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Schöpf-Schulz-Passarge syndrome (SSPS)
John A McGrath
St Johns Institute of Dermatology, Kings College London (Guys Campus), London, United Kingdom
Schöpf-Schulz-Passarge syndrome (SSPS)
Keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis. , Eccrine tumours with ectodermal dysplasia.
SSPS is an eponymous form of ectodermal dysplasia first described in 1971 by Erwin Schöpf, Johann Schulz and Eberhard Passarge in a report of two sisters with eyelid cysts, hypodontia, hypotrichosis, palmoplantar hyperkeratosis and nail dystrophy.
Autosomal recessive. Fewer than 100 cases of SSPS have been reported. Heterozygous carriers may show some ectodermal anomalies (predominantly hair\/nails in females, teeth in males).
50944 Schöpf syndrome
Phenotype and clinics
SSPS is characterized by eyelid cysts (apocrine hidrocystomas), palmoplantar keratoderma, hypodontia, hyperhidrosis, hypotrichosis and onychodystrophy, as well as other, often variable, ectodermal developmental anomalies (Schöpf et al., 1971; Monk et al., 1992). SSPS shows clinical overlap with odonto-onycho-dermal dysplasia (OODD), but the eyelid cysts are a typical sign of SSPS. Some features may not present until adulthood and diagnosis can be delayed (Granger et al., 2012). The presence of ectodermal abnormalities in some carriers can lead to confusion in the mode of inheritance (Craigen et al., 1997).
Eyelid cysts (apocrine hidrocystomas) that can also extend to the peri-ocular regions and nasal bridge.
The neoplastic risk in SSPS is controversial. Some authors consider that SSPS can be associated with an increased risk of benign as well as malignant skin tumours (Monk et al., 1992). Reports include an increased incidence of benign adnexal tumours, such as eyelid hidrocystomas or eccrine syringofibroadenomas (Starink, 1997), and possibly a higher risk of malignant skin tumours such as squamous cell carcinoma, basal cell carcinoma and eccrine porocarcinoma (Bohring et al., 2009; Monk et al., 1992; Starink, 1997).
There is no effective treatment for SSPS. Hyperhidrosis of the palms may respond partially to tap water iontophoresis (although use of anti-cholinergics may induce excessive systemic side-effects such as dry mouth, dizziness and drowsiness). Systemic retinoids can exacerbate skin peeling, although low doses may help some individuals. The apocrine hidrocystomas can be improved by electrocautery. Regular skin examination to detect non-melanoma skin cancer may be advisable. Regular dental care\/surgery is indicated in most cases. Hair\/nail cosmesis may help some individuals. Psychological support should be offered, as necessary.
Many of the features of ectodermal dysplasia only manifest or worsen during adulthood. In some individuals with SSPS, the apocrine hidrocystomas tend to become larger and more numerous with age.
Life expectancy is normal ; the main challenge is the symptomatic management of whichever ectodermal pathologies cause the patient the most concern.
Genes involved and Proteins
WNT10A is a key signalling molecule that regulates cell-cell interactions and which is involved in multiple developmental processes in embryogenesis. In adult tissues it inhibits the
degradation complex and is involved in hair follicle and tooth morphogenesis (Logan and Nusse, 2004).
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.
Adaimy L et al
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
Bohring A et al
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.
Castori M et al
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Cluzeau C et al
Schöpf-Schulz-Passarge syndrome with an unusual pattern of inheritance.
Craigen WJ et al
Late diagnosis of ectodermal dysplasia syndrome.
Granger RH et al
The Wnt signaling pathway in development and disease.
Logan CY et al
Monk BE et al
Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A.
Nagy N et al
Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.
Petrof G et al
Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait.
Schöpf E et al
Eccrine syringofibroadenoma: multiple lesions representing a new cutaneous marker of the Schöpf syndrome, and solitary nonhereditary tumors.
Starink TM et al
Phenotypic variability associated with WNT10A nonsense mutations.
Van Geel M et al
Intra-familial variability of ectodermal defects associated with WNT10A mutations.
Wedgeworth EK et al
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