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Palmoplantar Keratoderma with Progressive Gingivitis and Recurrent Pyodermas

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Palmoplantar Keratoderma with Progressive Gingivitis and Recurrent Pyodermas Palmoplantar Keratoderma With Progressive Gingivitis and Recurrent Pyodermas Tyler A. Moss, DO; Anne P. Spillane, MD; Sam F. Almquist, MD; Patrick E. McCleskey, MD; Oliver J. Wisco, DO Practice Points Papillon-Lefèvre syndrome (PLS) is an autosomal-recessive inherited transgredient palmoplantar kerato- derma (PPK) that is associated with gingivitis and recurrent pyodermas. The symptoms associated with PLS are thought to be due to cathepsin C gene, CTSC, mutations. CTSC is expressed in epithelial regions commonly affected by PLS and also plays a role in the activation of immune and inflammatory responses. Papillon-Lefèvre syndrome must be differentiated from other conditions causing PPK, such as Haim-Munk syndrome, Greither syndrome, mal de Meleda, Clouston syndrome, Vohwinkel syndrome, and Olmsted syndrome. Treatment of PLS includesCUTIS keratolytics such as urea and/or salicylic acid comb ined with oral retinoids. Active gingivitis may be treated with combined use of amoxicillin and metronidazole. Papillon-Lefèvre syndrome (PLS) is a rare inher- Case Report ited palmoplantar keratoderma (PPK) that is asso- A 30-year-old woman presented to the dermatology ciated with progressive gingivitis and recurrent clinic with erythematous hyperkeratotic plaques on pyodermas.Do We present a caseNot exhibiting classic the palmsCopy and soles. The plaques extended onto features of this autosomal-recessive condition the dorsal aspects of the fingers, toes, hands, and and review the current understanding of its patho- feet (Figures 1 and 2). The patient had psoriasiform physiology, diagnosis, and treatment. Addition- plaques on the extensor surfaces of the knees and ally, a review of pertinent transgredient PPKs is elbows (Figure 3) along with a history of slow- undertaken, with key and distinguishing features progressing gingivitis and periodontal disease that of each syndrome highlighted. began in early childhood (Figure 4). The patient Cutis. 2014;93:193-198. also had modest hyperhidrosis of the palms and soles, several scattered longitudinal grooves of the nails, and a history of chronic furunculosis with occasional abscesses requiring incision and drainage. There Dr. Moss is from San Antonio Military Medical Center, Fort Sam were no notable hair findings. The patient was oth- Houston, Texas. Dr. Spillane is from Kimbrough Ambulatory Care erwise healthy with normal neurologic development. Center, Fort Meade, Maryland. Dr. Almquist is from William Beaumont Army Medical Center, El Paso, Texas. Dr. McCleskey is from Kaiser Permanente, Oakland, California. Dr. Wisco is from Keesler Medical Comment Center, Keesler Air Force Base, Mississippi. Papillon-Lefèvre syndrome (PLS) is an inherited The authors report no conflict of interest. palmoplantar keratoderma (PPK) characterized by The opinions expressed in this article are those of the authors and do a diffuse transgredient palmoplantar hyperkeratosis not represent the viewpoints of the US Air Force, the US Army, or the and associated periodontitis with resultant pre- US Department of Defense. 1 Correspondence: Anne P. Spillane, MD, Department of Dermatology, mature loss of teeth. Papillon and Lefèvre first Kimbrough Ambulatory Care Center, 2480 Llewellyn Ave, Ste 5800, recognized this condition as a distinct entity in Fort Meade, MD 20755-5129 ([email protected]). their 1924 report of a brother and sister who WWW.CUTIS.COM VOLUME 93, APRIL 2014 193 Copyright Cutis 2014. No part of this publication may be reproduced, stored, or transmitted without the prior written permission of the Publisher. Palmoplantar Keratoderma Figure 3. Psoriasiform plaques on the extensor sur- faces of the bilateral knees. Figure 1. Diffuse palmoplantar keratoderma.CUTIS Figure 4. Periodontal disease associated with palmo- plantar keratoderma. and soles but also can occur focally.4 Palmoplantar keratoderma may be exacerbated in the cool dry win- Do Notter monthsCopy during which patients sometimes develop painful fissures.5 Psoriasiform plaques on the elbows and knees and hyperhidrosis of the palms and soles often are evident.6,7 Nail changes that manifest as transverse grooves and fissures typically are apparent in advanced cases. Additional cutaneous findings Figure 2. Lateral view of the foot showing include recurrent pyogenic infections of the skin, transgrediens. which occur in approximately 20% of patients with PLS.8,9 Histopathologic findings of the palmoplantar skin of patients with PLS are relatively nonspecific and not well described in the literature. Reported demonstrated the distinguishing characteristics of findings include hyperkeratosis, acanthosis, thinned the disease. Papillon-Lefèvre