ABSTRACT
Papillon-Lefevre syndrome is a rare autosomal recessive trait characterised by palmoplantar hyperkeratosis and precocious loss of both deciduous and permanent teeth. The aetiology is multifactorial with genetic, immunological, microbiological factors being considered a main etiopathogenic factors. We present here two cases of two siblings affected with Papillon-Lefevre syndrome.
ABSTRACT
Objective:Mutation in the gap junction beta 6 (GJB6) gene has been reported to be associated with an autosomal dominant disorder hidrotic ectodermal dysplasia (HED), characterized by congenital nail clubbing, alopecia and palmoplantar keratoderma. The aim of this study is to investigate relationship between genetic mutation in GJB6 and HED in an affected Chinese family. Methods:We selected a Chinese HED family consisting of a total of 17 individuals including 8 HED patients (5 males and 3 females). The whole coding region of GJB6 was amplified by polymerase chain reaction and sequenced. Results:Sequence analysis identified a heterozygous missense mutation c.31G>A (p.G11R) in GJB6 gene of affected individuals, but not in healthy individuals. Conclusion:A c.31G>A (p.G11R) missense mutation in GJB6 gene is the genotypic characteristic for HED in Chinese population.
ABSTRACT
Ectodermal Dysplasia (ED) is a hereditary congenital disorder of ectodermal origin. It is characterized by lack of sweat glands, (hypohydrosis), Alopecia (Hypotrichosis), defective palms and soles (Palmoplantar hyper keratosis) and oral presentation of partial absence of teeth, (hypodontia) or complete absence of teeth (anodontia). Hypodontia of primary and permanent dentition is one of the most frequently occurring oral symptoms in ectodermal Dysplasia. We report an unusual case of ectodermal dysplasia effecting soles and palms along with oral manifestations.
ABSTRACT
Keratosis palmoplantaris associated with periodontopathy or Papillon Lefevre syndrome is a very rare genetic disorder with autosomal recessive mode of inheritance and is characterized by hyperkeratosis of the palms and soles and early onset of a severe destructive periodontitis. The clinical presentation, differential diagnosis, therapeutic and periodontal management of an 8-year old male child diagnosed with this syndrome is discussed.
La queratosis palmoplantar asociada con la periodontopatía - también conocida como síndrome de Papillon Léfèvre - es un trastorno genético muy poco común, con un modo de herencia autosómico recesivo. Se caracteriza por la hiperqueratosis de las palmas de las manos y las plantas de los pies y el inicio temprano de una periodontitis destructiva severa. Se analiza la presentación clínica, el diagnóstico diferencial, así como el tratamiento terapéutico y periodontal de un niño de 8 años de edad con este síndrome.
Subject(s)
Child , Humans , Male , Papillon-Lefevre Disease/diagnosis , Diagnosis, Differential , Papillon-Lefevre Disease/therapy , Radiography, PanoramicABSTRACT
The syndrome with knuckle pads, leukonychia, deafness and palmoplantar hyperkeratosis have been presented by several previous reports since the Bart and Pumphrey's report. This syndrome is that inheritance pattern is autosomal dominant trait. We report a case of a family with hereditary progressive palmoplantar hyperkeratosis, which is invariably associated with knuckle pads and a progressive mixed hearing loss. We think that these traits may not be inherited as an autosomal dominant trait because affected members of the family are all female but may be possibly autosomal dominant. The difference with other previous reports is that all members of the family don't have leukonychia. Therefore, we suggest that this is another variant case of this syndrome.
Subject(s)
Female , Humans , Deafness , Hearing Loss , Hearing Loss, Mixed Conductive-Sensorineural , Inheritance PatternsABSTRACT
We observed a family with 12 members in four consecutive generations affected by hereditary epidermolytic palmoplantar keratoderma(HEPPK). The affected family members demonstrated not only autosomal dominant inheritance, but also a high penetrance and constant expression. The lesion of all affected person had developed at birth or within the first few weeks of life. The lesions of three members(the proband, her sister and mother) were biopsed, and all of them showed the characteristic features of epidermolytic hyperkeratosis. Two of family members(the proband, her nephew-not affected by HEPPK) had vitiligo, but we concluded that this coexistance was accidental.
Subject(s)
Humans , Family Characteristics , Hyperkeratosis, Epidermolytic , Keratoderma, Palmoplantar, Epidermolytic , Parturition , Penetrance , Siblings , Vitiligo , WillsABSTRACT
A middle-aged female patient showed long-standing multiple or confluent small hyperkeratotic papules on her palms and soles with subsequent development of well differentiated squamous cell carcinoma on the left sole and poorly differentiated pulmonary carcinoma. Arsenic as a possible etiological factor is discussed.