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CASE REPORT
Year : 2014  |  Volume : 15  |  Issue : 3  |  Page : 137-139

Pachyonychia congenita type-1 (Jadassohn-Lewandowsky syndrome)


Department of Dermatology, Dr. Panjabrao Deshmukh Memorial Medical College, Amravati, Maharashtra, India

Date of Web Publication30-Oct-2014

Correspondence Address:
Subodh D Jane
"Padma Smruti" Rukhmini Nagar, Main Road, Near Bank of Maharashtra, Amravati - 444 606, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.143675

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  Abstract 

Pachyonychia congenita (PC) is a rare genodermatosis characterized by hypertrophic nail changes and nail dystrophy. A 17-year-old male presented with thickened, yellowish brown discoloration of all the nails and multiple hyperkeratotic papules over his chest. Patient's younger sister also had similar nail and skin lesions since childhood. Presence of characteristic clinical features led to a diagnosis of a rare condition of PC type-1.

Keywords: Follicular keratosis, hyperkeratotic nails, Jadassohn-Lewandowsky syndrome, pachyonychia congenita


How to cite this article:
Agrawal SN, Kulkarni YA, Jane SD, Deshmukh YR. Pachyonychia congenita type-1 (Jadassohn-Lewandowsky syndrome). Indian J Paediatr Dermatol 2014;15:137-9

How to cite this URL:
Agrawal SN, Kulkarni YA, Jane SD, Deshmukh YR. Pachyonychia congenita type-1 (Jadassohn-Lewandowsky syndrome). Indian J Paediatr Dermatol [serial online] 2014 [cited 2020 Oct 19];15:137-9. Available from: https://www.ijpd.in/text.asp?2014/15/3/137/143675


  Introduction Top


Pachyonychia congenita (PC) is a rare genodermatosis having autosomal dominant pattern of inheritance. PC is characterized by hypertrophic nail changes and nail dystrophy and is usually present at birth or develop within 1-year of birth. Apart from the nail changes PC is also associated with oral mucosa, skin, hair, and teeth involvement. Muller and Wilson described the first case of PC and then after a year same condition was reported by Jadassohn-Lewandowsky. [1] On the basis of clinical features found in addition to the nail changes, PC has been classified into four types. Here, we report a rare case of PC type-1, known as Jadassohn-Lewandowsky syndrome (JLS).


  Case report Top


A 17-year-old male patient born of a nonconsanguinous marriage presented with thickened, yellowish brown discoloration of all the nails and multiple papules over his chest since the age of 4 months. Initially, at the age of 4 months, parents noticed thickening of few nails of toes and fingers, which gradually over months involved total twenty nails. Later, at the age of 6 months parents also noticed small hyperkeratotic growth over both soles, which over a period of years increased in thickness and area. It was associated with pain during walking. There was no history of natal teeth. On examination, the nails showed thickened, lusterless nail plate of all the nails with upward growth of its distal portion. The nails also showed the presence of a great amount of subungual hyperkeratosis and adhesion of the nail plate to the underlying nail bed [Figure 1]. There was hypercurvature of the transverse axis of all nail plates giving a "pinched shape" or "door wedge shape" to the free edge of the nail plate [Figure 2]. On cutaneous examination multiple hyperpigmented macules and hyperkeratotic follicular papules were present over neck, trunk and lower limbs [Figure 3]. Few large, thick, hyperkeratotic growths were also seen over pressure areas of both the feet [Figure 4] and [Figure 5]. The oral mucosa showed erythema and ulcer over the tongue. He also had hyperhydrosis of palms and soles. Systemic examination revealed no abnormality. The routine investigations were within the normal limits. Skin scraping for potassium hydroxide mount was negative for fungal elements. Patient's hair, teeth, throat, and ophthalmological examination were normal.
Figure 1: Clinical photograph of all nails showing thickened, lusterless nail plate with subungual hyperkeratosis

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Figure 2: Clinical photograph showing hypercurvature of the transverse axis of all nail plates

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Figure 3: Clinical photograph of anterior view of trunk showing multiple hyperpigmented macules and hyperkeratotic follicular papules

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Figure 4: Clinical photograph showing hyperkeratotic growths over pressure areas

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Figure 5: Clinical photograph showing thick, hyperkeratotic growth

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Patient's younger sister also had similar nail and skin lesions since early childhood and died due to pulmonary tuberculosis at the age of 10 years. No other family member was suffering from this type of lesions. With all these findings the patient was diagnosed as PC type-1 and was started on oral isotretinoin with topical 5-flurouarcil for 3 months. The patient showed no relief with this treatment and then patient lost to follow-up.


