J Pediatr Genet 2017; 06(04): 238-240
DOI: 10.1055/s-0037-1602801
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon–Lefèvre Syndrome?

Mostafa Ibrahim Mostafa
1   Division of Human Genetics and Genome Research, Department of Oro-Dental Genetics, National Research Centre, Cairo, Egypt
,
Maha Rashed Abouzaid
1   Division of Human Genetics and Genome Research, Department of Oro-Dental Genetics, National Research Centre, Cairo, Egypt
,
Manal Micheal Thomas
2   Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt
,
Ghada Yousef El-Kamah
2   Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt
› Author Affiliations
Further Information

Publication History

05 November 2016

05 April 2017

Publication Date:
02 May 2017 (online)

Abstract

Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles. Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder of decreased pain sensation, decreased sweating, recurrent infections, and fever. Here, we report a 5-year-old girl born to consanguineous parents with a family history of a similarly affected sibling. The girl presented with early loss of teeth and palmoplantar hyperkeratosis, hence, provisionally diagnosed as PLS. Further clinical examination and detailed history taking shifted the diagnosis to CIPA. CIPA could be misdiagnosed as PLS. Congenital insensitivity to pain with anhidrosis, although rare, should be considered in the differential diagnosis of PLS.

Funding

This work was performed under the annual research fund for the National Research Centre.


 
  • References

  • 1 Haneke E. The Papillon-Lefèvre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. Hum Genet 1979; 51 (01) 1-35
  • 2 Fantasia JE. Syndromes with unusual dental findings or gingival components. Atlas Oral Maxillofac Surg Clin North Am 2014; 22 (02) 211-219
  • 3 Gorlin RJ, Sedano H, Anderson VE. The syndrome of palmar-planter hyperkeratosis and premature periodontal destruction of the teeth. A clinical and genetic analysis of Papillon-Lefèvre syndrome. J Pediatr 1964; 65: 895-908
  • 4 de Haar SF, Jansen DC, Schoenmaker T, De Vree H, Everts V, Beertsen W. Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs. Hum Mutat 2004; 23 (05) 524 . Doi: 10.1002/humu.9243
  • 5 Pham CT, Ivanovich JL, Raptis SZ, Zehnbauer B, Ley TJ. Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. J Immunol 2004; 173 (12) 7277-7281
  • 6 Romero-Quintana JG, Frías-Castro LO, Arámbula-Meraz E. , et al. Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients. BMC Med Genet 2013; 14: 7 . Doi: 10.1186/1471-2350-14-7
  • 7 Nagasako EM, Oaklander AL, Dworkin RH. Congenital insensitivity to pain: an update. Pain 2003; 101 (03) 213-219
  • 8 Daneshjou K, Jafarieh H, Raaeskarami SR. Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases. Iran J Pediatr 2012; 22 (03) 412-416
  • 9 Bar-On E, Weigl D, Parvari R, Katz K, Weitz R, Steinberg T. Congenital insensitivity to pain. Orthopaedic manifestations. J Bone Joint Surg Br 2002; 84 (02) 252-257
  • 10 Schalka MM, Corrêa MS, Ciamponi AL. Congenital insensitivity-to-pain with anhidrosis (CIPA): a case report with 4-year follow-up. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006; 101 (06) 769-773
  • 11 Mardy S, Miura Y, Endo F, Matsuda I, Indo Y. Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. Hum Mol Genet 2001; 10 (03) 179-188
  • 12 Sachdeva S, Kalra N, Kapoor P. Papillon- Lefèvre Syndrome: Report of a case and its management. J Clin Exp Dent 2012; 4 (01) e77-e81
  • 13 Haim S, Munk J. Keratosis palmo-plantaris congenita, with periodontosis, archnodactyly and a peculiar deformity of the terminal phalanges. Br J Dermatol 1965; 77: 42-54
  • 14 Axelrod FB, Kaufmann H. Hereditary sensory and autonomic neuropathies. In: Basil T, Darras H, Royden Jr Jones, Ryan MM, De Vivo DC. , eds. Neuromuscular Disorders of Infancy, Childhood and Adolescence. A Clinician's Approach. 2nd ed. Oxford United Kingdom: Academic Press; 2015: 340-352
  • 15 Amano A, Akiyama S, Ikeda M, Morisaki I. Oral manifestations of hereditary sensory and autonomic neuropathy type IV. Congenital insensitivity to pain with anhidrosis. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1998; 86 (04) 425-431
  • 16 Bodner L, Woldenberg Y, Pinsk V, Levy J. Orofacial manifestations of congenital insensitivity to pain with anhidrosis: a report of 24 cases. ASDC J Dent Child 2002; 69 (03) 293-296 , 235
  • 17 Kumar BP, Sudhakar S, Prabhat MPV. Case report: congenital insensitivity to pain. Online J Health Allied Sci 2010; 9 (04) 1-3
  • 18 Pinsky L, DiGeorge AM. Congenital familial sensory neuropathy with anhidrosis. J Pediatr 1966; 68 (01) 1-13
  • 19 Axelrod FB, Hilz MJ. Inherited autonomic neuropathies. Semin Neurol 2003; 23 (04) 381-390