American Journal of Medical Genetics 46247 (1993)

Letter to the Editor

Manifestation of Heterozygosity in Papillon-Lefevre Syndrome?

To the Editor:

Occasional manifestation of heterozygosity for auto- soma1 recessive disorders is an interesting, though un- explained, phenomenon [Vogel, 19841.

We have studied a 4-year-old Caucasian girl with Pa- pillon-Lefhre syndrome [Haneke, 19791. Because of palmoplantar keratosis, periodontopathy with an early and typical loss of teeth, and susceptibility to furun- culosis and pyoderma as well, this diagnosis seems out of the question. Autosomal recessive inheritance was sup- ported by parental consanguinity.

Her father had manifested an early and unexplained periodontopathy. He lost 7 teeth before age 25 years. However, palmoplantar keratosis and susceptibility to infections is lacking. None of his 7 sibs exhibits similar symptoms, nor do 7 children of 4 of these sibs. In the literature, several patients with one parent losing teeth early in life have been recorded [Krebs, 1978; Munford, 1976; Pfister, 19651. Unfortunately, details are not pub- lished. Despite this lack of information, we think that periodontopathy with an early loss of teeth and peculiar oral findings could be a heterozygote manifestation in Papillon-Lefhvre syndrome.

At least 2 mechanisms can be envisaged. First, if genomic imprinting is considered, the sex of the trans- mitting grandparent should be known [Hall, 19901. However, this important fact is lacking in all relevant

publications. In our observation, locally limited expres- sion of the gene of Papillon Lefhvre syndrome could be considered an argument against genomic imprinting, because this mechanism would likely affect all symp- toms of a disorder. Second, somatic homozygosity of the mutated allele could be due to isodisomy or a second “classic” mutation during early development. Both mechanisms would explain nonsystemic traits, al- though isodisomy should imply the expression of all disomic genes.

REFERENCES Hall JG (1990): Genomic imprinting: Review and relevance to human

diseases. Am J Hum Genet 462357-73. Haneke E (1979): The Papillon-Lefhe syndrome: Keratosis pal-

moplantaris with periodontopathy-Report of a case and review of the cases in the literature. Hum Genet 51:l-35.

Krebs A (1978): Papillon-Lefhvre syndrom. Dermatologica 156:59-63. Munford AG (1976): Papillon-Lefhvre syndromeReport of 2 cases in

pfister R (1965): Das Papillon-LefMe syndrom. Fortschr Med 83:

Vogel F (1984): Clinical consequences of heterozygosity for autosomal-

the same family. J Am Dent Assoc 93:121-124.

717-720.

recessive diseases. Clin Genet 25:381-415.

Dieter Kotzot Rudolf A. Pfeiffer Department of Human Genetics University of Erlangen-Nurnberg Germany

Received for publication April 28, 1992; revision received Octo-

Address Correspondence to Dr. Dieter Kotmt, Heinrich-Heine- ber 23, 1992.

Str. 14, W-8510 Fiirth, Germany.

0 1993 Wiley-Liss, Inc.