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Pachyonychia Congenita in a Toddler

Mandelbaum, Max BS*; Chao, Jerry W. MD*†; Rogers, Gary F. MD*†

Plastic and Reconstructive Surgery – Global Open: May 2017 - Volume 5 - Issue 5 - p e1325
doi: 10.1097/GOX.0000000000001325
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Open
United States

From the *Division of Plastic and Reconstructive Surgery, The George Washington University School of Medicine and Health Sciences, Washington, D.C.; and Division of Plastic and Reconstructive Surgery, Children’s National Medical Center, Washington, D.C.

Disclosure: The authors have no financial interest to declare in relation to the content of this article. The Article Processing Charge was paid for by Division of Plastic and Reconstructive Surgery at Children’s National Medical Center.

Jerry W. Chao, MD, Children’s National Medical Center, The George Washington University School of Medicine and Health Sciences, 111 Michigan Avenue NW, Washington, DC 20010, E-mail: jwchao@mfa.gwu.edu

This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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Dear Sir:

We report management of a 3-year-old boy with genetically confirmed pachyonychia congenita (PC), a rare (prevalence, 1:5,000–10,000) autosomal dominant genetic disorder characterized by excessive keratinization of the glabrous skin of the hands and feet and nail thickening that can mimic onychomycosis.1 Our patient was referred for treatment of painful, debilitating thickenings on the palms and selected nail beds of both hands and feet that has severely limited his ability to ambulate (Fig. 1). Prior temporizing measures, including sanding of the lesions, were ineffective in functional improvement.

Fig. 1.

Fig. 1.

PC is caused by autosomal dominant mutations in selected keratin genes, has 2 principle subtypes: PC type 1 (Jadassohn-Lewandowski syndrome, KRT6A, and KRT16 genes) and PC type 2 (Jackson-Lawler syndrome, KRT6B, and KRT17 genes).2 Approximately 50% of PC cases are inherited. All subtypes of PC manifest with hypertrophic nail dystrophy, and focal, painful palmoplantar keratoderma, but other clinical symptoms can include palmoplantar blistering, oral leukokeratosis, follicular keratosis on the trunk and extremities, dystrophic toenails and fingernails, pilosebaceous cysts, palmoplantar hyperhidrosis, hoarseness, pili torti, and natal teeth.2

Treatment alternatives for painful hyperkeratoses have met with limited success due to short-term mitigation and high recurrence rates. Conservative measures include limiting friction and trauma to feet by minimizing walking or standing, though compliance in young children limits feasibility. Reducing hydration of the epidermis with wicking socks and ventilated footwear may help. Mechanical treatments such as filing, grinding, cutting, and clipping of affected nails are somewhat effective in reducing symptoms in mild cases.1

Reports of surgical management are sparse in the literature. Electrofulguration, deep curettage, and radical excision with autologous reconstruction have met with variable success due to recurrence and significant associated morbidity with more radical techniques.3–5 The most common pharmacological management employs retinoid agents that may cause thinning of the epidermis with subsequent painful blistering and secondary infections.1,2 Current medical research is examining the possible role of using mutation-specific small interfering RNA, rapamycin, anti-tumor necrosis factor biologics, and botulism toxins as treatment to reduce keratinization and patient symptoms.1,2

Our patient underwent blunt debridement of the affected skin and nails along a natural plane of dissection in the deep dermal layer (Fig. 2). This strategy was chosen by the parents, despite the risk of recurrence, to limit the morbidity of the procedure and shorten the recovery. The patient was discharged home with local wound care and healed uneventfully by 7 days. At 6-month follow-up, the toddler ambulates with minimal discomfort, and there is only minor thickening of the plantar and palmar skin.

Fig. 2.

Fig. 2.

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REFERENCES

1. Goldberg I, Fruchter D, Meilick A, et al. Best treatment practices for pachyonychia congenita. J Eur Acad Dermatol Venereol. 2014;28:279–285.
2. Smith FJD, Hansen CD, Hull PR, et al. Pagon RA. Pachyonychia congenita. In: Gene Reviews. 1993–2017.Seattle, Wash.: University of Washington.
3. Milstone LM, Fleckman P, Leachman SA, et al. Treatment of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005;10:18–20.
4. White RR 4th, Noone RB. Pachyonychia congenita (Jadassohn-Lewandowski syndrome: case report. Plast Reconstr Surg. 1977;59:855–858.
5. Cosman B, Symonds FC Jr, Crikelair GF. Plastic surgery in pachyonychia congenita and other dyskeratoses. Case report and review of the literature. Plast Reconstr Surg. 1964;33:226–236.
Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of The American Society of Plastic Surgeons.