Adermatoglyphia

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

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.

Causes and biological mechanisms

From: MedlinePlus Genetics, National Library of Medicine

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.

Inheritance and family implications

From: MedlinePlus Genetics, National Library of Medicine

Adermatoglyphia is inherited in an autosomal dominant pattern, which means one copy of the altered SMARCAD1 gene in each cell is sufficient to cause the condition. In many cases, an affected person has one parent with the condition.

How common is it?

From: MedlinePlus Genetics, National Library of Medicine

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

Understanding terms used in the source

These definitions explain medical words used above. A definition is not evidence that another condition is present, and it does not predict how a symptom will develop. Ask the clinician which terms apply to the actual examination or test result.

Affected

This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband).

Which doctor should you see?

The suggested department for discussing Adermatoglyphia is Clinical Genetics, with a clinical geneticist as the relevant type of clinician. Paediatrician (children) or physician (adults), with clinical geneticist referral.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Does the exact genetic or chromosome finding explain the observed features?
• Would a genetic counsellor help the family understand the result?
• Which organ-specific assessments are appropriate for this particular diagnosis?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Adermatoglyphia. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.