  Discussion Top


Pachyonychia congenita is a rare group of inherited ectodermal dysplasias transmitted in an autosomal dominant fashion. It may occur as a sporadic case with spontaneous mutation. Four variants of PC have been identified.(1) PC type-1 (JLS) characterized by focal palmoplantar keratoderma and follicular keratotic papules over body, (2) PC type-2 (Murray-Jackson-Lawler syndrome) having natal teeth and steatocytoma multiplex along with features of PC type-1, (3) PC type-3 (Schafer-Branauer syndrome) includes combined features of types 1 and 2 with angular chielitis, corneal dyskeratosis, and cataracts, (4) PC type-4 includes features of type-1 to type 3 with laryngeal lesions, hoarseness of voice with mental retardation, hair abnormalities and alopecia. PC with late age of onset has been suggested by Paller et al. and termed as PC tarda. [2],[3]

Jadassohn-Lewandowsky syndrome represents a group of rare, autosomal dominant keratin disorders with characteristic nail findings and with the additional abnormalities of the palmoplantar skin, pilosebaceous apparatus, oral and laryngeal mucosae, teeth, and hair.

This syndrome results from mutations [3] in genes encoding epidermal keratinocyte keratins, specifically the 1A and 1B helical encasing regions of keratins. K6a, K6b, K16, and K17 are the most frequent sites of mutations. The mutation is likely to have a deleterious effect on protein structure as it interferes with the assembly of polypeptides forming the keratin skeleton of epidermal cells.

The hallmark of this syndrome is hyperkeratosis of the nail bed. This type of subungual hyperkeratosis leads to the elevation and increased transverse curvature of the nail plate. [4] The elevation is most pronounced distally resulting in an omega or pincer nail deformity. The nail plates are also discolored, thick, and friable, and they sometimes fail to reach the distal fingertip. In general, all the 20 nails are involved, although the findings are often most severe on thumbs, index fingers and toes. [5]

The treatment is usually unsatisfactory and the options include topical application of salicylic acid, urea and 5-fluorouracil. The other treatment options are systemic therapy like oral retinoids (acitretin, retinoic acid) and surgery. [6]

Nail findings persist, while other manifestations may become less severe later in life. A genetic counselor should inform the carrier that this gene has an autosomal dominant inheritance pattern and that PC can affect one half of his or her progeny.

Our patient belongs to PC type-1 as he had classical nail deformity along with palmo-plantar hyperkeratotic lesions and follicular papules over the trunk. The patient did not show any of the other findings associated with other types of PC. This case is being reported because of its rarity.

 
  References Top

1.Feinstein A, Friedman J, Schewach-Millet M. Pachyonychia congenita. J Am Acad Dermatol 1988;19:705-11.  Back to cited text no. 1
    
2.Paller AS, Moore JA, Scher R. Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita. Arch Dermatol 1991;127:701-3.  Back to cited text no. 2
    
3.Dahl PR, Daoud MS, Su WP. Jadassohn-Lewandowski syndrome (pachyonychia congenita). Semin Dermatol 1995;14:129-34.  Back to cited text no. 3
    
4.Su WP, Chun SI, Hammond DE, Gordon H. Pachyonychia congenita: A clinical study of 12 cases and review of the literature. Pediatr Dermatol 1990;7:33-8.  Back to cited text no. 4
    
5.Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, et al. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc 2005;10:3-17.  Back to cited text no. 5
    
6.Thomsen RJ, Zuehlke RL, Beckman BI. Pachyonychia congenita: Surgical management of the nail changes. J Dermatol Surg Oncol 1982;8:24-8.  Back to cited text no. 6
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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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