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Rare syndrome characterized by the development of palmoplantar hyperkeratosis, pyogenic skin lesions, onychogryposis, and degeneration of the periodontosis.

Keratosis Palmoplantaris with Periodontopathia and Onychogryposis; Cochin Jewish Disorder.

Genetic disorder first described by S. Haim and J. Munk in 1965.

Rare syndrome; only reported in a small community of Jews from Cochin, India.

Autosomal recessive.

Caused by mutations in the gene encoding cathepsin C (CTSC). Gene mapped on 11q14.1-q14. Allelic with Papillon-Lefèvre syndrome.

Evocated in patients combining hyperkeratosis, skin lesions, onychogryposis, and periodontodysplasia, particularly if patients come from the Cochin area.

Features involve skin (congenital keratosis palmoplantaris, onychogryposis), teeth (periodontosis, anodontia, oligodontia), and skeleton (pes planus, arachnodactyly, acroosteolysis). Frequent skin infections.

Evaluate skeletal involvement (history, clinical, radiographs), teeth lesions (clinical, radiographs), and skin lesions. The investigation must include electrolytes and calcium levels.

Care with tracheal intubation because of possibility of teeth lesions. Strict asepsis is needed because of skin infections.

Prophylactic antibiotics may be adapted to infectious status.

Papillon-Lefèvre Syndrome: Characterized by the presence of palmar-plantar hyperkeratosis, periodontium, and periodontoclasia. Additional clinical features may include pyogenic skin infections, nail dystrophy, and hyperhidrosis. It is inherited as an autosomal recessive trait. There is some evidence that Papillon-Lefevre syndrome may result from certain mutations of the same gene responsible for Cochin-Jewish disorder.

Schopf-Schulz-Passarge Syndrome: Characterized by the presence of palmar-plantar hyperkeratosis, fragile nails, hypodontia, hypotrichosis, and development of cysts on the eyelids. It is thought to be inherited as an autosomal dominant trait.

Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome): Characterized by palmar-plantar hyperkeratosis and onychogryposis. Other clinical features include neonatal dentition, hypotrichosis, hyperhidrosis of the hands and feet, hoarseness, and potential for respiratory distress. Mental retardation may be present. It is thought to be inherited as an autosomal dominant trait.

Mal de Meleda: Characterized by palmar-plantar hyperkeratosis with unusually red skin that becomes abnormally thick. Affected children may present with abnormal nails, hyperhidrosis associated with an unpleasant odor (bromhidrosis), and lichenoid plaques. It is thought to be inherited as an autosomal recessive trait.

Haim S, Munk J: Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and peculiar deformity of the terminal phalanges. Br J Dermatol 77:42, 1965.  [PubMed: 14252683]
Hart TC, Hart PS, Michalec MD, et al: Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. J Med Genet 37:88, 2000.  [PubMed: 10662807]

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