Causes of Pachyonychia Congenita
Pachyonychia congenita is a rare genetic disorder caused by mutations in certain keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). These mutations cause the body to produce less keratin, a crucial protein for skin, hair, and nails.
Symptoms of Pachyonychia Congenita
Symptoms of pachyonychia congenita include:
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A thickening and discoloration of the nails that is abnormal.
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Thickened skin on the soles of the feet that causes pain when walking.
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The development of cysts, especially around hair follicles.
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White patches or thickened areas in the mouth are oral lesions.
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Hands and feet sweat excessively due to hyperhidrosis.
Diagnosis of Pachyonychia Congenita
Diagnosis involves:
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Skin, nails, and other symptoms are examined during a clinical evaluation.
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Genetic analysis of family history.
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Identifying specific keratin gene mutations through DNA analysis.
Treatment of Pachyonychia Congenita
Treatment focuses on managing symptoms rather than finding a cure:
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Callus-related pain can be managed with pain relievers.
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Use moisturizing creams and trim calluses regularly.
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Proper nail hygiene and management of thickened nails are important aspects of nail care.
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If necessary, cysts can be surgically removed.
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Skin thickness can be reduced by using keratolytics as a topical treatment.
Prevention of Pachyonychia Congenita
The symptoms of pachyonychia congenita cannot be prevented. However, you can manage them and minimize discomfort by:
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Foot care: Consistent care and protection of feet to prevent calluses.
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To keep skin hydrated, use emollients frequently.
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To alleviate foot pain, wear soft, well-cushioned shoes.
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Identifying and avoiding triggers: Avoiding activities that exacerbate symptoms.
Individuals with pachyonychia congenita can significantly improve their quality of life with early diagnosis and tailored management.
