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|Year : 1980 | Volume
| Issue : 4 | Page : 267-8
Papillon-Lefevre syndrome with ocular nystagmus (a case report).
Mhaiskar UU, Kulkarni SS, Shah MD
|How to cite this article:|
Mhaiskar U U, Kulkarni S S, Shah M D. Papillon-Lefevre syndrome with ocular nystagmus (a case report). J Postgrad Med 1980;26:267
Papillon-Lefevre syndrome is an uncommon disorder of the pediatric age group of which a single case is described from India. Fiftysix cases have been reviewed from the world literature till 1976. The most important features of this syndrome are (1) Palmoplantar hyperkeratosis and (2) early fall of deciduous and permanent teeth. The present case has been reported as he had ill-developed macula with absent foveal reflex resulting in coarse ocular nystagmus-a feature which has not been described in this syndrome so far.
M.D., a 31/2 year old boy was born of consanguinous marriage at full term. At the age of 6 months a scaly lesion was noticed over the dorsal aspect of the right knee joint which gradually increased in size. Similar lesions were noticed over soles, dorsum of the feet, both malleoli, shin of tibia, palms and extensor surfaces of both elbows over next 3 years. [Fig. 1] and [Fig. 2].The deciduous teeth erupted in a normal fashion but as soon as the dentition was complete, teeth became loose and most of them were shed over a period of two months. Mouth cavity was left with only four molars by the age of 31/2 years. Gums did not show any swelling, bleeding or pockets of pus. Skin of the palms and soles was extremely thick. The creases appeared like deep fissures. Healed lesions had left behind hypopigmented patches. There was a clear demarcation between the normal skin and the areas of hyperkeratosis. Nails and hair were normal. Patient had marked pendular nystagmus. Ophthalmological examination revealed ill-developed macula with an absent foveal reflex resulting in nystagmus. Parents and one sibling were normal clinically.
Radiological examination of the skull was normal. There wag no radiological evidence of periodontal disease and permanent teeth were well visualised in X-rays of the mandible and maxillae. Skin biopsy revealed hyperkeratosis and acanthocytosis.
Papillon-Lefevre syndrome is a rare disorder. It usually follows an autosomal recessive pattern. The common age of presentation is between the first and the fourth year of life. Besides the two essential features of hyperkeratosis and early fall of teeth, Gorlin et al have added the third component of dural calcification which was observed in significant number of cases reviewed by them.
The skin lesion is predominantly hyperkeratotic, mainly affecting the palms and soles but occasionally extending to the dorsum of hands and feet. Rarely it could affect any part of skin below the knee and elbow. Other ectodermal elements like hair and nails may show dystrophy.
Both the deciduous and permanent teeth fall permanently. This may be preceded by red, swollen and boggy gums which bleed easily. The skin manifestations subside with the fall of deciduous teeth. They recur at the time of eruption of permanent teeth and subside with fall of these teeth. Usually the patient becomes edentulous by 16 years of age. Surprisingly third molar escapes this pathology.
Choroid plexus and the tentorial attachments may show calcification.,  Other rare features include hypertension, diabetes, osteoporotic skeleton, goitre, microphthalmia, and cardiac affection.
Present case had presented at the usual age with the dermal and dental manifestations. The histopathology of the skin was consistent with the diagnosis of Papillon-Lefevre syndrome. Altered vitamin A metabolism at the tissue level has been postulated as the basic defect The association of ill-developed macula is interesting. Whether this forms an essential part of the syndrome or not can be said with certainty only if in future similar association is reported.
Prognosis is relatively good as the condition is self-limiting and skin becomes normal over a period of time. There is no specific treatment available. Vitamin A systemically and locally has been tried without much success. Hyperkeratosis may be minimised by applying keratolytic agents locally. Dentures are well tolerated and so should be advised after the age of 16 years when active manifestations of the disease cease.
|1.||Dekker, G. and Jansen, L. H.: Periodontosis in a child with hyperkeratosis palmo-plantaris. J. Perio., 29: 266-269, 1958. |
|2.||Gorlin, R. J., Sedano, H. and Anderson, V. E.: The syndrome of plamar plantar hyperkeratosis and premature periodontal destruction of the teeth. J. Pediat., 65: 895-908, 1964. |
|3.||Muford, A. G.: Papillon-Lefevre Syndrome-report of two cases in the same family. J. Amer. Dental Assoc., 93: 121-128, 1976. |
|4.||Padmini, Urs R. A., Thomas, S. and Hoover, W.: Hyperkeratosis palmoplantaris with involvement of teeth (Papillon-Lefevre Syndrome). Indian Pediatr. 13: 865-870, 1976. |