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Table of Contents 
CASE REPORT
Year : 2016  |  Volume : 61  |  Issue : 2  |  Page : 196-199
Pachyonychia congenita Type 1: Case report and review of the literature


1 Department of Dermatology, Rohilkhand Medical College and Hospital, Bareilly, Uttar Pradesh, India
2 Department of Dermatology, KPC Medical College and Hospital, Kolkata, West Bengal, India

Date of Web Publication1-Mar-2016

Correspondence Address:
Anupam Das
“Prerana” 19, Phoolbagan, Kolkata - 700 086, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.177761

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   Abstract 

The case of an 8-year-old boy is hereby reported, who presented with nail dystrophy, subungual hyperkeratosis, oral leukokeratosis, and numerous follicular papules all over the body. The features were consistent with a diagnosis of pachyonychia congenita type 1. The case is being reported for its rarity. We also discuss in a nutshell, the literature till date.


Keywords: Follicular papules, leukokeratosis, nail dystrophy, subungual hyperkeratosis


How to cite this article:
Rathore PK, Khullar V, Das A. Pachyonychia congenita Type 1: Case report and review of the literature. Indian J Dermatol 2016;61:196-9

How to cite this URL:
Rathore PK, Khullar V, Das A. Pachyonychia congenita Type 1: Case report and review of the literature. Indian J Dermatol [serial online] 2016 [cited 2019 Oct 20];61:196-9. Available from: http://www.e-ijd.org/text.asp?2016/61/2/196/177761

What was known?
Pachyonychia congenita is a rare genodermatosis with a wide array of cutaneous manifestations including nail dystrophy, subungual hyperkeratosis, follicular papules, oral leukokeratosis, palmoplantar keratoderma, etc.



   Introduction Top


Pachyonychia congenita (PC) is a rare autosomal dominant disorder of keratinization.[1] It was first documented by Muller in 1904[2] followed by Jadassohn and Lewandowsky in 1906.[3] It is classified into four types, of which the two important ones include type-1 (Jadassohn–Lewandowsky type) and type-2 (Jackson–Lawler type). These are characterized by subungual hyperkeratosis, focal palmoplantar keratoderma, oral leukokeratosis, which are usually present since birth.[4]


   Case Report Top


An 8-year-old boy born of nonconsanguineous parentage, with normal developmental milestones for his age; presented with nail defects since birth along with numerous elevated skin lesions. Family history was unremarkable. Cutaneous examination revealed dystrophic, discolored, and thickened fingernails and toenails, along with massive subungual hyperkeratosis producing a distal elevation of nail plates and wedge-shaped deformity of the nails. This resulted in the upward growth of the distal edge of the nail plates, accompanied by angulation of the lateral border [Figure 1],[Figure 2],[Figure 3]. Besides, there were numerous pin-head sized follicular papules over the entire body, concentrated over the face, back, buttocks, abdomen, and gluteal region [Figure 4],[Figure 5],[Figure 6]. Besides, hyperkeratotic lesions were distributed throughout the body. Marked hyperhidrosis of the palms and soles was observed. Palmoplantar keratoderma was present, along with painful hyperkeratotic plaques [Figure 7] and [Figure 8]. Mucosal examination was significant for the presence of asymptomatic oral leukokeratosis over the dorsum of the tongue [Figure 9]. Routine laboratory investigations including complete hemogram, hepatic profile, and renal profile were within normal limits. KOH microscopy and culture of nail clippings was negative. Skin biopsy from a hyperkeratotic lesion around elbow showed orthokeratosis and acanthosis [Figure 10]. No evidence of any malignancy was found during the thorough work up. Genetic and molecular biological studies could not be carried out due to lack of infrastructure facilities. Based on the above findings, he was diagnosed as pachonychia congenita type 1. The child was prescribed Vitamin A and E along with emolients and keratolytics. He was prescribed oral Vitamin A at a dose of 25,000 IU, under a multidisciplinary approach after consultation with Department of Pediatrics and Ophthalmology. The patient is under stringent follow-up every 2 weeks. He has been referred to the Department of Physical medicine and rehabilitation for weight control exercises.
Figure 1: Dystrophic finger nails with subungual hyperkeratosis

