2: Developmental and Congenital Conditions

2 Developmental and Congenital Conditions

Diffuse White Lesions

Diffuse white developmental conditions are often dyskeratotic lesions and represent oral manifestations of genodermatoses. Oral lesions seen in dyskeratosis congenita are usually oral dysplasias/leukoplakias; oral lesions of pachyonychia congenita are rarely biopsied. Oral lesions of hereditary mucoepithelial dysplasia, a condition of defective expression of cytoskeleton-junctional elements, presents as erythematous mucosa.

White Sponge Nevus (Cannon White Sponge Nevus)


Aloi FG, Molinero A. White sponge nevus with epidermolytic changes. Dermatologica. 1988;177:323-326.

Atkinson JC, Harvey KE, Domingo DL, et al. Oral and dental phenotype of dyskeratosis congenita. Oral Dis. 2008;14:419-427.

Boralevi F, Haftek M, Vabres P, et al. Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review. Br J Dermatol. 2005;153:310-318.

Lourenco SV, Boggio PA, Fezzi FA, et al. Dyskeratosis congenita—report of a case with emphasis on gingival aspects. Pediatr Dermatol. 2009;26:176-179.

Morris R, Gansler TS, Rudisil MT, Neville B. White sponge nevus. Diagnosis by light microscopic and ultrastructural cytology. Acta Cytologica. 1988;32:357-361.

Otobe IF, de Sousa SO, Matthews RW, Migliari DA. White sponge naevus: improvement with tetracycline mouth rinse: report of four cases. Clin Exp Dermatol. 2007;32:749-751.

Pradeep AR, Nagaraja C. Pachyonychia congenita with unusual dental findings: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;104:89-93.

Rugg EL, McLean WH, Allison WE, et al. A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. Nat Genetics. 1995;11:450-452.

Terrinoni A, Candi E, Oddi S, et al. A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. J Invest Dermatol. 2000;114:388-391.

Treister N, Lehmann LE, Cherrick I, et al. Dyskeratosis congenita vs. chronic graft versus host disease: report of a case and a review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004;98:566-571.

Witkop CJJr, White JG, King RA, et al. Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. Am J Hum Genet. 1979;31:414-427.

Hereditary Benign Intraepithelial Dyskeratosis

Darier Disease (Keratosis Follicularis) and Warty Dyskeratoma

Nodular or Tumor-Like Lesions

Fordyce Granules, Sebaceous Hyperplasia, and Adenoma

Jan 12, 2015 | Posted by in Oral and Maxillofacial Pathology | Comments Off on 2: Developmental and Congenital Conditions
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