Papillon Lefevre syndrome

A 12-year-old female patient presented with chief complaint of severe bleeding of gingiva and foul breath. Medical history was noncontributory with normal physical and mental development. She lost all her deciduous teeth by 5 years of age and the permanent teeth started loosening at 8 years of age, till date there is no loss of any permanent teeth. Intraoral clinical examination revealed presence of severe destructive periodontitis of all the teeth (Figure 1A). Panoramic view showed severe generalized loss of alveolar bone around all the present teeth. Dermatological examination revealed well-demarcated, brownish, hyperkeratotic areas with crustations and fissuring affecting the skin on the palmar surface of her hands and on plantar surface of her feet (Figure 1B). Severe bone loss at such a young age was found to be abnormal so a genetic analysis was carried out utilizing peripheral blood sample and subjecting it to polymerase chain reaction which revealed a mutation in CTSC gene which encodes cathepsin C. Differential diagnosis consisted of Haim-Munk syndrome and Papillon Lefevre syndrome. Haim-Munk syndrome shows symptoms such as arachnodactyly, acroosteolysis and onychogryphosis and absent in our patient which lead us to final diagnosis of Papillon Lefevre syndrome. Dental treatment consisted of systemic amoxicillin (500 mg, thrice daily) and metronidazole (400 mg, thrice daily) for 1 week along with patient education for oral hygiene followed by full mouth periodontal flap surgery. Dermatological treatment consisted of systemic acetretin (25 mg) every alternate day for 4 months and intermittent Psoralen and Ultraviolet A therapy (8-methoxypsoralen taken by oral cavity followed 45–60 min later by exposure of the skin to ultraviolet A), 20 treatments were given 3 days apart. Patient is asymptomatic at 1 year of follow-up.

from # All Medicine by Alexandros G. Sfakianakis via alkiviadis.1961 on Inoreader http://ift.tt/2vc7OGL