Haim-Munk syndrome Q87.84 -

Haim and Munk, 1965

Haim-Munk syndrome is an autosomal recessively inherited genodermatosis characterized by palmoplantar keratoderma, severe periodontitis, arachnodactyly, acroosteolysis, atrophic changes of the nails, and radiographic deformity of the fingers (see Hart et al. 2000). Causally, Haim-Munk syndrome (HMS) is due to a homozygous mutation in the gene for cathepsin C (CTSC; 602365) on chromosome 11q14.

There is a large phenotypic overlap between Papillon-Lefevre syndrome (PS) and Haim-Munk syndrome (HM). In PS, mutations are present in the CTSC gene. Hart et al. (2000) studied 50 members of four siblings, a small community of Jews from Cochi, India, in whom the sydnrome was dignosticized and identified a missense mutation in the CTSC gene (Hart et al. 2000; 602365.0006) at a highly conserved residue that segregates with the disease. Furthermore, Hart et al. (2000) found a nonsense mutation (602365.0007) at the same codon in a Turkish family with PLS, confirming that HMS and PLS are allelic.

For further details see below. Keratosis palmoplantaris, periodontopathy,onychogryposis with mutation in CTSC

There is a large phenotypic overlap between Papillon-Lefevre syndrome (PS) and Haim-Munk syndrome (HM). In PS, mutations are present in the CTSC gene. Hart et al. (2000) studied 50 members of four siblings, a small community of Jews from Cochi, India, in whom SYdnrome was dignosticized and identified a missense mutation in the CTSC gene (Hart et al. 2000; 602365.0006) at a highly conserved residue that segregates with the disease. Furthermore, Hart et al. (2000) found a nonsense mutation (602365.0007) at the same codon in a Turkish family with PLS, confirming that HMS and PLS are allelic.

Haim and Munk (1965), Smith and Rosenzweig (1967), and later Puliyel and Sridharan Iyer (1986) described a rare syndrome with congenital palmoplantar keratosis, pes planus, onychogryphosis, periodontitis, arachnodactyly, and acroosteolysis in members of a small community of Jews from Cochin, India. Although the condition is reminiscent of Papillon-Lefevre syndrome, the involvement of the nails and other associated features suggest that it is a distinct disorder. Puliyel and Sridharan Iyer (1986) noted that the patients reported by Smith and Rosenzweig (1967) were related to the patients of Haim and Munk (1965). Hacham-Zadeh et al. (1978) also referred to the disorder as Papillon-Lefevre syndrome. Hart et al (1997) compared and contrasted Papillon-Lefevre syndrome and Haim-Munk syndrome. In both syndromes, there is severe early-onset periodontitis with loss of both teeth, palmoplantar keratosis, and autosomal recessive inheritance. In PLS, there is also calcification of the dura mater and increased susceptibility to infection. Haim-Munk syndrome also has arachnodactyly, acroosteolysis, and onychogryphosis. Both conditions combine severe periodontitis with palmoplantar hyperkeratosis.

Mutations in the CTSC gene cause Papillon-Lefevre syndrome (245000) and aggressive periodontitis-1 (170650).

1. Giannetti L et al (2020) Papillon-Lefèvre syndrome: oral aspects and treatment. Dermatol Ther 33:e13336.
2. Hacham-Zadeh S et al (1978) A genetic analysis of the Papillon-Lefevre syndrome in a Jewish family from Cochin. Am J Med Genet 2: 153-157.
3. Haim S, Munk J (1965) Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and peculiar deformity of the terminal phalanges. Brit J Derm 77: 42-54.
4. Hart TC et al (2001) Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. J Med Genet 37: 88-94.
5. Hart TC et al (1997) Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. J Periodont Res 32: 81-89.
6. Puliyel JM et al (1986) A syndrome of keratosis palmo-plantaris congenita, pes planus, onychogryphosis, periodontosis, arachnodactyly and a peculiar acro-osteolysis. Brit J Derm 115: 243-248.
7. Smith P et al (1967) Seven cases of Papillon-Lefevre syndrome. Periodontics 5: 42-46.