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obsolete anonychia congenita
ICD-10 Codes
Related ICD-10:
Description
Definition and Characteristics
Obsolete anonychia congenita refers to a rare, congenital condition characterized by the absence or malformation of fingernails and toenails [10]. This condition is often associated with autosomal recessive inheritance, meaning that it can be passed down from parents who are carriers of the mutated gene [14].
Key Features
- Absence or malformation of fingernails and toenails
- Typically inherited in an autosomal recessive pattern
- Rare disorder with limited information available
Comparison to Other Conditions
Anonychia congenita is distinct from other conditions that affect nail development, such as anonychia-onychodystrophy syndrome [12]. While both conditions involve abnormalities in nail formation, they have different genetic and phenotypic characteristics.
References
- [10] Mian A. (2017). Isolated, non-syndromic congenital anonychia: a rare condition with autosomal recessive inheritance.
- [14] Non syndromic Anonychia congenita or congenital absence of finger and toe nails is a rare disorder known to occur due to autosomal recessive inheritance of ...
- [12] Disease (4,860). Isolated congenital anonychia (2). Anonychia-onychodystrophy syndrome.
Additional Characteristics
- Absence or malformation of fingernails and toenails
- Typically inherited in an autosomal recessive pattern
- Rare disorder with limited information available
Signs and Symptoms
Based on the provided context, it appears that Anonychia Congenita is a rare nail disorder characterized by the complete absence or abnormally developed fingernails and toenails.
Common signs and symptoms:
- Complete absence (anonychia) or abnormally developed fingernails and toenails [9]
- Absence of nail folds, but small keratinized nail plates were present in middle toes bilaterally [4]
Other possible symptoms:
- Dry hair
- Severe hypodontia (congenital absence of teeth)
- Smooth tongue with marked reduction of papillae
- Skin, teeth, and hair may be normal [3]
- Thick, callus-like lesions on the palmar and plantar surfaces, which may become fissured and painful [6]
Note: The symptoms mentioned in [4] seem to be related to a different condition (Odontoonychodermal dysplasia), but it's worth noting that Anonychia Congenita can present with varying degrees of severity.
It's essential to consult medical professionals for an accurate diagnosis and treatment plan, as the provided context is limited to general information.
Additional Symptoms
- Complete absence (anonychia) or abnormally developed fingernails and toenails
- Absence of nail folds
- Dry hair
- Severe hypodontia (congenital absence of teeth)
- Smooth tongue with marked reduction of papillae
- Thick, callus-like lesions on the palmar and plantar surfaces
Diagnostic Tests
Diagnostic Tests for Anonychia Congenita
Anonychia congenita, a rare condition characterized by the absence or malformation of fingernails and toenails, can be diagnosed through a combination of physical examination and genetic testing.
- Physical Examination: A thorough physical examination is essential to confirm the presence of anonychia. The doctor will examine the nails for any abnormalities, such as their shape, size, and color.
- Genetic Testing: Genetic testing can help identify the underlying genetic mutations responsible for anonychia congenita. This test can be performed on a blood sample or tissue biopsy.
According to [source 9], "genetic testing can confirm mutations in genes associated with nail development." This not only aids in diagnosis but also provides valuable information for family planning and genetic counseling.
In cases where the condition is suspected, a combination of physical examination and genetic testing is often used to diagnose anonychia congenita. As stated in [source 10], "diagnosis often involves a combination of physical examination and genetic testing, aiming to identify the underlying genetic mutations."
Diagnostic Tests for Anonychia Congenita
- Genetic Testing: This test can confirm mutations in genes associated with nail development.
- Physical Examination: A thorough physical examination is essential to confirm the presence of anonychia.
Note: The diagnostic tests mentioned above are based on the information provided in the search results and may not be an exhaustive list.
Additional Diagnostic Tests
- Physical Examination
- Genetic Testing
Treatment
Based on the search results, it appears that there is limited information regarding the treatment of anonychia congenita, a rare condition affecting the fingernails and toenails.
According to search result [8], aggressive surgical treatment is generally not warranted for this condition. Instead, reassurance and support are important to help affected individuals adjust to living with this condition.
Search result [5] mentions that unfortunately, there is no medical or surgical treatment available for anonychia congenita, though artificial nails can be considered as a possible option.
It's worth noting that search result [2] suggests that treatment remains masterly inactivity or artificial nails, but it does not provide further details on the effectiveness of these options.
In summary, there is no established medical or surgical treatment for anonychia congenita, and management may involve reassurance, support, and possibly artificial nails. However, more research is needed to fully understand this condition and its treatment options.
- No established medical or surgical treatment available [5]
- Aggressive surgical treatment not warranted [8]
- Artificial nails can be considered as a possible option [2], [5]
Recommended Medications
- Limited
- Aggressive surgical treatment is generally not warranted
- Reassurance and support are important
- No medical or surgical treatment available
- Artificial nails can be considered
💊 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
Based on the provided context, it appears that differential diagnosis for anonychia congenita (a rare condition characterized by the absence or malformation of nails) involves considering various other conditions that may present similar symptoms.
- According to search result [2], differential diagnoses include onychophagia, nail lichen planus, nail psoriasis, onychomycosis, acute and chronic paronychia, 20-nail dystrophy, and others.
- Search result [5] also lists onychophagia, nail lichen planus, nail psoriasis, onychomycosis, acute and chronic paronychia, 20-nail dystrophy as differential diagnoses for anonychia congenita.
- Additionally, search result [9] mentions that the differential diagnosis may include onychomycosis, onychogryphosis, dyskeratosis congenita, focal palmoplantar keratoderma, and others.
It's essential to note that a comprehensive differential diagnosis for anony
Additional Differential Diagnoses
- onochophagia
- nail lichen planus
- nail psoriasis
- acute paronychia
- chronic paronychia
- 20-nail dystrophy
- onychogryphosis
- focal palmoplantar keratoderma
- obsolete onychomycosis
- dyskeratosis congenita
Additional Information
- core#notation
- DOID:0050643
- rdf-schema#label
- obsolete anonychia congenita
- relatedICD
- http://example.org/icd10/D68.8
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_680
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050643
- owl#deprecated
- true
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