Schöpf-Schulz-Passarge syndrome: Further delineation of the phenotype and genetic considerations

Marco Castori, Salvatore Ruggieri, Luca Giannetti, Giorgio Annessi, Giovanna Zambruno

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

Schöpf-Schutz-Passarge syndrome is a rare ectodermal dysplasia, characterized chiefly by multiple eyelid apocrine hidrocystomas, palmo-plantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. The clinical spectrum and the most likely inheritance pattern(s) have not yet been completely defined. We report here on two, unrelated patients presenting with additional, previously unreported features, including hypoplastic nipples and optic atrophy. Both individuals were born to consanguineous parents, and one also has affected siblings. A literature review identified 23 additional cases. Multiple eyelid apocrine hidrocystomas, described in all of the cases, are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumours in 44% of affected subjects indicates that Schöpf-Schulz-Passarge is a genodermatosis with skin appendage neoplasms. However, the risk of skin and visceral malignancies is not increased. Pedigree study demonstrates that 9 of the 13 published familial cases may be explained by an autosomal recessive mutation, while the remaining pedigrees show apparent vertical transmission compatible with genetic heterogeneity. The benign disease course and advanced age at diagnosis could also suggest locus homogeneity for a recessive mutation with instances of pseudodominant inheritance.

Original languageEnglish
Pages (from-to)607-612
Number of pages6
JournalActa Dermato-Venereologica
Volume88
Issue number6
DOIs
Publication statusPublished - 2008

Fingerprint

Hidrocystoma
Eyelids
Pedigree
Hypotrichosis
Anodontia
Ectodermal Dysplasia
Phenotype
Optic Atrophy
Inheritance Patterns
Skin
Mutation
Genetic Heterogeneity
Nipples
Skin Neoplasms
Nails
adulthood
Siblings
Neoplasms
parents
Parents

Keywords

  • Autosomal recessive
  • Ectodermal dysplasia
  • Genodermatosis
  • Skin appendages
  • Tricho-odonto-onycho-dermal dysplasia
  • Tumour predisposition

ASJC Scopus subject areas

  • Dermatology

Cite this

Schöpf-Schulz-Passarge syndrome : Further delineation of the phenotype and genetic considerations. / Castori, Marco; Ruggieri, Salvatore; Giannetti, Luca; Annessi, Giorgio; Zambruno, Giovanna.

In: Acta Dermato-Venereologica, Vol. 88, No. 6, 2008, p. 607-612.

Research output: Contribution to journalArticle

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