Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings
Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease c...
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| Veröffentlicht in: | Journal of the American Academy of Dermatology 2008-02, Vol.58 (2), p.339-344 |
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| container_title | Journal of the American Academy of Dermatology |
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| creator | Janjua, Shahbaz A., MD Iftikhar, Nadia, MRCP, FCPS Hussain, Ijaz, FCPS Khachemoune, Amor, MD, CWS |
| description | Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, Papillon-Lefèvre syndrome and prepubertal periodontitis. |
| doi_str_mv | 10.1016/j.jaad.2007.08.004 |
| format | Article |
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| identifier | ISSN: 0190-9622 |
| ispartof | Journal of the American Academy of Dermatology, 2008-02, Vol.58 (2), p.339-344 |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Adolescent Adult Biological and medical sciences Bone Diseases, Developmental - pathology Cathepsin C - genetics Consanguinity Dermatology Dyskeratosis Facial bones, jaws, teeth, parodontium: diseases, semeiology Female Humans Keratoderma, Palmoplantar - genetics Keratoderma, Palmoplantar - pathology Male Medical sciences Otorhinolaryngology. Stomatology Papillon-Lefevre Disease Periodontal Diseases - pathology Syndrome |
| title | Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings |
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