Multisystem Abnormalities in a Patient with Papillon-Lefevre Syndrome
1996; King Faisal Specialist Hospital and Research Centre; Volume: 16; Issue: 4 Linguagem: Inglês
10.5144/0256-4947.1996.438
ISSN0975-4466
Autores Tópico(s)Neutrophil, Myeloperoxidase and Oxidative Mechanisms
ResumoCase ReportsMultisystem Abnormalities in a Patient with Papillon-Lefevre Syndrome Mohamed Al-MaatouqFRCPC Mohamed Al-Maatouq Address reprint requests and correspondence to Dr. Al-Maatouq: Department of Medicine (38), King Khalid University Hospital, P.O. Box 2925, Riyadh 11461, Saudi Arabia. From the Department of Medicine, King Khalid University Hospital, Riyadh Search for more papers by this author Published Online:1 Jul 1996https://doi.org/10.5144/0256-4947.1996.438SectionsPDF ToolsAdd to favoritesDownload citationTrack citations ShareShare onFacebookTwitterLinked InRedditEmail AboutIntroductionPalmoplantar keratoderma associated with serious dental aberrations were first described by Papillon and Lefevre in 1924.1 Since then, more than 100 cases have been reported in the literature from many countries.2–10 Several associated features have been described in these patients, including dural calcifications11 and immunological aberrations.12 In this report, we present a case of Papillon-Lefevre syndrome with skeletal, cardiac and ophthalmic abnormalities. To our knowledge, these associations have not been previously reported.CASE REPORTA 16-year-old Saudi male was referred to the endocrine clinic because of short stature. He was the product of a normal pregnancy, born at term. Apart from glaucoma in the right eye, corrected surgically, there were no major childhood illnesses or recurrent infections. The patient was not taking any medications. He reached puberty at age 15, but without a growth spurt. The parents are second-degree relatives with a mid-parental height of 156 cm. The patient lost his teeth at age seven years, but few teeth have erupted since, and several of which have been lost. He had dryness and thickening of the skin diagnosed as eczema. School performance was above average.On examination, height (147 cm) and weight (35 kg) were both below the third percentile. He had a lateral squint of the right eye and was partially edentulous (Figure 1). He had a high arched palate and there was no goiter. There was pectus carinatum (Figure 2) and a grade II/IV pansystolic murmur radiating to the left axilla. Visceral organs were not palpable. He had stage III pubic and axillary hair and a pubertal testicular volume. There was no facial hair. He had lichenification on both lower limbs at the external surfaces of the knees and ankles, as well as the elbows. He had keratoderma of both palms and soles.Figure 1. The male at 17 years of age.Download FigureFigure 2. Pectus carinatum deformity.Download FigureExamination of both parents showed no evidence of dermatodental or systemic abnormalities.Investigations revealed a normal hemogram and biochemical profile. Thyroid indices were normal. Growth hormone responses to exercise and clonidine were adequate. Echocardiography revealed mitral valve prolapse with moderate mitral regurgitation. Bone age was 12 years. A skeletal survey revealed minimal scoliosis of the upper dorsal spine and pectus carinatum. There was widening of the medullary canals with coarse trabeculation of hand bones. The proximal phalanges were tapered with constriction at the proximal ends of the third, fourth and fifth metacarpal bones (Figure 3). The olecranon process was hypoplastic and the elbow joint showed mild valgus deformity.Figure 3. Hand radiograph showing tapered phalanges and proximal constriction of metacarpal bones. Bone age is about 12 years (chronological age 16 years).Download FigureDISCUSSIONPalmoplantar keratosis is encountered in several conditions, but its association with periodontal disease is peculiar to the Papillon-Lefevre syndrome (PLS). In the case reported, palmoplantar keratosis was