In:
The Journal of Dermatology, Wiley, Vol. 48, No. 4 ( 2021-04), p. 537-541
Abstract:
Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive genodermatosis characterized by palmoplantar keratoderma and severe periodontitis leading to premature loss of primary and permanent teeth. PLS is caused by loss‐of‐function mutations in CTSC , lacking functional cathepsin C, which impairs the activation of neutrophil serine proteases. Precise pathogenesis of periodontal damage is unknown. Patient 1 presented with well‐demarcated, transgredient, diffuse, palmoplantar keratoderma and psoriasiform lesions from the age of 2 years. Based on severe and recurrent periodontal inflammation, his dentist had diagnosed PLS at the age of 3 years and provided a strict oral hygiene regimen with repeated adjunct antibiotic therapies. Oral acitretin 10 mg/day along with tretinoin ointment at the age of 9 greatly improved palmoplantar keratoderma. Aged 18 years, the patient exhibited an intact permanent dentition and absence of periodontal disease. Patient 2, a 30‐year‐old man, suffered from transgredient, diffuse, palmoplantar keratoderma with fissuring from the age of 2 months, marked psoriasiform plaques on elbows and knees, and nail dystrophy. Intriguingly, without specific dental treatment, teeth and dental records were unremarkable. He was referred with a suspected diagnosis of psoriasis. Both patients were otherwise healthy, blood tests and sonography of internal organs were within normal limits. Panel sequencing revealed loss‐of‐function mutations in CTSC , c.322A 〉 T (p.Lys108Ter) and c.504C 〉 G (p.Tyr168Ter) in patient 1 and homozygous c.415G 〉 T (p.Gly139Ter) in patient 2. The final diagnosis of unusual PLS was made. PLS should be considered in palmoplantar keratoderma lacking periodontitis or tooth loss.
Type of Medium:
Online Resource
ISSN:
0385-2407
,
1346-8138
DOI:
10.1111/1346-8138.15720
Language:
English
Publisher:
Wiley
Publication Date:
2021
detail.hit.zdb_id:
2222121-9
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