viernes, 1 de mayo de 2015

Adermatoglyphia - Genetics Home Reference

Adermatoglyphia - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is adermatoglyphia?

Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. Because no two people have the same patterns, fingerprints have long been used as a way to identify individuals. However, people with adermatoglyphia do not have these ridges, and so they cannot be identified by their fingerprints. Adermatoglyphia has been called the "immigration delay disease" because affected individuals have had difficulty entering countries that require fingerprinting for identification.
In some families, adermatoglyphia occurs without any related signs and symptoms. In others, a lack of dermatoglyphs is associated with other features, typically affecting the skin. These can include small white bumps called milia on the face, blistering of the skin in areas exposed to heat or friction, and a reduced number of sweat glands on the hands and feet. Adermatoglyphia is also a feature of several rare syndromes classified as ectodermal dysplasias, including a condition called Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis that affects the skin, hair, sweat glands, and teeth.

How common is adermatoglyphia?

Adermatoglyphia appears to be a rare condition. Only a few affected families have been identified worldwide.

What genes are related to adermatoglyphia?

Adermatoglyphia is caused by mutations in the SMARCAD1 gene. This gene provides information for making two versions of the SMARCAD1 protein: a full-length version that is active (expressed) in multiple tissues and a shorter version that is expressed only in the skin. Studies suggest that the full-length SMARCAD1 protein regulates the activity of a wide variety of genes involved in maintaining the stability of cells' genetic information. Little is known about the function of the skin-specific version of the SMARCAD1 protein, but it appears to play a critical role in dermatoglyph formation. Dermatoglyphs develop before birth and remain the same throughout life. The activity of this protein is likely one of several factors that determine each person's unique fingerprint pattern.
The SMARCAD1 gene mutations that cause adermatoglyphia affect only the skin-specific version of the SMARCAD1 protein. These mutations reduce the total amount of this protein available in skin cells. Although it is unclear how these genetic changes cause adermatoglyphia, researchers speculate that a shortage of the skin-specific version of the SMARCAD1 protein impairs signaling pathways needed for normal skin development and function, including the formation of dermatoglyphs.
Read more about the SMARCAD1 gene.

How do people inherit adermatoglyphia?

Adermatoglyphia is inherited in an autosomal dominant pattern, which means one copy of the alteredSMARCAD1 gene in each cell is sufficient to cause the condition. In many cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of adermatoglyphia?

These resources address the diagnosis or management of adermatoglyphia and may include treatment providers.
You might also find information on the diagnosis or management of adermatoglyphia in Educational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about adermatoglyphia?

You may find the following resources about adermatoglyphia helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for adermatoglyphia?

  • absence of fingerprints
  • ADG
  • immigration delay disease
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about adermatoglyphia?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding adermatoglyphia?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (3 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook

04/29/2015 12:33 PM EDT

Source: National Library of Medicine - NIH
Related MedlinePlus Page: Skin Conditions

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