A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?

Abstract

A 30-year-old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh-colored, firm cystic lesions on his axillae. He had focal, painful, hyperkeratotic areas sited particularly on both his soles and palms. In addition to these, leukokeratosis and ulcerative areas on buccal, labial mucosa, tongue, and at corners of the mouth, and complete loss of teeth was observed. The proximal layering was revealed on all of his nails. The laboratory investigations produced normal results except the deficiency of immunoglobulin A. The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. He got removable dental prosthesis because of inadequate alimentation. Squamous cell cancer developed on lower lip mucosa during follow-up. We present an individual who had different nail dystrophy, epidermal cysts, mental retardation, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions. We think that the present case may be an unusual new type of pachyonychia congenita.

Systemic conditions associated with increased risk to develop oral squamous cell carcinoma: Systematic review and meta‐analysis

“…Eighteen studies evaluated national databases from Japan, 19 United States, 20,21 Denmark, 22 Taiwan, 23,24 and South Korea 25,26 . Fifty‐nine articles were case reports, 27–85 7 case series, 86–92 17 cross‐sectional, 19,21–26,93–102 and 2 case–control study 103,104 . One study 20 presented two different cohorts (retrospective and prospective case–control).…”

New Described Dermatological Disorders

“…Laboratory investigations were within normal limits except for a deficiency of immunoglobulin A. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for PC were negative. After the patient received a removable dental prosthesis, squamous cell cancer which is unexpected in oral lesions of PC developed on the lower lip mucosa during follow-up ( Figure 1 ) [ 8 ].…”

“…In this patient, proximal layering of all the nails was unlike characteristic thickened dystrophic nails of PC. The authors suggested this case may be a new syndrome or an unusual new type of pachyonychia congenita because of this differing nail dystrophy, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions [ 8 ].…”

Sweet syndrome: Clinical and Laboratory Findings of 31 Cases

“…Akut febril nötro lik dermatoz olarak da bilinen hastalık ağrılı in amatuvar papül ve nodüllerden oluşmuş eritemli plaklar, ateş, nötro lik lökositoz ve dermiste yoğun nötro l in ltrasyonu ile karakterizedir 1,2 . Sweet sendromunun klinik ve histopatolojik olarak değerlendirildiği çalışmalar olmakla birlikte ülkemize ait Sweet sendromu ile ilgili yayınlar genellikle olgu bildirimi şeklindedir [3][4][5][6][7] . Ulusal çalışmalarda Öztaş ve ark.nın bildirdiği 8 olguya ait sadece bir çalışmaya rastladık 8 .…”