Title: Schopf-Schulz-Passarge Syndrome: a Case Report on Rare Ectodermal Dysplasia

Authors: Abhishek Thakur, Ravinder Singh, Dilbag Singh, Shikha Verma

 DOI: https://dx.doi.org/10.18535/jmscr/v8i6.57

Abstract

Schopf–Schulz–Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy and multiple periocular and eyelid apocrine hidrocystomas. A 23-year-old female presented with eyelid hidrocystomas, palmoplantar keratoderma, nail dystrophy and thin scalp hair. Skin biopsy was consistent with apocrine hidrocystoma. The patient was diagnosed with SSPS.

References

  1. Itin PH, Fistarol SK (2004) Ectodermal dysplasias. Am J Med Genet C Semin Med Genet 131:45–51.
  2. Schopf E, Schulz HJ, Passarge E. Syndrome of cystic eyelids,palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects Orig Artic Ser 1971; 7: 219–221.
  3. Freie-Maia N, Pinheiro M, editors. Ectodermal dysplasias: a clinical and genetic study. New York: Alan R. Liss, 1984.
  4. Küster W, Hammerstein W. Schöpf syndrome. Clinical, genetic and lipid biochemical studies. Hautarzt 1992; 43:763–766.
  5. Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G. Schopf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations. Acta Derm Venereol 2008; 88: 607–612.
  6. Schopf E, Schulz HJ, Passarge E. Syndrome of cystic eyelids, palmo-plantarkeratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects Orig Artic Ser 1971;7:219-21.
  7. Hampton PJ, Angus B, Carmichael AJ. A case of Schöpf–Schulz–Passarge syndrome. Clin Exp Dermatol 2005;30:528-30.
  8. Monk BE, Pieris S, Soni V. Schöpf-Schulz-Passarge syndrome. Br J Dermatol 1992; 127: 33–35.
  9. Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G. Schöpf-Schulz-Passarge syndrome: Further delineation of the phenotype and genetic considerations. Acta Derm Venereol 2008;88:607-12
  10. Perret C. Schöpf syndrome. Br J Dermatol 1989; 120: 131–132.
  11. Bohring, A., Stamm, T., Spaich, C., Haase, C., Spree, K., Hehr, U., Hoffmann, M., Ledig, S., Sel, S., Wieacker, P., Ropke, A. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. J. Hum. Genet.2009; 85: 97-105. 

Corresponding Author

Ravinder Singh

Medical Officer, Dermatology DR RKGMC Hamirpur H.P India