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1.
Am J Med Genet A ; 182(2): 296-302, 2020 02.
Article in English | MEDLINE | ID: mdl-31846207

ABSTRACT

Haim-Munk syndrome (HMS) and Papillon-Lefevre syndrome (PLS) are phenotypic variants of palmoplantar keratoderma (PPK) with progressive early-onset periodontitis and dental caries. HMS and PLS have been associated with homozygous or compound heterozygous mutations in the lysosomal protease gene Cathepsin C (CTSC). There have been only a few documented cases of CTSC mutations in patients from South-East Asia. We report the clinical findings of two Cambodian brothers who presented with diffuse, demarcated PPK with transgrediens extending to the elbows and knees, as well as pachyonychia and dental caries. Arachnodactyly and periodontitis were also found in the older brother. Next-generation sequencing unveiled a homozygous missense variant in CTSC (NM_001814.5: c.1337AC: p.(Asp446Ala)) in both brothers. Both parents were heterozygous for the variant, while an unaffected older brother was homozygous for the wild-type allele. Our study adds to the spectrum of mutations and associated clinical presentations for this rare genodermatosis.


Subject(s)
Acro-Osteolysis/genetics , Cathepsin C/genetics , Keratoderma, Palmoplantar/genetics , Papillon-Lefevre Disease/genetics , Acro-Osteolysis/diagnostic imaging , Acro-Osteolysis/epidemiology , Acro-Osteolysis/physiopathology , Adolescent , Cambodia/epidemiology , Child , Female , Homozygote , Humans , Keratoderma, Palmoplantar/diagnostic imaging , Keratoderma, Palmoplantar/epidemiology , Keratoderma, Palmoplantar/physiopathology , Male , Mutation/genetics , Papillon-Lefevre Disease/diagnostic imaging , Papillon-Lefevre Disease/epidemiology , Papillon-Lefevre Disease/physiopathology , Pedigree , Siblings
2.
Iran J Immunol ; 5(3): 171-6, 2008 Sep.
Article in English | MEDLINE | ID: mdl-18791284

ABSTRACT

BACKGROUND: Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early development of aggressive periodontitis. Although cathepsin C (CTSC) gene mutations have been established in about 70-80% of PLS patients, it is assumed that the patients may have dysfunctioning of immune defense mechanisms. OBJECTIVE: To assess the association of HLA class II genes and PLS. METHODS: HLA class II genes were typed in nine Iranian PLS patients and their family members and the results were compared to 816 Iranian healthy subjects. RESULTS: The results of this study revealed that DRB1*0101 and DRB1*0301 alleles were more frequent in PLS patients than in normal controls. However, there was no significant difference between PLS patients and normal controls. Moreover, the same haplotypes and genotype combinations were also observed in some patients and their healthy siblings. CONCLUSION: The results of this study showed no strong association between HLA class II alleles and PLS.


Subject(s)
HLA-DQ Antigens/genetics , HLA-DR Antigens/genetics , Leukocytes/immunology , Papillon-Lefevre Disease/genetics , Polymorphism, Genetic , Adolescent , Family , Female , Gene Frequency , HLA-DQ alpha-Chains , HLA-DQ beta-Chains , HLA-DRB1 Chains , Haplotypes , Histocompatibility Testing , Humans , Iran/epidemiology , Male , Papillon-Lefevre Disease/epidemiology , Papillon-Lefevre Disease/immunology
3.
J Am Acad Dermatol ; 48(3): 345-51, 2003 Mar.
Article in English | MEDLINE | ID: mdl-12637913

ABSTRACT

Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early development of aggressive periodontal infection. The aims of this study were to rank the severity of dermatologic and oral affections using a semiquantitative scoring system, and to evaluate whether the severity of the dermatologic changes were correlated to age, degree of periodontal infection, or both. The study included 47 patients with Papillon-Lefèvre syndrome. With no exception both skin and oral changes developed early in life. The dermatologic involvement showed no correlation with age, whereas the periodontal infection was significantly worse in young children with deciduous teeth. A strong correlation was found between the condition of feet and hands, although the scores for the feet were significantly higher. No significant correlation could be demonstrated between the level of periodontal infection and severity of skin affections, supporting the concept that these 2 major components of Papillon-Lefèvre syndrome are unrelated to each other.


Subject(s)
Papillon-Lefevre Disease/diagnosis , Periodontal Diseases/diagnosis , Psoriasis/diagnosis , Quality of Life , Severity of Illness Index , Adolescent , Adult , Age Distribution , Child , Child, Preschool , Cohort Studies , Female , Humans , Incidence , Male , Papillon-Lefevre Disease/epidemiology , Papillon-Lefevre Disease/therapy , Periodontal Diseases/epidemiology , Periodontal Diseases/therapy , Probability , Prognosis , Psoriasis/epidemiology , Psoriasis/therapy , Risk Assessment , Sex Distribution , Sickness Impact Profile
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