Schöpf-Schulz-Passarge syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA
SSPS
Eccrine tumors-ectodermal dysplasia
Palmoplantar keratoderma - cystic eyelids - hypodontia - hypotrichosis
Keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis
Palmoplantar hyperkeratosis - cystic eyelids - hypodontia - hypotrichosis
Number of Symptoms 27
OrphanetNr: 50944
OMIM Id: 224750
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 19 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease
Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100615) Ovarian neoplasm Occasional [Orphanet] 25 / 7739
2
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
3
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
4
 (HPO:0000668) Hypodontia 81 / 7739
5
 (HPO:0000320) Bird-like facies 4 / 7739
6
 (HPO:0006323) Premature loss of primary teeth Frequent [Orphanet] 18 / 7739
7
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
8
 (HPO:0000478) Abnormality of the eye 126 / 7739
9
 (HPO:0011313) Narrow nail 1 / 7739
10
 (HPO:0001792) Small nail 55 / 7739
11
 (HPO:0001816) Thin nail 11 / 7739
12
 (HPO:0000982) Palmoplantar keratoderma 40 / 7739
13
 (HPO:0001807) Ridged nail 20 / 7739
14
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
15
 (HPO:0002671) Basal cell carcinoma 18 / 7739
16
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
17
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
18
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
19
 (HPO:0004528) Generalized hypotrichosis 18 / 7739
20
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
21
 (HPO:0001806) Onycholysis 20 / 7739
22
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
23
 (HPO:0002860) Squamous cell carcinoma 18 / 7739
24
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
 (OMIM) Eyelid margin cysts (apocrine hidrocystoma) 1 / 7739
26
 (OMIM) Eccrine poroma 1 / 7739
27
 (OMIM) Thin, narrow nails 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schopf et al. (1971) described keratosis palmoplantaris with hypodontia, hypotrichosis, and cysts of the eyelids in sisters whose parents were first cousins. The deciduous teeth were lost early and the permanent dentition in 1 patient consisted only of ...
Molecular genetics OMIM In a female patient with cysts of the eyelids in addition to hypodontia, hypotrichosis, hyperhidrosis, palmoplantar hyperkeratosis, and dystrophic nails, who was negative for mutation in the ectodysplasin-A gene (EDA; 300451), Bohring et al. (2009) identified homozygosity for ...