Haim-Munk Syndrome

At a glance

Haim-Munk Syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, pyogenic skin lesions, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acroosteolysis.

Synonyms

Keratosis Palmoplantaris with Periodontopathia and Onychogryphosis; Cochin Jewish Disorder.

History

It is a genetic disorder that was first described by S. Haim and J. Munk in 1965.

Incidence

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

Genetic inheritance

Autosomal recessive.

Pathophysiology

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

Pathophysiology

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

Clinical aspects

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

Precautions before anesthesia

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

Anesthetic considerations

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

Pharmacological implications

Prophylactic antibiotics may be adapted to infectious status.

Other conditions to be considered

• ☞Papillon-Lefevre 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 onychogryphosis. 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.

• Prepubertal Periodontitis (PP): The onset of PP is during or immediately after eruption of the primary teeth. This clinical entity has an unknown prevalence; however, it is believed to be rare. This medical ...