Pachyonychia Congenita: A Clinical Study of 12 Cases and Review of the Literature

Abstract

Twelve cases of pachyonychia congenita were reviewed. The mode of inheritance was autosomal dominant. The clinical features of these patients included thickened nails, hyperkeratosis of the palms and soles, thinning of hair or alopecia, painful bullae or ulcerations of the palms and soles, leukokeratosis oris, verrucous lesions of the extremities, hyperhidrosis, premature eruption of teeth, paronychial infections, epidermal cysts with milia, and corneal dyskeratosis at times associated with cataracts. Biopsy from the plantar lesions usually revealed marked hyperkeratosis, acanthosis, moderate hypergranulosis, and minimal dermal inflammatory infiltration. Treatment with keratolytic agents and lubricants is indicated to areas of palmar and plantar hyperkeratosis but usually produces only transient benefit. Squamous cell carcinoma developed in one of the patients over the site of chronic plantar ulcerations. Areas of chronic bullous formation or ulceration should be observed for possible skin malignancy.

Clinical and Pathological Features of Pachyonychia Congenita

“…In addition to immunostaining of K14 (expected), K6, K16, K17 are seen in the basal cell layer. K6, K16, K17, and K14 staining persists and K10 staining appears in the suprabasal epidermis (Su et al, 1990;Wollina et al, 1991).…”

“…There is no cytologic atypia associated with plantar lesions, although transformation to squamous cell carcinoma has been reported in a chronic plantar lesion (Su et al, 1990). In addition to immunostaining of K14 (expected), K6, K16, K17 are seen in the basal cell layer.…”

“…Cysts PC patients are susceptible to developing cysts (Fig 8), including epidermal inclusion cysts, and pilosebaceous cysts such as steatocystomas and vellus hair cysts (Feinstein et al, 1988;Su et al, 1990;Moon et al, 1994). The epidermal inclusion cysts are extremely variable in size and severity.…”

“…Because of its rarity, the condition has been difficult to characterize or investigate, and no controlled prospective clinical trials have been published using this patient population. Our understanding of the clinical and pathological features of the disorder has been based upon case reports, a few case series, and some excellent reviews that have attempted to unify the case report literature (Kumer, 1935;Moldenhauer and Ernst, 1968;Schonfeld, 1980;Franzot et al, 1981;Stieglitz and Centerwall, 1983;Sivasundram et al, 1985;Feinstein et al, 1988;Su et al, 1990;Paller et al, 1991;Dahl et al, 1995). A comprehensive bibliography of PC, complete with translations of non-English articles, is available at http://www.pachyonychia.org.…”

Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: Newly recognized findings

“…Palmoplantar keratoderma in our patient was striking. Palmar or palmoplantar keratoderma has been reported in RHS patients [O'Donnell and James, 1992;Hart and Kyrkanides, 1994] as well as in those with other ectodermal dysplasias, such as EEC syndrome [Rü diger et al, 1970], AEC syndrome [Hay and Wells, 1976], dyskeratosis congenita [Sirinavin and Townbridge, 1975;Mallory and Krafchik, 1991], pachyonychia congenita [Su et al, 1990], palmoplantar hyperkeratosis and alopecia [Stevanovíc, 1959], palmoplantar hyperkeratosis with reticular pigmentation [Franceschetti, 1953], and in a patient with ectodermal dysplasia and lacrimal anomalies [Beckerman, 1973]. Thus, palmoplantar keratoderma may be associated with hypohidrotic condition.…”