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Figure 2: Close-up picture of nails showing massive subungual hyperkeratosis

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Figure 3: Dystrophic toe nails with wedge-shaped deformity

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Figure 4: Numerous pin-head sized follicular papules over the body (anterior view)

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Figure 5: Numerous pin-head sized follicular papules over the body (posterior view)

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Figure 6: Follicular papules distributed over the nose and perioral regions

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Figure 7: Hyperkeratotic papules over the palms

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Figure 8: Note the massive plantar keratoderma

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Figure 9: Dorsum of the tongue showing leukokeratosis

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Figure 10: Photomicrograph of a hyperkeratotic plaque showing massive orthokeratosis and acanthosis (H and E, ×100)

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   Discussion Top


PC is a rare genodermatosis with autosomal dominant mode of inheritance. Heterozygous mutations involving keratins K6a or K16 are associated with PC-1 whereas those involving K6B and K17 are associated with PC-2.[5] Although, autosomal dominant mode is the most common mode of inheritance, there are reports of autosomal recessive inheritance as well.[6]

PC has been classified into four types, the common clinical findings in all of them being painful and debilitating plantar keratodermas, nail dystrophy and hypertrophy, oral leukokeratosis, palmoplantar hyperhidrosis, and a variety of epidermal cysts.[7]

Patients with type 1 PC (Jadassohn–Lewandowsky syndrome) are characterized by the presence of nail dystrophy since birth. This may be accompanied with painful paronychia, hyperkeratosis of palms and soles over the pressure sites, oral leukokeratosis, palmoplantar hyperhidrosis, and follicular keratotic papules distributed throughout the body.[7],[8] Besides, painful blisters also develop over the palms and soles. Another characteristic finding is the presence of verrucous lesions over the elbows, knees, popliteal fossae, and ankles. In addition, hoarseness of voice is also an important feature of PC type 1.[9],[10]

In addition to the above mentioned findings, type 2 PC (Jackson–Lawler syndrome) has the features of natal teeth, hair anomalies including pili torti, unruly hair, and bushy eyebrows. Oral leukokeratosis and palmoplantar keratoderma is milder in comparison to type 1 PC, but the development of epidermal cysts or steatocysts are the hallmark findings in type 2 PC. PC type 3 (Schafer–Branuer) has features of corneal leukokeratosis.

Type 4 PC is termed as PC tarda, which is manifested in the second or third decade of life. It results from mutations in the keratins 16 and 17 genes.[11]

PC with unusual features has been noted. Rare cases of pachyonychia congenita tarda have been reported with symptoms developing in the fifth decade of life.[12] Recently, a case of pachyonychia congenita associated with B-cell lymphoma has been reported.[13] Cases with unusual dental findings have also been reported.[14] An interesting case of PC with wooly hair in a 10 month old patient has been also reported.[15] Cases with isolated involvement of nails have also been described.[16] Apart from the numerous oral manifestations, median rhomboid glossitis in association with PC has been documented.[17]

The clinical features in our case are suggestive of PC type 1 with characteristic subungual hyperkeratosis and follicular papules over the entire body since birth. Histological findings of orthokeratotic hyperkeratosis and acanthosis confirm our diagnosis. The patient was prescribed Vitamin A and E along with emollients and keratolytics. Mahajan et al. reported a case of PC, which was treated with oral Vitamin A and E.[18] Vitamin A stimulates differentiation and leads to normalization of accelerated epidermopoiesis of pathological keratinocytes of epidermis of skin and nail. With this background, we have prescribed Vitamin A to our patient. The upper limit of dose of Vitamin A in pediatric patients (1–8 years) is 17,500–35,000 IU. Hypervitaminosis A occurs when the consumption is more than or equal to 100,000 IU for months. Our patient was referred to Department of Pediatrics and Ophthalmology. Thereafter, he was prescribed Vitamin A at a dose of 25,000 IU. The patient is under stringent follow-up every 2 weeks, for systemic check-up including fundoscopy and signs of irritability. For management of pain and discomfort due to the palmoplantar keratoderma, patient was advised limitation of walking and standing, use of soft shoes, control of body weight, and use of appropriate clothing. The patient is under periodic follow-up. Mechanism of manipulating gene expression is now possible which in future, may help to suppress or correct the genetic defect in the chromosomes. The only effective treatment though is nail surgery with radical excision of the nail bed and matrix and grafting at the site but patient being very young, this line of treatment was not accepted by the parents.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Strober BE. Pachyonychia congenita, type II. Dermatol Online J 2003;9:12.  Back to cited text no. 1
    
