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 language | English |
|---|---|
| Pages (from-to) | 607-612 |
| Number of pages | 6 |
| Journal | Acta Dermato-Venereologica |
| Volume | 88 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - 2008 |
Fingerprint
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 journal › Article
}
TY - JOUR
T1 - Schöpf-Schulz-Passarge syndrome
T2 - Further delineation of the phenotype and genetic considerations
AU - Castori, Marco
AU - Ruggieri, Salvatore
AU - Giannetti, Luca
AU - Annessi, Giorgio
AU - Zambruno, Giovanna
PY - 2008
Y1 - 2008
N2 - 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.
AB - 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.
KW - Autosomal recessive
KW - Ectodermal dysplasia
KW - Genodermatosis
KW - Skin appendages
KW - Tricho-odonto-onycho-dermal dysplasia
KW - Tumour predisposition
UR - http://www.scopus.com/inward/record.url?scp=56749144138&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=56749144138&partnerID=8YFLogxK
U2 - 10.2340/00015555-0547
DO - 10.2340/00015555-0547
M3 - Article
C2 - 19002348
AN - SCOPUS:56749144138
VL - 88
SP - 607
EP - 612
JO - Acta Borealia
JF - Acta Borealia
SN - 0001-5555
IS - 6
ER -