• Journal of Oral Medicine and Pain
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• v.38 no.2
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• pp.103-108
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• 2013

Pachyonychia congenita is a very rare group of an autosomal dominant genodermatosis caused by heterozygous mutations in the keratin genes. The clinical findings affect nail and toenails, soles, and oral mucosa, etc. The main symptoms include nail and toenail dystrophy, hyperkeratosis of hands and feet, follicular hyperkeratosis, oral leukokeratosis. Many therapeutic modalities have been used to treat skin lesion, including surgical and mechanical procedures, chemical agents, medications. Oral lesions but not usually require treatment, if the patient's discomfort occurs, symptomatic therapy is performed. In the patients accompanied by oral and skin lesions, clinician have to observe specific manifestations with dystrophy of the fingernails and toenails, plantar hyperkeratosis, oral leukokeratosis and tissue biopsy is required for diagnosis confirmed.

• Archives of Plastic Surgery
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• v.50 no.6
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• pp.573-577
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• 2023

Pachyonychia congenita is a rare genetic disorder characterized by hypertrophic nail plates, hyperkeratotic nail beds, and thickened hyponychium of the fingers and toes, impairing manual dexterity and resulting in poor aesthetics. The current body of literature describes various treatment modalities, but no singular approach has been defined as the gold standard. In this case, the authors employed different surgical techniques for treating pachyonychia congenita to evaluate the most effective approach. A 3-year-old boy presented with hypertrophic nail growth involving all digits of both hands and feet. Three surgical procedures were performed on the patient's fingers and toes using germinal matrix excision (GME) alone, GME plus partial sterile matrix excision (pSME), or GME plus complete sterile matrix excision (cSME). The digits treated with GME + cSME exhibited no recurrence of nail growth. Those treated with GME alone exhibited recurrence of hypertrophic nail growth, although their growth slowed. Excision of GME + cSME prevented recurrence of hypertrophic nails, while GME alone or with pSME led to slower-growing hypertrophic nails. Complete excision of the germinal and sterile matrices with skin graft closure may be a definitive treatment for pachyonychia congenita, but further studies are needed to validate these findings.