labeled as eczema and the premature tooth loss was incidental to the patient's presentation. Dural calcification, reported to be present in many cases of PLS,11 was absent in this patient and in more than 20 other Saudis with PLS evaluated over the past seven years at our institution utilizing computerized tomography.13 His short stature was genetically based, but a contribution from the associated skeletal dysplasia cannot be ruled out. The skeletal features encountered in this case were in the form of deformities such as the pectus carinatum, and truncated carpal bones, as well as radiological abnormalities suggestive of bone marrow hyperplasia encountered in hemoglobinopathies but ruled out in this patient with normal blood cell indices. To the best of the author's knowledge, these skeletal features have not been previously reported in association with PLS. The abnormally tapered phalanges and the constriction of the proximal ends of the metacarpal bones are of unknown significance and have not been reported in the literature in patients with PLS.Mitral valve prolapse and glaucoma were also noted in this patient and not reported in association with PLS. Careful clinicopathological studies combined with genetic and biochemical investigations are needed to elucidate the nature of the defect underlying the clinical phenotype of PLS. This is of special importance to practitioners in Saudi Arabia, where 37 cases were encountered in the Sdair region alone (population 200,000), giving an incidence much higher than the 1 to 4 per million reported elsewhere.13ARTICLE REFERENCES:1. Papillon-Lefevre P. "Deux cas de keratodermie palmaire et plantaire symetrique familiale (Maladie de eleda) chez le frère et la soeur" . Bull Soc Franc Derm Syph. 1924; 31: 82–7. Google Scholar2. Gorlin RJ, Sedano H, Anderson VE. "The syndrome of palmoplantar hyperkeratosis and premature periodontal destruction of the teeth" . J Paediat. 1964; 65: 895–908. Google Scholar3. Naik DN, Velou A, Alavandar G, et al. "Papillon-Lefèvre syndrome" . Oral Surg. 1968; 25: 19–23. Google Scholar4. Ruiz-Maldonado R. "Palmoplantar hyperkeratosis with periodontosis (Papillon-Lefèvre syndrome)" . Int J Dermatol. 1971; 10: 10–2. Google Scholar5. Perriman AO. "Papillon-Lefevre syndrome" . Brit Dent J. 1967; 123: 484–8. Google Scholar6. Piguet B, Coumel C, Bonnefond-Craponne M. "Keratodermie palmoplantaire (type Papillon-Lefèvre)" . Rev Stomat. 1969; 70: 446–59. Google Scholar7. Koch F, Kirschner H, Ehlers B. "Leber das Papillon-Lefèvre syndrome (Palmoplantar Hyperkeratose mit vorzeitigen Zahnansfall infolge paradontaler Destruktion des Knochens)" . Arch Kinderheik. 1968; 177: 210–6. Google Scholar8. Calo E. "Considerazioni su un case a carattere familiare di malattia di Meleda (varieta Papillon-Lefèvre)" . Riv Ital Stomat. 1970; 25: 539–48. Google Scholar9. MacVicar DN, Pearlstein DN. "Papillon-Lefèvre syndrome. Hyperkeratosis palmoplantaris with periodontosis" . Arch Derm. 1966; 94: 231–2. Google Scholar10. Bach JN, Jevan NE. "Papillon-Lefèvre" . Arch Derm. 1968; 97: 154–8. Google Scholar11. Brownstein MA, Skolnik P. "Papillon-Lefèvre syndrome" . Arch Dermatol. 1972; 106: 533–4. Google Scholar12. Haneke E, Hornstein OP, Lex C. "Increased susceptibility to infections in the Papillon-Lefèvre syndrome" . Dermatologica. 1975; 150: 283–6. Google Scholar13. Siddique MA, Patel PTP. Papillon-Lefèvre syndrome in Saudi Arabia (unpublished observations). Google Scholar Previous article Next article FiguresReferencesRelatedDetails Volume 16, Issue 4July 1996 Metrics History Received3 May 1995Accepted18 December 1995Published online1 July 1996 ACKNOWLEDGMENTSThe author would like to thank Drs. M. Batarfi, A. Muzarakchi and M. Khawajah for their helpful comments. Professors F. Al Kassimi and P.J. Patel reviewed the manuscript and Ms. Miriam Valeza and Ms. Leonida D. Campos typed the manuscript.InformationCopyright © 1996, Annals of Saudi MedicinePDF download
Referência(s)