Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation
Papillon–Lefevre syndrome is a rare autosomal recessive type of syndromic palmoplantar keratoderma, associated with ectodermal dysplasia. It is also known as keratoderma with periodontitis. This condition can cause irreversible loss of dentition with onset in early childhood and predispose to recurr...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Clinical Dermatology Review |
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| Online Access: | https://journals.lww.com/10.4103/cdr.cdr_60_24 |
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| author | Sanjanaa Srinivasa Sumedha Ballal Preetha Tilak Savitha Murali Madhukara Jithendriya |
| author_facet | Sanjanaa Srinivasa Sumedha Ballal Preetha Tilak Savitha Murali Madhukara Jithendriya |
| author_sort | Sanjanaa Srinivasa |
| collection | DOAJ |
| description | Papillon–Lefevre syndrome is a rare autosomal recessive type of syndromic palmoplantar keratoderma, associated with ectodermal dysplasia. It is also known as keratoderma with periodontitis. This condition can cause irreversible loss of dentition with onset in early childhood and predispose to recurrent systemic infections. The characteristic clinical features include transgradient palmoplantar keratoderma along with psoriasiform plaques on the knees and elbows, periodontitis, gingivitis, and loss of teeth. There are few reports of this rare condition worldwide. Here, we report the case of a 45-year-old male, born to a third-degree consanguineous marriage, presenting with hyperkeratotic lesions on palms, soles, and knees from 1 year of age, followed by attrition of teeth from 7 years of age and loss of all teeth by the age of 18 years. Genetic analysis revealed a rare mutation in the cathepsin C gene. |
| format | Article |
| id | doaj-art-8e33d175e9784c0285369da05dfc0bef |
| institution | Kabale University |
| issn | 2542-551X 2542-5528 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Clinical Dermatology Review |
| spelling | doaj-art-8e33d175e9784c0285369da05dfc0bef2025-02-06T05:07:41ZengWolters Kluwer Medknow PublicationsClinical Dermatology Review2542-551X2542-55282025-01-0191798210.4103/cdr.cdr_60_24Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique MutationSanjanaa SrinivasaSumedha BallalPreetha TilakSavitha MuraliMadhukara JithendriyaPapillon–Lefevre syndrome is a rare autosomal recessive type of syndromic palmoplantar keratoderma, associated with ectodermal dysplasia. It is also known as keratoderma with periodontitis. This condition can cause irreversible loss of dentition with onset in early childhood and predispose to recurrent systemic infections. The characteristic clinical features include transgradient palmoplantar keratoderma along with psoriasiform plaques on the knees and elbows, periodontitis, gingivitis, and loss of teeth. There are few reports of this rare condition worldwide. Here, we report the case of a 45-year-old male, born to a third-degree consanguineous marriage, presenting with hyperkeratotic lesions on palms, soles, and knees from 1 year of age, followed by attrition of teeth from 7 years of age and loss of all teeth by the age of 18 years. Genetic analysis revealed a rare mutation in the cathepsin C gene.https://journals.lww.com/10.4103/cdr.cdr_60_24cathepsin c gene mutationgenetic testingpalmoplantar keratodermapapillon–lefevre syndromeperiodontitis |
| spellingShingle | Sanjanaa Srinivasa Sumedha Ballal Preetha Tilak Savitha Murali Madhukara Jithendriya Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation Clinical Dermatology Review cathepsin c gene mutation genetic testing palmoplantar keratoderma papillon–lefevre syndrome periodontitis |
| title | Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation |
| title_full | Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation |
| title_fullStr | Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation |
| title_full_unstemmed | Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation |
| title_short | Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation |
| title_sort | beyond the common causes of palmoplantar keratoderma papillon lefevre syndrome with a unique mutation |
| topic | cathepsin c gene mutation genetic testing palmoplantar keratoderma papillon–lefevre syndrome periodontitis |
| url | https://journals.lww.com/10.4103/cdr.cdr_60_24 |
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