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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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Clinical Dermatology Review |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/cdr.cdr_60_24 |
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| Summary: | 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. |
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| ISSN: | 2542-551X 2542-5528 |