Indian Journal of Paediatric Dermatology

: 2017  |  Volume : 18  |  Issue : 2  |  Page : 150--151

Pachyonychia congenita tarda: A very rare disease entity

Tasleem Arif, Mohammad Adil, Syed Suhail Amin, Konchok Dorjay, Roopal Bansal 
 Department of Dermatology, STDs and Leprosy, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India

Correspondence Address:
Tasleem Arif
Al-Rahman Apartment, Ground Floor, Behind Zakaria Market, New Sir Syed Nagar, Civil Lines, Aligarh, Uttar Pradesh

How to cite this article:
Arif T, Adil M, Amin SS, Dorjay K, Bansal R. Pachyonychia congenita tarda: A very rare disease entity.Indian J Paediatr Dermatol 2017;18:150-151

How to cite this URL:
Arif T, Adil M, Amin SS, Dorjay K, Bansal R. Pachyonychia congenita tarda: A very rare disease entity. Indian J Paediatr Dermatol [serial online] 2017 [cited 2020 Sep 18 ];18:150-151
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Pachyonychia congenita (PC) is a group of rare ectodermal dysplasias inherited usually in autosomal dominant fashion and characterized by early onset of nail dystrophy and abnormal keratinization of mucosa and skin.[1] PC tarda (PCT) is a special type of PC characterized by later onset, usually in the second and third decades. Only a few cases of PCT have been described in literature. We describe another case of PCT with classical features.

An 18-year-old male patient presented to us with deformed nails since the age of 12 years. There was no history of similar disease in any of the family members. The patient had no other complaints. On examination, he was found to have yellowish to dark brownish discoloration of all nails with marked subungual hyperkeratosis leading to nail plate elevation and “pinching” of the nail plate [Figure 1]. Keratotic follicular papules were also present over the bilateral elbows and knees. The palms and soles were normal. Oral cavity demonstrated a well-defined, whitish, nonscrappable, and nontender plaque on the dorsum of the tongue [Figure 2]. Rest of the examination was unremarkable. Potassium hydroxide mount from nail and mucosal scrapings was negative for fungal disease. A nail biopsy was refused by the patient. Based on the clinical history and examination, a diagnosis of PCT was made.{Figure 1}{Figure 2}

PC was first described in 1905 by Wilson and its associations with ectodermal defects was given by Jadassohn–Lewandowsky.[2] The transmission is by autosomal dominant route, but autosomal recessive mode has also been described.[3] The disease occurs due to a mutation in the genes encoding keratin 6a, 6b, 16, and 17.[4] Four types of PC have been described, with type I (Jadassohn–Lewandowsky syndrome) and type II (Jackson–Lawler syndrome) being the most common.[5] PC type I is characterized by hypertrophic nail dystrophy developing in the first few months of life, oral leukokeratosis, focal palmoplantar keratoderma, and follicular keratosis. PC type II shows features of PC type I with natal teeth, hyperhidrosis and bullae of palms and soles, and steatocystomas and epidermal inclusion cysts.[6] PCT is a special subset of PC type I, characterized by the onset of nail dystrophy in the second decades of life or later and was first described in 1991.[7] There has been no satisfactory explanation for the late onset of the disease.[7] Abnormality of keratin 6a/16, which is found in the nail bed, has been noted, and reports of familial cases also exist.[8] Exclusive nail involvement may be one of the presentations of the disease.[9] Leukokeratosis of larynx can compromise breathing and can be potentially fatal.[1] Differential diagnosis includes onychomycosis, lichen planus, subungual warts, psoriasis, Norwegian scabies, and Darier's disease. Diagnosis is suggested by family history and associated clinical features. Treatment involves emollients, keratolytics, and retinoids for hyperkeratotic lesions. Surgical excision might be needed for deformed nails and leukokeratosis obstructing respiration.[10]

Only a few cases of PCT have been reported in literature.[1],[2],[4],[7],[8],[9] It is important to differentiate and recognize this disease as a distinct subset of PC due to later onset of symptoms. The classical presentation of PCT, an extremely rare disease, prompted us to present this case.

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