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CASE REPORT
Year : 2018  |  Volume : 19  |  Issue : 3  |  Page : 261-262

Pachyonychia congenita: Affecting three generations!


1 Department of Dermatology, Venereology and Leprosy, Maharishi Markandeshwar Institute of Medical Sciences and Research, Mullana, Ambala, India
2 Department of Dermatology, Venereology and Leprosy, School of Medical Sciences and Research, Sharda Hospital, Greater Noida, Uttar Pradesh, India
3 Department of Dermatology, Venereology and Leprosy, JSS Medical College and Hospital, JSS University, Mysore, Karnataka, India

Date of Web Publication28-Jun-2018

Correspondence Address:
Dr. Pihu Sethi
D-16, 2nd Floor, Chander Nagar, Ghaziabad - 201 011, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_11_17

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  Abstract 


Pachyonychia congenita is an autosomal dominantly inherited disease that primarily presents as nail dystrophy and dyskeratosis of skin and mucous membranes. A 32-year-old female presented with thickening of the nails and thickening of both heels. Her father showed pincer nails with periungual thickening of skin and fissures with focal plantar keratoderma. Her two sons had similar nail changes.

Keywords: Focal palmoplantar keratoderma, genetic disorder, nail dystrophy, pachyonychia congenita


How to cite this article:
Singla R, Sethi P, Savitha T G, Kanwar AJ. Pachyonychia congenita: Affecting three generations!. Indian J Paediatr Dermatol 2018;19:261-2

How to cite this URL:
Singla R, Sethi P, Savitha T G, Kanwar AJ. Pachyonychia congenita: Affecting three generations!. Indian J Paediatr Dermatol [serial online] 2018 [cited 2019 Oct 16];19:261-2. Available from: http://www.ijpd.in/text.asp?2018/19/3/261/206050




  Introduction Top


Pachyonychia congenita (PC), first described by Muller in 1904, is an autosomal dominantly inherited disease that primarily presents as nail dystrophy and dyskeratosis of skin and mucous membranes. The signs and symptoms of this condition usually become apparent within the first few months of life.[1] Only 450 cases have been reported in literature. Two types of PC have been described - Type 1 - Jadassohn–Lewandowsky and Type 2 - Jackson–Lawler type.[2] We are reporting Type 1 PC in three generations of a family.


  Case Report Top


A 32-year-old female presented with gradually progressing thickening of the nails since birth, pain, and thickening of both heels since the age of 2 years. She gave a history of recurrent paronychia. She had received prolonged antifungal and antibiotic therapy with no improvement. There was no itching, hyperhidrosis, blistering, natal teeth, or ocular symptoms. She was born to second degree consanguineous marriage. All 20 nails showed thickening and yellow-gray discoloration of nail plates; hypercurvature on the transverse axis of the nail plates giving a pinched shape to the nails. Subungual hyperkeratosis, onycholysis, and complete dystrophy were also noted in few nails [Figure 1]. Fingernails were more involved than toenails. KOH preparation was negative, and biopsy from heel was suggestive of keratoderma.
Figure 1: Pedigree chart and nail changes in patient and her father (original)

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Her father showed pincer nails with periungual thickening of skin and fissures with focal plantar keratoderma [Figure 2]. Her two sons had subungual hyperkeratosis which was more prominent in younger son. Elder son had a pilosebaceous cyst on the left forearm [Figure 3].
Figure 2: Focal plantar keratoderma in patient and her father (original)

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Figure 3: Pincer nails in patient's father, subungual hyperkeratosis, and pilosebaceous cyst in her son (original)

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  Discussion Top


Mutations in the KRT6A, KRT6B, KRT6C, KRT16, and KRT17 genes can cause PC.[3],[4],[5] PC type 1 is the more common variant, characterized by hypertrophic nail dystrophy (pachyonychia). It may be accompanied by painful paronychia, symmetric focal palmoplantar keratoderma (PPK), oral leukokeratosis, palmoplantar hyperhidrosis, follicular keratoses, and laryngeal involvement. PC Type 2 is characterized by almost all clinical features of PC Type 1 with natal or prenatal teeth, numerous steatocystomas, and other variety of cysts (epidermal inclusion cysts, pilosebaceous cysts, and vellus hair cysts) and PC Type 3 with corneal dyskeratosis.[2],[6] PC also has a fourth variant, known as PC tarda, in which symptoms develop in second to the third decade of life.[7] PC is often confused with Clouston's syndrome which presents with alopecia, diffuse PPK, deafness, and structural abnormalities such as syndactyly and polydactyly along with above-mentioned symptoms.[8] Alopecia could not be appreciated in our patient, PPK was localized to pressure points, and hearing was normal.

Radical excision of the nail, nail bed and nail matrix, and skin implantation at the site of the removed nail is the only known effective treatment. Topical emollients with salicylic acid or other keratolytic agents and systemic retinoids can be used for skin lesions.[7]

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Moger G, Shashikanth MC, Chandrashekar KT, Kurein S. Pachyonychia congenita tarda: A rare case report. Contemp Clin Dent 2013;4:409-11.  Back to cited text no. 1
[PUBMED]  [Full text]  
2.
Agarwal P, Chhaperwal MK, Singh A, Verma A, Nijhawan M, Singh K, et al. Pachyonychia congenita: A rare genodermatosis. Indian Dermatol Online J 2013;4:225-7.  Back to cited text no. 2
[PUBMED]  [Full text]  
3.
Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, et al. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol 2014;171:343-55.  Back to cited text no. 3
    
4.
Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, et al. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol 1998;139:475-80.  Back to cited text no. 4
[PUBMED]    
5.
Duarte GV, Cunha R. Do you know this syndrome? Pachyonychia congenita. An Bras Dermatol 2011;86:1222-7.  Back to cited text no. 5
    
6.
Feinstein A, Friedman J, Schewach-Millet M. Pachyonychia congenita. J Am Acad Dermatol 1988;19:705-11.  Back to cited text no. 6
[PUBMED]    
7.
Vaccaro M, Guarneri F, Barbuzza O, Guarneri C. Pachyonychia congenita tarda affecting only the nails. Dermatol Online J 2008;14:12.  Back to cited text no. 7
    
8.
van Steensel MA, Jonkman MF, van Geel M, Steijlen PM, McLean WH, Smith FJ. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 2003;121:1035-8.  Back to cited text no. 8
[PUBMED]    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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