syndrome is inherited dermal papillae with tortuous capillaries, and occa- in an autosomal-recessive pattern, with equal pen- sional patches of parakeratosis. A slight perivascular etrance in males and females and without racial pre- inflammatory infiltrate also has been described.10,11 dominance.2 The disease is rare, with a prevalence Although teeth erupt normally in patients with estimated to be 1 to 4 per million individuals in the PLS, their eruption is accompanied by gingival general population; the carrier rate is estimated to be inflammation and subsequent destruction of the 2 to 4 per 1000 individuals.3 periodontia, with resultant characteristic loss of Palmoplantar keratoderma in PLS usually arises deciduous and permanent teeth. Involvement of the within the first 4 years of life. The keratotic plaques dentition appears at 3 to 4 years of age, with some most often involve the entire surface of the palms patients becoming edentulous by early adolescence, 194 CUTIS® WWW.CUTIS.COM Copyright Cutis 2014. No part of this publication may be reproduced, stored, or transmitted without the prior written permission of the Publisher. Palmoplantar Keratoderma except for typical sparing of the third molars.12,13 patients. CTSC is expressed in epithelial regions Premature loss of teeth may lead to distortion of commonly affected by PLS, such as the palms, soles, maxillary and mandibular bone growth.14 Notably, knees, and keratinized oral gingiva. It functions in there appears to be no correlation between the the regulation of proteolysis in epithelia, and when degree of dermatologic involvement and severity of this proteolysis is disturbed, abnormal cornification periodontal disease.15 and cell turnover result. Thus CTSC has been pro- Recurrent pyodermas also are relatively common posed as essential for establishing and maintaining in PLS, likely related to a loss of function of various the structural organization of the epidermis in the immune cells. Impairment of chemotaxis as well as extremities as well as the integrity of the tissue sur- excessive production of free radicals and polymor- rounding the teeth; it also may contribute to the phonuclear leukocytes frequently are noted in PLS processing of proteins such as keratins.31 patients.16,17 Further described derangements include The clinical differential diagnosis for PLS includes alteration of natural killer cell cytotoxic function other transgredient PPKs, chiefly Haim-Munk syn- and reduction in T lymphocyte levels.18,19 Infections drome. Patients with Haim-Munk syndrome present resulting from these immunologic impairments are similar to those with PLS with diffuse PPK plus peri- varied and include cutaneous pyodermas and furun- odontitis; however, they also have arachnodactyly, culosis, periodontitis, and pneumonia. Even fatal acro-osteolysis, and atrophic nail changes. Haim- infections such as abdominal abscesses have been Munk syndrome also is the result of mutations in reported, with increasing reports of pyogenic hepatic CTSC and is considered to be an allelic variant abscesses as a complication of PLS. Bacteremia dur- of PLS.32 ing periods of extensive periodontal inflammation Additional PPK considerations, listed in roughly also is known to occur.20,21 descending order of clinical relevance, include Several variants of PLS have been reported, includ- Greither syndrome, mal de Meleda, Clouston syn- ing cases of late-onset PLS, rare associations with drome (hidrotic ectodermal dysplasia), Vohwinkel oculocutaneous albinism, acro-osteolysis, pseudo- syndrome, and Olmsted syndrome (Table). Greither ainhum, and ocular surface squamous neoplasia.22-26 syndrome, also known as transgrediens et progredi- The unique constellation CUTISof symptoms associated ens PPK, manifests with similar cutaneous findings with PLS is thought to stem from mutations in the as PLS, with a transgredient PPK and hyperkeratosis cathepsin C gene, CTSC, on 11q14. CTSC, also of the knees and elbows; however, no extracutaneous known as dipeptidyl peptidase I, plays an important features are evident. Greither syndrome is caused role in intracellular protein degradation and functions by mutations in the keratin 1 gene, KRT1, and has as a central coordinator for activation of many serine an autosomal dominant mode of inheritance.33 Mal proteases that are critical to the immune and inflamma- de Meleda has an autosomal-recessive inheritance tory Doresponses of myeloid and lymphoidNot cells.27 Loss of pattern Copyand may be distinguished by a malodor of CTSC activity thus may help to explain the variety of the feet and constricting bands on the terminal immunologic defects seen accompanying transgredient phalanges. Clouston syndrome, which is autosomal PPK and gingivitis in patients with PLS. Specifically, dominant, is characterized by tufted phalanges in defects in CTSC lead to
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