Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes

Wu, Albert G.; Lipner, Shari R.

doi:10.1159/000513340

Cited by 5 publications

(3 citation statements)

References 61 publications

(69 reference statements)

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“…Pachyonychia congenita (PC) is an autosomal dominant genetic disorder characterized by hypertrophic nail plates, hyperkeratotic nail beds, and thickened hyponychium of the fingers and toes. 1 The distal two-thirds of the nail plates become thickened, elevated, and transversely arched due to hyperkeratosis of the nail bed. The thickened portion often becomes discolored, resulting in yellow or brown nails.…”

Section: Introductionmentioning

confidence: 99%

“…Management is often determined by both type and severity of the keratin genetic mutation. 1 Because of this, the importance of genetic testing prior to treatment cannot be understated.…”

Section: Introductionmentioning

confidence: 99%

“… 2 3 Many treatments for PC focus on pain management with Botox injection and sirolimus, which has shown some efficacy in managing symptoms. 1 4 We present our experience and results of treating a pediatric patient with a combination of germinal matrix excision (GME) alone, GME with partial sterile matrix excision (pSME), and GME with complete sterile matrix excision (cSME).…”

Section: Introductionmentioning

confidence: 99%

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Surgical Management of Pachyonychia Congenita in a 3-Year-Old

Sudduth,

Clinker,

Holdaway

et al. 2023

Arch Plast Surg

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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.

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Section: Introductionmentioning

confidence: 99%

“…Management is often determined by both type and severity of the keratin genetic mutation. 1 Because of this, the importance of genetic testing prior to treatment cannot be understated.…”

Section: Introductionmentioning

confidence: 99%