A number sign (#) is used with this entry because of evidence that Haim-Munk syndrome (HMS) is caused by homozygous mutation in the gene encoding. Haim–Munk syndrome is a cutaneous condition caused, like Papillon-Lefevre Syndrome, by a mutation in the cathepsin C gene. It is named after Dr. Salim Haim. Abstract. Of the many palmoplantar keratoderma (PPK) conditions, only Papillon- Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with.

Author: Dolrajas Terr
Country: Russian Federation
Language: English (Spanish)
Genre: Life
Published (Last): 6 February 2006
Pages: 415
PDF File Size: 2.14 Mb
ePub File Size: 14.77 Mb
ISBN: 514-2-49493-422-2
Downloads: 14952
Price: Free* [*Free Regsitration Required]
Uploader: Faurg

The patient was referred to the department of dermatology, for the treatment of skin lesions. Note severe hyperkeratosis of a palms, b soles synndrome c elbow.

Haim-Munk Syndrome – NORD (National Organization for Rare Disorders)

Haim—Munk syndrome is an inherited autosomal recessive trait. The treatment of Haim-Munk syndrome is directed toward mukn specific symptoms that are apparent in each individual.

According to the medical literature, parents of hami individuals with Haim-Munk syndrome have been closely related by blood consanguineous. Author information Article notes Copyright and License information Disclaimer.

Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X munm Y chromosomes for males and two X chromosomes for females. Hart et al ,[ 8 ] distinguished HMS as a separate disorder owing to the presence of onychogryphosis, arachnodactyly, acro-osteolysis and pes planus.


Haim-Munk syndrome

Superficial palmar biopsy revealed marked hyperkeratosis with focal mynk and acanthotic epidermis [ Figure 5 ]. The patient had a history of recurrent skin infections. In lateral projection of feet [ Figure 8 ], the line of the first metatarsal made an angle instead of coinciding with the midtalar line revealing that the proband had flat feet.

The pattern was entirely consistent with autosomal recessive inheritance. In individuals with Haim-Munk syndrome, the teeth usually appear to form and erupt normally. Priyanka Pahwa,S.

Haim-Munk syndrome

While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. It has been reported that Inflammation associated with the arthritis caused by HMS can be controlled by removal of the synovial tissue surrounding affected joints synovectomyat the cost of permanent handicap.

Retrieved from ” https: Jadassohn-Lewandowsky type pachyonychia congenita is thought to be inherited as an autosomal dominant trait.

The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. How to cite this article: The cathepsin C gene is expressed in epithelial regions such as palms, soles, knees and keratinized oral gingiva.

A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. Comparisons may be useful for a differential diagnosis:.


A homozygous cathepsin C mutation associated with Haim-Munk syndrome. J Munk, [2] who first described the disease in Related Disorders Symptoms of the following disorders may be similar to synrome of Haim-Munk syndrome.

Report of a case and review of the cases in the literature. Keratosis palmoplantaris with periodontopathy: J Indian Soc Periodontol. OPG [ Figure 6 ] of the patient showed severe alveolar bone loss in relation to the existing syndrrome teeth.

Haim–Munk syndrome

The periodontium in HMS is thought to be less severely affected than in PLS,[ 9 ] therefore early diagnosis can aid in early intervention to retain teeth for longer; as reported in the proband, majority of the permanent teeth were in functional condition at age By the age of five years, the deciduous teeth often may become loose and fall out.

Affected individuals also may have frequently recurring, pus-producing pyogenic skin infections.

However, in some cases, hyperkeratosis may be present at birth congenital. Nil Conflict of Interest: The line of the first metatarsal makes an angle instead of coinciding with the midtalar line.