nonsyndromic congenital nail disorder 3

Nonsyndromic Congenital Nail Disorder 3 (NDNC3)

Nonsyndromic congenital nail disorder 3, also known as NDNC3, is a rare genetic condition characterized by white discoloration of the nails. This condition can affect the nail plate, nail bed, or both, and may present as total involvement, partial involvement, transverse bands, or white spots.

Symptoms

• White appearance of the nails due to whitening of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia)
• Extremely thick nails (onychauxis) that separate from the underlying nail bed (onycholysis) and can appear claw-like
• Affected individuals may experience nail plate separation, leading to a white appearance of the nails

Causes

NDNC3 is caused by mutations in the PLCD1 gene on chromosome 3p22-p21.3. This genetic mutation leads to the development of white discoloration of the nails.

References

• [1] OMIM: 151600 - Definition of NDNC3
• [2] Brice G, Hasan A, Burnand K, Vernon S, Mansour S, Mortimer P, Jeffery S, Child A, Sarfarazi M Eur J Hum Genet 2008 Mar;16(3):300-4. Epub 2008 Jan 16 doi: 10.1038/sj.ejhg.5201966
• [3] MONDO - Nonsyndromic congenital nail disorder 3

Nonsyndromic Congenital Nail Disorder 3 (NDNC3) Signs and Symptoms

Individuals with NDNC3 may exhibit the following signs and symptoms:

• White appearance of the nails: This can be due to various factors such as whitening of the nail plate, the nail bed, or neither [3].
• Nail dysplasia: Characterized by excessive longitudinal striations and loss of nail luster, often beginning in early childhood [8].
• Claw-shaped, hyperpigmented nails: Some individuals may have claw-shaped nails with subungual hyperkeratosis [9].
• Thick nails (onychauxis): Affected individuals may have extremely thick nails that separate from the underlying nail bed (onycholysis) and can appear claw-like [1][6].

It's worth noting that NDNC3 is a rare condition, and not all individuals with this disorder will exhibit all of these signs and symptoms. The severity and presentation of the condition can vary widely among affected individuals.

References: [1] Context result 1 [3] Context result 3 [6] Context result 6 [8] Context result 8 [9] Context result 9

Based on the provided context, it appears that nonsyndromic congenital nail disorder 10 (also known as onychauxis) is a condition characterized by extremely thick nails.

Diagnostic Tests:

• A clinical genetic test offered by CEN4GEN Institute for Genomics and Molecular Diagnostics can be used to diagnose this condition [1]. This test is appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of nonsyndromic congenital nail disorder 10.
• Next-generation sequencing (NGS) tests are also available for diagnosing this condition. These tests can identify the underlying genetic mutations that cause the condition [4].
• In addition to these genetic tests, a physical examination and medical history can help confirm the diagnosis of nonsyndromic congenital nail disorder 10.

Key Points:

• Extremely thick nails (onychauxis) are a characteristic feature of nonsyndromic congenital nail disorder 10 [2].
• A clinical genetic test or NGS test can be used to diagnose this condition.
• Physical examination and medical history can also help confirm the diagnosis.

References: [1] CEN4GEN Institute for Genomics and Molecular Diagnostics [2] OMIM:151600 [4] Prenalytics: 5 mL whole blood or DNA sample. Room temperature, 24 hours prior to testing.

Based on the provided context, it appears that there are some available treatment options for nonsyndromic congenital nail disorder 3 (NDNC3).

• According to search result [4], Terbinafine is listed as a drug for treating NDNC3.
• Search result [12] mentions clinical resources and genetic tests related to NDNC3, but does not specifically mention treatment options.

However, it's worth noting that the context also mentions that NDNC3 is caused by mutations in the PLCD1 gene (search result [2]), which may imply that the condition is primarily genetic in nature. As such, treatment options might be limited or focused on managing symptoms rather than curing the underlying condition.

It's also mentioned in search result [10] that congenital and hereditary nail diseases are a heterogeneous group of rare disorders, and most cases present at birth, although some heritable changes present later in childhood. This suggests that NDNC3 may not have a specific or well-established treatment protocol.

Therefore, while there might be some available treatment options for nonsyndromic congenital nail disorder 3, such as Terbinafine, it's essential to consult with a medical professional for personalized advice and guidance.

References: [2], [4], [10]

Differential Diagnosis of Nonsyndromic Congenital Nail Disorder 3

Nonsyndromic congenital nail disorder 3 is a condition characterized by a white appearance of the nails, which can be due to various factors such as true leukonychia (whitening of the nail plate), pseudoleukonychia (whitening of the nail bed), or apparent leukonychia (neither true nor pseudoleukonychia) [3].

Possible Causes:

• Hereditary leukonychia, a rare cause of whitening of the nail plate [4]
• Other ectodermal dysplasias, which can involve changes in nail color, texture, and/or shape [6]

Differential Diagnosis Considerations:

When considering the differential diagnosis for nonsyndromic congenital nail disorder 3, it is essential to rule out other conditions that may present with similar symptoms. These include:

• Anonychia/hyponychia, a condition characterized by the absence or underdevelopment of nails [7]
• Congenital malalignment of the great toenail, which can cause white or discolored nails [7]

Genetic Considerations:

In some cases, nonsyndromic congenital nail disorder 3 may be inherited in an autosomal recessive manner, which means that a person must inherit two copies of the mutated gene (one from each parent) to express the condition. This form of the disorder is characterized by thick nails, hyponychia, and onycholysis without other ectodermal anomalies [9].

References:

[3] Context 3 [4] Context 4 [6] Context 6 [7] Context 7 [9] Context 9