pachyonychia congenita

Pachyonychia Congenita: A Rare Genetic Disorder

Pachyonychia congenita (PC) is a rare and debilitating genetic skin disorder that primarily affects the skin, nails, hair, and teeth. The condition is characterized by thickened skin on the palms and soles, thickened nails, and white patches in mucous membranes.

Symptoms of Pachyonychia Congenita

The symptoms of PC can vary widely among affected individuals, but common manifestations include:

• Thickened toenails [1]
• Plantar keratoderma (thickening of the skin on the soles) [2][8]
• Plantar pain that may be severe enough to require mobility aids such as wheelchairs, canes, crutches [8]
• White patches in mucous membranes, including the tongue and oral mucosa [4][5]

Genetic Basis of Pachyonychia Congenita

PC is caused by a mutation in one of five keratin genes, which are essential for skin and nail development. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder [7].

Impact on Daily Life

Pachyonychia congenita can have a significant impact on daily life, with many affected individuals experiencing chronic pain, discomfort, and disability. Early diagnosis and management are crucial to improving outcomes and reducing symptoms.

References:

[1] Apr 24, 2023 — Pachyonychia congenita is a condition that primarily affects the skin and nails. [2] Apr 1, 2021 — Pachyonychia Congenitas is a rare disorder causing thick nails & painful calluses on the bottoms of the feet & more. [4] Jun 7, 2020 — Pachyonychia congenita is characterised by thickened skin of the palms and soles, thickened nails, and white patches in mucous membranes. [5] A rare genetic skin disease predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and white plaques affecting tongue and oral mucosa. [7] by JL Hand · Cited by 2 — Pachyonychia congenita (PC) is a rare autosomal dominant disorder of keratinization affecting primarily the skin and nails. [8] Signs and symptoms · Thickened toenails · Plantar keratoderma · Plantar pain that may require some patients to use wheelchairs, canes, crutches, and pain ...

Pachyonychia Congenita: Common Signs and Symptoms

Pachyonychia congenita (PC) is a rare genetic disorder characterized by thickened skin, nails, and mucous membranes. The symptoms can vary in severity and may include:

• Thickened Nails: One of the most common signs of PC, thickened nails can be painful and may cause discomfort.
  • [2] Thickened nails are a hallmark symptom of PC, often accompanied by other skin and nail abnormalities.
  • [3] These mutations cause painful calluses, blisters, cysts, and yes, thickened nails.
• Painful Calluses: Blisters or calluses on the soles of the feet can be extremely painful and may cause discomfort when walking or standing.
  • [2] Painful plantar keratoderma - blisters and thick calluses on the soles of the feet causing extreme pain.
  • [4] Painless calluses are not a symptom of PC; only painful ones are associated with this condition.
• Cysts: Cysts can develop under or near the skin, often accompanied by other symptoms like blisters or thickened nails.
  • [8] In some affected individuals, blisters, bundles of blood vessels and nerves (neurovascular structures), or a deep itch may develop under or near the skin.
• Neonatal Teeth: Some babies born with PC may have teeth that erupt prematurely or are abnormally shaped.
  • [6] The first signs of the disease usually are thickened nails or neonatal teeth.

Other Symptoms

In addition to these common symptoms, some individuals with PC may experience:

• Painful Blisters: Blisters on the hands and feet can be painful and may cause discomfort.
  • [5] Painful plantar keratoderma - blisters and thick calluses on the soles of the feet causing extreme pain.
• Deep Itch: A deep itch under or near the skin can be a symptom of PC, often accompanied by other symptoms like cysts or blisters.
  • [8] In some affected individuals, blisters, bundles of blood vessels and nerves (neurovascular structures), or a deep itch may develop under or near the skin.

References

[1] Apr 24, 2023 — Some babies and children with pachyonychia congenita have pain in one or both ears when beginning to eat or drink. Pachyonychia congenita can ... [2] Apr 1, 2021 — What are the symptoms of pachyonychia congenita? · Painful calluses and blisters on the bottom of the feet. · Thickened nails. [3] These mutations cause painful calluses, blisters, cysts, and yes, thickened nails. ... Symptoms of PC. Most Common. Thickened Nails (hypertrophic nail dystrophy ... [4] The most common symptoms include thickened nails (pachyonychia), painful calluses on the soles of the feet (plant

Diagnosing Pachyonychia Congenita

Pachyonychia congenita (PC) can be diagnosed through a combination of clinical examination and genetic testing.

• Physical Examination: A thorough physical exam, including inspection of the skin and nails, is usually the first step in diagnosing PC. This may reveal characteristic signs such as thickened or ridged nails, palmoplantar keratoderma (thickening of the skin on the palms and soles), and dental abnormalities [1][2].
• Genetic Testing: Genetic testing can confirm a diagnosis of PC by identifying specific mutations in the genes associated with the condition. This type of testing is typically done through a saliva kit, which is provided free of charge through the International Pachyonychia Congenita Research Registry [4].

Types of Genetic Tests

• A 7-gene panel that includes assessment of non-coding variants may be ideal for patients with a clinical suspicion of PC [5]. This type of test can help identify specific mutations associated with the condition.

Confirming Diagnosis

Diagnosis is confirmed by molecular genetic testing, which can rule out other conditions and confirm the presence of PC. Differential diagnosis should also consider variants that may present similarly to PC [6].

Note: The effectiveness of a treatment depends on the severity of the specific problem, and there is currently no cure for pachyonychia congenita [7].

Pachyonychia congenita (PC) is a rare autosomal dominant disorder of keratinization, and its differential diagnosis can be challenging due to overlapping characteristics with other conditions. Here are some conditions that should be considered in the differential diagnosis for PC:

• Clouston syndrome: This is a rare genetic disorder characterized by nail dystrophy, palmoplantar keratoderma, and follicular hyperkeratosis.
• Epidermolysis bullosa simplex: A group of genetic disorders that cause skin blistering, which can be similar to the blisters seen in PC.
• Olmsted syndrome: A rare genetic disorder characterized by palmoplantar keratoderma, nail dystrophy, and other skin abnormalities.
• Tylosis: A rare genetic disorder characterized by thickening of the skin on the palms and soles, which can be similar to the palmoplantar keratoderma seen in PC.
• Striate palmoplantar keratoderma: A rare genetic disorder characterized by thickening of the skin on the palms and soles, with a characteristic striated pattern.
• Non-syndromic congenital nail disorders, such as recessive nail dysplasia: These are conditions that affect the nails alone, without any other systemic symptoms.

It's worth noting that a clinical diagnosis of PC can be difficult due to its overlapping characteristics with these conditions. Genetic testing is often necessary to confirm a diagnosis of PC and rule out other conditions with similar symptoms [3][5][10].

References:

[1] Context 11 [2] Context 13 [3] Context 4 [5] Context 5 [10] Context 10