You have 2 free disease views remaining today. Register for more view, it is 100% free โ
adermatoglyphia
Description
Signs and Symptoms
Adermatoglyphia, also known as loss of fingerprints attributed to a medical cause, is a rare genetic condition that affects the skin's ridges and furrows.
Key Signs and Symptoms:
- Lack of skin ridges: Adermatoglyphia is characterized by the absence or reduction of skin ridges on the fingertips, palms, and soles [2][5].
- Reduced sweating: People with this condition often have reduced transpiration on their palms and soles, which can be attributed to a lower number of sweat gland openings [3].
- Dry skin: Some individuals may experience dry skin due to the lack of sweat glands, leading to blisters or milia (small white bumps) on the face and other areas exposed to heat or friction [1][7].
- Congenital symptoms: In some cases, adermatoglyphia can be present at birth, accompanied by facial milia and blisters [8].
Other Possible Symptoms:
- Absence of skin ridges on other parts of the body
- Reduced sweating in areas other than palms and soles
It's essential to note that adermatoglyphia is a rare condition, and not everyone with this condition will exhibit all of these symptoms. If you suspect you or someone else may have adermatoglyphia, consult a medical professional for proper diagnosis and guidance.
References: [1] Apr 1, 2015 [2] Adermatoglyphia is a rare condition that is characterized by the lack of ridges on the skin of the fingers, toes, palms of the hand and soles of the feet. [3] It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. ORPHA:289465. Classification level: Disorder. [5] Apr 2, 2024 โ Adermatoglyphia is a very rare genetic condition that causes a lack of ridges in the fingertips, palms, and soles. [7] Dec 25, 2020 โ ... Adermatoglyphia - a version of the disease which can also cause dry skin and reduced sweating on palms and feet - symptoms reported by the ... [8] Presentation. People with this disorder often have congenital adermatoglyphia, facial milia and blisters soon after birth, hypohidrosis (less sweating than ...
Additional Symptoms
- Dry skin
- Reduced sweating
- Lack of skin ridges
- Congenital symptoms
Diagnostic Tests
Adermatoglyphia, also known as the absence of fingerprints, can be diagnosed through various tests.
- Physical examination: A physical examination is typically the first step in diagnosing adermatoglyphia. This involves checking for the absence of fingerprints on the fingertips, palms, and soles of the feet [4].
- Genetic testing: Genetic testing is also used to diagnose adermatoglyphia. This can involve a buccal swab, cell culture, cord blood, fetal blood, fibroblasts, fresh tissue, frozen tissue, isolated DNA, or other methods [2]. Full gene sequencing may be required in some cases [14].
- Molecular genetic analysis: In some cases, molecular genetic analysis may be necessary to confirm the diagnosis of adermatoglyphia. This can be challenging to access in certain parts of the world [7].
It's worth noting that a diagnosis of adermatoglyphia is typically made through a combination of physical examination and genetic testing.
References:
[2] - A list of various methods for genetic testing, including buccal swab. [4] - A description of the physical examination process for diagnosing adermatoglyphia. [7] - A statement about the challenges faced in accessing molecular genetic analysis in certain parts of the world. [14] - A mention of full gene sequencing as a diagnostic method.
Additional Diagnostic Tests
- Genetic testing
- Physical examination
- Molecular genetic analysis
Treatment
Based on the search results, it appears that there is no specific treatment for adermatoglyphia itself, as it is a benign condition and does not cause any physical discomfort.
- According to result 4, "Adermatoglyphia does not cause any physical discomfort, so any specific treatment is not required."
- Result 10 also mentions that "This condition, first identified in 2007 by Eli Sprecher, affects the development of the skin-specific ridges on the palms and soles of affected individuals, but it is an extremely rare genetic disorder characterized by the absence of fingerprints."
However, if any associated symptoms or conditions are present, treatment may be provided to manage those specific issues.
- Result 3 mentions that "In a majority of cases, no treatment is necessary, unless any associated symptoms are noted; Undertaking treatment of the associated condition, if any noted, is important;"
- Result 9 also discusses that "Patients of reversible and treatable causes were treated with moisturizers or topical steroids for 6 to 8 weeks."
It's worth noting that adermatoglyphia is a genetic disorder, and as such, there is no cure for the condition itself.
- According to result 5, "Adermatoglyphia may not be preventable since it is a genetic disorder."
- Result 14 also mentions that "It is associated with a reduced number of sweat gland openings and reduced... manifestations."
In summary, while there is no specific treatment for adermatoglyphia itself, any associated symptoms or conditions can be treated to manage those specific issues.
Citations: [4] [3] [9]
Recommended Medications
- No specific treatment
- Treatment may be provided to manage associated symptoms or conditions
- Moisturizers or topical steroids for 6-8 weeks
๐ Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Adermatoglyphia, also known as loss of fingerprints, can be challenging to diagnose due to its rarity and varying presentations. Here are some conditions that may be considered in the differential diagnosis of adermatoglyphia:
- Isolated adermatoglyphia: This is a rare, genetic developmental defect characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints [13][15].
- Dyschromatosis universalis hereditaria (DUH): This is a rare genetic disorder that can be associated with adermatoglyphia. It is characterized by hyper- or hypopigmentation of the skin, and may also involve other organs [10][11].
- Peeling skin syndrome: This is a rare genetic disorder that can cause peeling of the skin on the palms and soles, which may be associated with adermatoglyphia [6].
- Keratoderma: This is a group of rare genetic disorders that affect the skin, causing thickening or hardening of the skin on the palms and soles. It can be associated with adermatoglyphia [6].
It's worth noting that the diagnosis of adermatoglyphia often requires molecular genetic analysis, which may not be readily available in all regions. A thorough physical examination and medical history are essential to rule out other conditions that may present similarly.
References:
[6] by S Batool ยท 2022 ยท Cited by 1 โ We too noted many genetic diseases causing adermatoglyphia like peeling skin syndrome (Figure 2) and keratoderma (Figure 3).
[10] A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association | Dyschromatosis universalis hereditaria ...
[11] Download Table | Differential diagnoses of DUH from publication: A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association | Dyschromatosis universalis hereditaria ...
[13] Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.
[15] Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0111357
- core#notation
- DOID:0111357
- oboInOwl#hasDbXref
- ORDO:289465
- IAO_0000115
- A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3.
- oboInOwl#hasExactSynonym
- Isolated congenital adermatoglyphia
- rdf-schema#label
- adermatoglyphia
- rdf-schema#subClassOf
- t379835
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_5678
- owl#annotatedSource
- t379909
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.