|Year : 2019 | Volume
| Issue : 2 | Page : 184-187
Pachyonychia congenita: A case report
Silpa Ramachandran, Suman Jhansi Lakshmi, Elangovan Somasundaram, Senthil Kumar Balasubramanian
Department of Oral Medicine and Radiology, KSR Institute of Dental Science and Research, Tiruchengode, Tamil Nadu, India
|Date of Submission||26-Jan-2019|
|Date of Acceptance||27-Mar-2019|
|Date of Web Publication||24-Jun-2019|
Dr. Silpa Ramachandran
Department of Oral Medicine and Radiology, KSR Institute of Dental Science and Research, Thokkavadi, Tiruchengode - 637 215, Tamil Nadu
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Pachyonychia congenita (PC) is a rare autosomal dominant disorder of keratinization. It is usually present at birth or develops within 1 year of birth. It is classified into four types, but type-1 (Jadassohn–Lewandowsky type) and type-2 (Jackson–Lawler type) are the most common. PC is characterized by dystrophic, thickened nails, and painful palmo–plantar keratoderma. The nails are dramatically affected in most patients, but oral lesions are seen in patients affected by the Jadassohn–Lewandowsky type. In literature, fewer than 500 cases have been reported about PC. We report a case of PC in an 18-year-old male patient who presented with subungual hyperkeratosis, palmar-plantar keratosis, and leukokeratosis.
Keywords: Autosomal dominant, pachyonychia congenita, subungual hyperkeratosis
|How to cite this article:|
Ramachandran S, Lakshmi SJ, Somasundaram E, Balasubramanian SK. Pachyonychia congenita: A case report. J Indian Acad Oral Med Radiol 2019;31:184-7
|How to cite this URL:|
Ramachandran S, Lakshmi SJ, Somasundaram E, Balasubramanian SK. Pachyonychia congenita: A case report. J Indian Acad Oral Med Radiol [serial online] 2019 [cited 2020 Jul 15];31:184-7. Available from: http://www.jiaomr.in/text.asp?2019/31/2/184/261085
| Introduction|| |
Pachyonychia congenita (PC) is a rare autosomal dominant disorder of keratinization. It was first documented by Muller in 1904, followed by Jadassohn and Lewandowsky in 1906. In literature, fewer than 500 cases have been reported about PC. PC is characterized by subungual hyperkeratosis, focal palmo–plantar keratoderma, and oral leukokeratosis, which are usually present since birth or develops within one year of birth. It is classified into four types, but type-1 (Jadassohn–Lewandowsky type) and type-2 (Jackson–Lawler type) are the most common. Oral lesions are commonly seen in patients affected by the Jadassohn–Lewandowsky type. The disease results from mutations in the gene encoding epidermal keratinocyte keratins. Mutations in keratin genes of K6a, K16 is seen in type-1 and K6b and K17 is present in type -2. Here, we report a case of PC in a patient who visited the clinical OP in our college.
| Case Report|| |
An 18-year-old male patient came to our OPD for a general dental checkup. The patient was an engineering student in the first year of his studies. He had a waddling type of gait and gave a history of taking medication for the past 10 years for skin and nail defects that were present since birth. He had a family history of similar condition seen in his grandfather and father, but his only sibling was spared. There was no parental consanguinity.
On examination, all the finger nails and toe nails were affected by a blackish brown discoloration and were dystrophic and thickened. The nails exhibited subungual hyperkeratosis, producing a distal elevation of the nails [Figure 1] and [Figure 2]. Palmar–plantar keratosis along with calluses on the plantar surfaces of the feet was noted [Figure 3] and [Figure 4]. The keratosis on the plantar surface was markedly increased compared with the hands. It was prominent on the soles of feet that was near the gap between the toes and the plantar surface. The color was mild yellow in some areas to a darker yellow on the big toe and the elevated surfaces of the plantar surface, indicating increased keratinization. Multiple papules on the dorsal surface of the feet was noticed [Figure 5]. Patient reported the presence of similar papules on knees and thighs. He gave a history of having difficulty and pain while walking. He revealed the pain had improved over the years and he obtained relief after topical application of medication.
