Papillon lefevre A rare syndrome

Papillon lefevre syndrome (PLS) belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles and presence of severe and early onset periodontitis. Genetic studies have shown that mutation in the major gene locus of chromosome 11q14 with the loss of function of cathepsin C (CTSC) gene is responsible for PLS. Loss of CTSC function is responsible for the severe periodontal destruction seen clinically. This report represents classical signs and symptoms of PLS in a 6 year old girl.

Papillon-Lefèvre syndrome: a case report and mutation analysis of the cathepsin C gene / 中华皮肤科杂志

Objective To analyze mutations in the cathepsin C (CTSC) gene in a patient with Papillon-Lefèvre syndrome (PLS).Methods Clinical data were collected from a patient with PLS.Two milliliters of venous blood samples were obtained from the patient,his parents and 100 unrelated healthy controls separately.DNA was extracted from these blood samples,and PCR was performed to amplify all the 7 exons of the CTSC gene followed by direct DNA sequencing.Results Two heterozygous mutations were observed in the CTSC gene of the patient.One was a novel mutation c.824C ＞ T at position 824 in the exon 6,which resulted in a substitution of ACC (threonine) by ATC (isoleucine) at codon 275 (p.T275I).The other one was the mutation c.1040A ＞ G at position 1040 in the exon 7,causing the substitution of TAT (tyrosine) by TGT (cysteine) at codon 347 (p.Y347C).His father and mother carried the heterozygous mutation c.824C ＞ T and c.1040A ＞ G respectively.Neither of the two mutations was observed in the 100 healthy controls.Conclusions CTSC mutations are responsible for the clinical phenotype of PLS.Identification of the c.824C ＞ T mutation extends the spectrum of mutations in the CTSC gene and provides a basis for genetic diagnosis of PLS.

Haim Munk syndrome: Report of two siblings of Northern India treated with acitretin.

Haim Munk Syndrome (HMS) is the allelic mutation of exon 6 codon in cathepsin C gene. Here, we present two cases of same family with HMS having all the cardinal features of HMS which includes palmo plantar keratoderma and periodontitis along with arachnodactyly, acroosteolysis, onychogryphosis, and marked osteopenia on hand wrist radiographs. Both the siblings were treated with cotrimoxazole, acetretin and topical keratolytics and followed up over a period of one year, showed remarkable improvement in palmo plantar keratoderma and periodontitis.