2.
Muller C. On the causes of congenital onychogryphosis. Mcn Med Wochenschr 1904;49:2180-2.  Back to cited text no. 2
    
3.
Jadassohn J, Lewandowsky F. Jacob's Ikonographia Dermatologica. 1st ed. Berlin: Urban und Schwarzenberg. Pachyonychia congenita. Keratosis disseminata circumscripta (follicularis). Tylomata. Leukokeratosis linguae; 1906. p. 29-31.  Back to cited text no. 3
    
4.
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. 4
[PUBMED]  Medknow Journal  
5.
McLean WH, Hansen CD, Eliason MJ, Smith FJ. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol 2011;131:1015-7.  Back to cited text no. 5
    
6.
Haber RM, Rose TH. Autosomal recessive pachyonychia congenita. Arch Dermatol 1986;122:919-23.  Back to cited text no. 6
[PUBMED]    
7.
Jayanthi P, Ranganathan K. Differential diagnosis of white lesions of oral mucosa. J Orofac Sci 2010;2:58-63.  Back to cited text no. 7
  Medknow Journal  
8.
da Silva Santos PS, Mannarino F, Lellis RF, Osório LH. Oral manifestations of pachyonychia congenita. Dermatol Online J 2010;16:3.  Back to cited text no. 8
    
9.
Munro CS. Pachyonychia congenita: Mutations and clinical presentations. Br J Dermatol 2001;144:929-30.  Back to cited text no. 9
[PUBMED]    
10.
Handa S, Kumar B. Pachyonychia congenita type 1. Indian J Dermatol Venereol Leprol 1994;60:228-9.  Back to cited text no. 10
    
11.
Mouaci-Midoun N, Cambiaghi S, Abimelec P. Pachyonychia congenita tarda. J Am Acad Dermatol 1996;35(2 Pt 2):334-5.  Back to cited text no. 11
    
12.
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. 12
[PUBMED]  Medknow Journal  
13.
dos Santos VM, Loures TP, Rego JD, Teixeira CA, de Carvalho KD, Nascimento AL. A case with pachyonychia congenita and B-cell lymphoma. Acta Med Iran 2014;52:578-81.  Back to cited text no. 13
    
14.
Pradeep AR, Nagaraja C. Pachyonychia congenita with unusual dental findings: A case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007;104:89-93.  Back to cited text no. 14
    
15.
Ehsani A, Moeineddin F, Rajaee A. Pachyonychia congenita with woolly hair in a ten month old infant. Indian J Dermatol Venereol Leprol 2008;74:485-6.  Back to cited text no. 15
[PUBMED]  Medknow Journal  
16.
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. 16
    
17.
Karen JK, Schaffer JV. Pachyonychia congenita associated with median rhomboid glossitis. Dermatol Online J 2007;13:21.  Back to cited text no. 17
    
18.
Mahajan BB, Pall A, Garg G, Gupta RR. Pachyonychia congenita-like nail changes treated successfully with a combination of Vitamins A and E: A case report. Indian J Dermatol Venereol Leprol 2003;69:338-9.  Back to cited text no. 18
[PUBMED]  Medknow Journal  

What is new?
Full blown cases of pachyonychia congenita are rarely found and our case is unique because it features all the classical manifestations of this rare disease. Very few cases have been reported from India.


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]



 

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