Abstract Papillon-Lefèvre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained by dentists because of the severe periodontitis that afflicts patients. [ncbi.nlm.nih.gov]

AB - Papillon-Lefevre syndrome, or keratosis palmoplantaris with periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained by dentists because of the severe periodontitis that afflicts patients(1,2). [pure.qub.ac.uk]

It is important for dentists to be aware that clues to diagnosis can be gained from examination of the hands and feet, in addition to an oral examination, particularly in recognizing oral genetic disorders. [dental-update.co.uk]

Dentists play an important role in diagnosis considering it is a disease with severe oral manifestations; When making diagnosis, the clinical examination should be detailed, ordered and complete. [clinicadavilla.com.br]

The term ichthyosis (Gr. ichthys, fish) is applied to a number of heterogenous genetic disorders characterized by permanent and generalized abnormal keratinization. 1, 2 The clinical features range from mild involvement, often passed off as ‘dry skin’ [basicmedicalkey.com]

All patients with cardiac signs and symptoms showed echocardiographic enlargement of the right ventricle and a right ventricular band; in three the left ventricle was also affected. [ncbi.nlm.nih.gov]

Cardiomegaly on chest x ray and electrocardiographic abnormalities were common findings. Three cases had episodes of ventricular tachycardia and a fourth patient died suddenly. [ncbi.nlm.nih.gov]

JLS-1 is characterized by nail hypertrophy, nail dystrophy, PPK, follicular keratosis and oral leukokeratosis and is the most common form of PC (56.2%). [4] JLS-2 usually lacks oral leukokeratosis and is commonly associated with epidermolytic bullae of [faoj.org]

Huriez syndrome Huriez syndrome is an autosomal dominant genodermatosis, characterized by the triad of congenital scleroatrophy of the distal extremities, PPK, and hypoplastic nail changes. The soles are not commonly involved. [intechopen.com]

impairment Spasticity Cleft palate Gait disturbance Ptosis Strabismus Nystagmus Lobular carcinoma in situ Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Optic atrophy Ventricular septal defect Dysplastic gangliocytoma of the [mendelian.co]

Cardiomegaly on chest x ray and electrocardiographic abnormalities were common findings. Three cases had episodes of ventricular tachycardia and a fourth patient died suddenly. [ncbi.nlm.nih.gov]