born with the disorder.
- field
- Medical genetics
- known_for
- Preventing fingerprint development
- nickname
- Immigration delay disease
- affected_families
- 5 extended families worldwide
Lore & Background
In 2007, an isolated finding described a person from Switzerland who lacked fingerprints. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected, resulting in a shortened form of the skin-specific protein. The heterozygous expression of the mutation suggests an autosomal dominant mode of inheritance. The Swiss patient and eight of her relatives who also had the mutation all had flat finger pads and a reduced number of sweat glands in the hands. Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no side effects.
Reader's Guide
Adermatoglyphia is significant as a rare genetic disorder that highlights the role of the SMARCAD1 gene in fingerprint formation. Its discovery in a Swiss family in 2007 provided the first genetic mapping of the condition, linking it to a point mutation on chromosome 4q22. The disorder's nickname, 'immigration delay disease,' underscores practical challenges faced by affected individuals in identification-dependent contexts. The condition's autosomal dominant inheritance pattern and lack of side effects distinguish it from other causes of fingerprint absence. Its mention in popular culture, such as in the television series Death in Paradise and by author Sarah Blau, has increased public awareness. The disorder remains a subject of genetic research, with only five known affected families worldwide.
Did You Know?
- The disorder was informally nicknamed 'immigration delay disease' by Professor Peter Itin.
- In 2007, a Swiss patient and eight relatives with the mutation had flat finger pads and reduced sweat glands in the hands.
- The condition is mentioned in the Death in Paradise episode 'She Was Murdered Twice'.
- Israeli author Sarah Blau revealed she was born with the disorder.
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