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Review

Pachyonychia Congenita

Frances JD Smith  1 , C David Hansen  2 , Peter R Hull  3 , Roger L Kaspar  4 , WH Irwin McLean  5 , Edel O’Toole  6 , Eli Sprecher  7
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
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Review

Pachyonychia Congenita

Frances JD Smith et al.
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Excerpt

Clinical characteristics: Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.

Diagnosis/testing: PC is diagnosed by clinical findings and/or by the identification of a heterozygous pathogenic variant in one of the five keratin genes known to cause PC: KRT6A, KRT6B, KRT6C, KRT16, and KRT17.

Management: Treatment of manifestations: Pain from the palmoplantar keratoderma may be reduced somewhat by limiting friction and trauma to the feet by minimizing walking or standing, reducing hydration of the stratum corneum by using wicking socks and ventilated footwear, selecting comfortable shoes, and maintaining ideal body weight. Foot care includes paring down of hyperkeratotic areas and topical therapies for hyperkeratosis (emollients and lotions containing keratolyics). Care of thickened nails often requires the use of surgical or razor blades or sanders such as a Dremel® tool. Troublesome nails removed surgically frequently grow back in some form. Good oral hygiene and brushing gently with a soft toothbrush can improve thick, white patches on the tongue and oral mucosa. Secondary fungal and bacterial infections that require treatment are common; cysts usually do not require treatment but can be incised and drained if infected or painful. Bottle-fed infants with leukokeratosis may need a soft nipple with an enlarged opening. Rarely, young children with laryngeal thickening/growths need emergency surgery to reestablish the airway; however, surgery may exacerbate the condition.

Prevention of secondary complications: Attention to pre- and post-grooming hygiene to prevent infection; a "bleach bath" regimen using a mild bleach solution can help prevent infections.

Agents/circumstances to avoid: High temperatures and high humidity may worsen the condition.

Genetic counseling: Pachyonychia congenita is inherited in an autosomal dominant manner. Approximately 30% of cases appear to be caused by a de novo pathogenic variant. A single case of germline mosaicism has been reported. The offspring of an affected individual have a 50% chance of inheriting the disorder. If the pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk is possible.

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References

    1. Covello SP, Smith FJD, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WHI. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol. 1998;139:475–80. - PubMed
    1. DeKlotz CMC, Schwartz ME, Milstone LM. Nail removal in pachyonychia congenita: patient-reported survey outcomes. J Am Acad Dermatol. 2017;76:990–2. - PubMed
    1. Duchatelet S, Guibbal L, de Veer S, Fraitag S, Nitschké P, Zarhrate M, Bodemer C, Hovnanian A. Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations. Br J Dermatol. 2014;171:675–8. - PubMed
    1. Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol. 2012;67:680–6. - PubMed
    1. Feng YG, Xiao SX, Ren XR, Wang WQ, Liu A, Pan M. Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts. Br J Dermatol. 2003;148:452–5. - PubMed