Extraoral examination revealed no abnormalities. On intraoral examination, a linear white lesion was seen in both right and left buccal mucosa corresponding to the occlusal planes.
It resembled linea alba and extended from the commissure of the lips to the third molar region. The lesion was more prominent near the corner of the mouth on the right buccal mucosa. On palpation it was rough, non-tender, and non-scrapable, suggestive of leukokeratosis [Figure 6] and [Figure 7]. The posterior teeth in the region were not sharp. A white lesion was evident in the middle part of lateral aspect of dorsal surface of the tongue, on the right side [Figure 8]. Similar lesion was present on the left side, which extended till the region of the foliate papillae [Figure 9]. The lesion resembled white hair-like projection with yellow plaque in the center. On palpation it was rough, non-scrapable, and non-tender. The labial mucosa, ventral surface of the tongue, floor of the mouth, vestibular mucosa, hard and soft palate, gingiva, and oropharynx revealed no abnormalities. Full complement of teeth was present with mild stains calculus and marginal gingivitis. The patient was unaware of the presence of the oral lesions.
Differential diagnosis of leukoplakia and frictional keratosis were considered for the lesion on the buccal mucosa. Oral hairy leukoplakia and chronic hyperplastic candidiasis were considered for the tongue lesion. Based on the characteristic clinical presentation and history, a diagnosis of PC was made.
The presence of characteristic skin and oral lesion did not warranty a biopsy to be performed. The patient was taking isoretinin 10 mg and H.vit forte tablets (Biotin 10 MG+Elemental copper 2 MG+Elemental manganese 5 MG+Elemental selenium 40 MCG+Elemental zinc 25 MG+ L-cysteine 10 MG) once daily as well as topical application of Halox-S (Halobetasol, Salicylic Acid) and Tazret 0.5% (Tazarotene) gel for skin lesions and nail abnormalities. The oral lesion did not require any treatment. The patient was referred to the department of Periodontics for oral prophylaxis, due to the presence of generalised chronic gingivitis.
| Discussion|| |
PC is a rare type of ectodermal dysplasia with defects in keratin. Pachy means thick and onychia refers to nails. Inheritance is autosomal dominant with incomplete penetrance, but autosomal recessive and sporadic cases have been reported. In this case, the condition was present in three generations of the males of the family as depicted by the pedigree chart [Figure 10].
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. The elevation is most pronounced distally, sometimes resulting in a pincer nail deformity. The nail plates are also discolored, thick, and friable, and they sometimes fail to reach the distal fingertip.
Four variants of PC have been identified:
- PC type-1 (Jadassohn–Lewandowsky type) characterized by focal palmo–plantar keratoderma, wedge-shaped nails, oral leukokeratosis, and hyperhidrosis and follicular keratotic papules over the body.
- PC type-2 (Murray--Jackson--Lawler syndrome) having natal teeth and steatocystoma multiplex along with features of PC type-1
- PC type-3 (Schafer--Branauer syndrome) includes combined features of types 1 and 2 with angular cheilitis, corneal dyskeratosis, and cataracts
- 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.,
Our patient exhibited PC type-1, due to the presentation of nail deformity along with palmo–plantar hyperkeratotic lesions, keratotic papules, and oral leukokeratoses.
Diagnosis can be done with molecular DNA analysis which will reveal deletion and substitution mutation and other mutation of keratin genes. Prenatal diagnosis can be done by chorionic villous sampling. Oral biopsy confirms leukokeratosis. The histopathological features will reveal marked hyperparakeratosis and acanthosis with perinuclear clearing of the epithelial cells.
Patients with PC often face issues with quality of life. Most patients have to pay continuous attention to removal of excess keratin. The treatment is usually unsatisfactory and the options include topical application of salicylic acid, urea and 5-fluorouracil. The other treatment options include systemic therapy like oral retinoids (acitretin, retinoic acid) and surgery., The oral lesions of PC show no apparent tendency for malignant transformation, hence no treatment is required.
Nail findings will persist, while other manifestations may become less severe later in life. A genetic counsellor 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. Patients should receive genetic counselling, as an aid in family planning.
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
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]