Report of a Case of Pachyonychia Congenita

Kelly, Edward W.; Pinkus, Herman N

doi:10.1001/archderm.1958.01560060090019

Cited by 20 publications

(8 citation statements)

References 2 publications

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“…The predominant clinical feature of PC is, as the name suggests, a severe dystrophy of the nail. Although there has been much debate about the origin of this lesion (Fleckman, 1985), it is now widely accepted that the nail phenotype in all forms of PC disease arises from hyperkeratosis of the nail bed (Kelly and Pinkus, 1958) and not from alterations in the matrix. In fact, Kelly and Pinkus (1958) reported that the nail plate and matrix appear normal in PC.…”

Section: Discussionmentioning

confidence: 99%

Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype

McGowan

2000

Journal of Investigative Dermatology

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The hard-keratin-containing portion of the murine hair shaft displays a positive immunoreactivity with an antibody against the soft epithelial keratin, K17. The K17-expressing cell population is located in the medulla compartment of the hair. Consistent with this observation, K17-containing cells also occur in the presumptive medulla precursor cells located in the hair follicle matrix. Western blot analysis of hair extracts prepared from a number of mouse strains confirms this observation and suggests that K17 expression in the hair shaft is a general trait in this species. The expression of K17 in human hair extracts is restricted to eyebrow and facial hair samples. These are the major sites for the occurrence of the pili torti (twisted hair) phenotype in the type 2 (Jackson-Lawler) form of pachyonychia congenita, previously shown to arise from inherited K17 mutations. Given that all forms of pachyonychia congenita show an involvement of the nail, we compared the expression of the two other genes mutated in pachyonychia congenita diseases, K6 and K16, with that of K17 in human nail. All three keratins are abundantly expressed within the nail bed epithelium, whereas K17 protein is expressed in the nail matrix, which contains the epithelial cell precursors for the nail plate. Our data suggest a role for K17 in the formation and maintenance of various skin appendages and directly support the concept that pachyonychia congenita is a disease of the nail bed.

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Section: Discussionmentioning

confidence: 99%

Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype

McGowan

2000

Journal of Investigative Dermatology

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“…The distal nail matrix is hyperplastic and papillomatous, producmg large quantities of homy material mixed with periodic acid-Schiff-positive hyalin. Consequently, the deformed nail resembles a miniature horse's hoof (44).…”

Section: Histopathologic Changesmentioning

confidence: 99%

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

Su¹,

Chun

Hammond³

et al. 1990

Pediatric Dermatology

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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.

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“…Systemic retinoids, including natural vitamin A (Kelly and Pinkus, 1958), isotretinoin (Thomas et al, 1984), and etretinate (Dupre et al, 1981;Lucker and Steijlen, 1995), have been used to reduce hyperkeratosis. Most patients and physicians find that retinoids are effective in reducing hyperkeratosis, but that they also can increase tenderness and blistering.…”

Section: Resultsmentioning

confidence: 99%

Treatment of Pachyonychia Congenita

Milstone

Fleckman

Leachman

et al. 2005

Journal of Investigative Dermatology Symposium Proceedings

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There are currently no specific treatments for pachyonychia congenita (PC). Available treatments generally are directed at specific manifestations of the disorder, and an effective treatment plan must recognize that different patients are more or less troubled by different manifestations of the disease. Treatment for all aspects of PC has been less than completely satisfactory. Very few studies have compared different approaches to treatment, and fewer still have given longitudinal follow-up of efficacy and patient acceptance. This review is essentially a compilation of anecdotes. It was collected from physicians' reports in the literature, from direct communication with physicians currently following patients with PC and from patients who answered a questionnaire on the Pachyonychia Congenita Project web page (http://www.pachyonychia.org/Registry.html).

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Report of a Case of Pachyonychia Congenita

Cited by 20 publications

References 2 publications

Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype

Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype

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

Treatment of Pachyonychia Congenita

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