Adermatoglyphia

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at January 4, 2017
StartDiseasesAdermatoglyphia

Adermatoglyphia is an extremely rare genetic condition that causes a person to be born without fingerprints. This disorder affects only a handful of people in the world. It is most often not accompanied by any other symptoms and there is no treatment. Adermatoglyphia, informally known as immigration delay disease, is the absence of ridges on the skin on the finger pads, palms of the hands, toe pads, and soles of feet.

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Definition & Facts

Adermatoglyphia is extremely uncommon; there are only four known family lines that are affected by it. This genetic disorder was brought to attention in 2011 when a woman from Switzerland was having trouble visiting the United States because of her lack of fingerprints.

When dermatologists Peter Itin and Eli Sprecher investigated further, they found that it was prevalent throughout the woman’s extended family and were able to single out the genetic mutation. In most cases, the affected person has one parent who also has the condition.

Symptoms & Complaints

The main symptom of adermatoglyphia is a lack of fingerprints. A person with this disorder will have entirely flat fingertips, palms, toe pads, and feet soles. In most cases, there are no other symptoms that accompany this disorder; they are entirely healthy.

Adermatoglyphia is in some cases associated with other symptoms, mostly affecting the skin. This can include blistering of the skin in areas exposed to friction or heat, small white bumps also known as milia, and a reduced number of sweat glands on the feet and hands.

Missing fingerprints are a feature of a few other genetic disorders classified as ectodermal dysplasias. These include Naegeli-Franceschetti-Jadassohn syndrome, or NFJS, and dermatopathia pigmentosa reticularis. These disorders, however, also cause much more severe health issues affecting the skin, sweat glands, hair, and teeth.

Causes

This atypical disorder is caused by a genetic mutation passed down through families from generation to generation. This mutation occurs in the SMARCAD1 gene. This is the gene that provides the body the information it needs to make two different versions of the SMARCAD1 protein: a full-length version and a shorter version. The full-length protein is active in multiple tissues while the shorter version is expressed only in the skin. There has been some research that suggests the full-length SMARCAD1 protein also regulates the activity of a wide variety of genes, specifically those involved in maintaining the stability of cells’ genetic information.

Very little is known about the shorter version of the protein, but it is apparent that it plays a critical role in the formation of skin ridges. These ridges, also known as dermatoglyphs, develop early on before birth and remain the same throughout a person’s life. The gene mutation that causes adermatoglyphia only affects the shorter, skin-specific SMARCAD1 protein and reduces the amount of it that is available in skin cells. Adermatoglyphia is inherited in an autosomal dominant pattern, meaning one copy of the mutated SMARCAD1 gene in each cell is enough to cause the condition.

Diagnosis & Tests

Diagnosing a genetic disease, especially an uncommon one such as this, can be very challenging. Healthcare professionals must take many steps in order to provide an accurate diagnosis. This often includes looking at symptoms, performing physical examinations, looking at past medical history, and running laboratory tests.

The diagnosis for adermatoglyphia includes an SMARCAD1 test. The Genetic Testing Registry, or GTR, provides pertinent diagnosis information. To be officially diagnosed with this disorder, one must undergo a genetic test. The Genetic Test Registry was created for researchers, doctors, and other healthcare providers. In order to set up a diagnosis session, patients should contact a genetics professional or health care provider. 

Treatment & Therapy

Treating and living with a genetic condition can have a severe impact on a patient and their family’s daily life. As of yet, there is no cure for adermatoglyphia. There are, however, a number of resources to help families learn about and cope with this rare genetic disease.

Prevention & Prophylaxis

As of right now, there is no medical way to prevent this genetic disorder. Adermatoglyphia affects so few people in the world and causes no serious health issues, so there really is no call for prevention techniques. Some people are simply born without fingerprints.