Transcript 19th CUH Ophthalmic Pathology Meeting

Eccrine Syringofibroadenoma of
the eyelid associated with
prosthesis
C Keohane, N Bermingham, M Guerin, S Fenton
University Depts of Neuropathology &
Ophthalmology Cork University Hospital
BAOP 2011
Eccrine syringofibroadenoma
(ESFA)
• A rare benign adnexal eccrine neoplasm
• Face, trunk and distal extremities in elderly
individuals
• This case involved the eyelid, associated
with enucleation and long standing
prosthesis.
Case History
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65-yo man
Superomedial left eyelid lesion posterior to his lash line
Present for 3 years, slowly enlarging
Left enucleation aged 1 year for a congenital
abnormality of unknown aetiology
Well -fitted prosthesis in situ.
Solitary elevated, non-tender polypoid lesion on the
upper left eye lid posterior to the gray line, 9 x 5 x 3mm.
Eye socket was unremarkable, no other skin lesions.
The mass was excised.
Pseudoepitheliomatous hyperplasia
Lattice like epithelial strands
AE1-3
B
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CEA
Glandular structures
CEA positive
Eccrine syringofibroadenoma ESFA
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Rare lesions on skin of elderly people
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Very similar to a type of tumour ‘’fibroepithelial tumour of Pinkus’
Surgical excision curative
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May occur in association with chronic active inflammation and as a reactive
phenomenon
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Histology branching anastomosing strands of epithelium with ductal
structures in a fibrovascular stroma. Epithelial strands are attached to the
undersurface of the epidermis.
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The luminal cells show positive staining for carcinoembryonic antigen.
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A few cases have been associated with syringofibrocarcinoma
Differential Diagnosis
• Fibroepithelial tumour of Pinkus
• Pseudoepitheliomatous hyperplasia.
• The ductal differentiation in the epithelial
strands demonstrated by EMA and CEA
exclude these possibilities.
• The prominence of plasma cells has been
previously noted .
• The rarity of this lesion, its occurrence in
association with a longstanding prosthetic
eye and dense chronic inflammation and
fibrosis suggests that in this case it may
me reactive in nature.
An unusual presentation and a new treatment of eccrine Syringofibroadenoma
Jowkar F, Naseri M, Aslani F
Journal of Pakistan Association of Dermatologists 2006; 16: 112-115.
ESFA
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First described by Mascaro in 1963
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Five clinical variants
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1) solitary lesions
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2) multiple lesions associated with ectodermal dysplasia (autosomal
recessive Schopf Schulz Passarge and Cloustons syndrome)
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3) Multiple lesions without associated cutaneous anomalies
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4) Non-familial unilateral multiple linear lesions
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5) A reactive process associated with chronic inflammatory or other
skin lesions ; dermatosis, bullous pemphigus, palmoplantar erosive
lichen planus and chronic diabetic foot ulcers.
ESFA Variants
• Variant: The clear cell variant was reported by Fretzin in 1995. It is
characterized by nests of periodic acid Schiff-positive clear cells
resembling the clear-cell variant of syringoma.
• Multiple palmoplantar Eccrine syringofibroadenomas are a
cutaneous marker of the Schopf syndrome- hidrocystomas of the
eyelid, hypotrichosis- less than normal amount of hair on the head or
body, hypodontia- fewer than the normal number of teeth, and nail
dystrophy
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• ESFA has also been described in association with Clouston
syndrome, a genetically determined autosomal dominant ectodermal
dysplasia with hypotrichosis, nail dystrophy, palmoplantar
hyperkeratosis and pigmentation over joints. The causative
mutations are in GJB6 gene (Connexin 30).
Ocular lesions with ESFA
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To our knowledge, solitary eyelid ESFA has not previously been
described.
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Chen et al. described familial ESFA with ophthalmic abnormalities in
both parent and children including ectropians and entropians,
absence of punctae, corneal vascularisation and scarring, and absent
eyelashes and meibomian glands. ESFA plaques in those cases were
on the feet, toes, scrotum , thighs and back.
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Multiple ESFAs associated with ectodermal dysplasia (Schopf Schulz
Passarge Syndrome) can also involve the eyelid, but the hand lesions
in that syndrome are ESFAs, the eyelid lesions are apocrine
hidrocystomas. Optic atrophy can be found in some cases.
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There were no features of this syndrome in our patient and family
history was negative.
•Brenn
References
T & Mc Kee PH . Tumors of the Sweat Glands. Ch 29 In : Mc Kee PH, Calonje E, Granter SR
eds Pathology of the Skin vol 2 3rd edition Elsevier Mosby, Philadelphia 2005
Mascaro JM. Considerations sur les tumeurs fibroepitheliales: le syringofibroadenome eccrine. Ann
Dermatol Syphiligr.1963;90 :143-153
Clarke LE, Joffreda M, Abt AB Eccrine Syringofibroadenoma Arising in Peristomal Skin. A
Report of Two Cases. Int J Surg Pathol;11;1, 61-63 2003
Schöpf 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.
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: 607–612
Chen S. Eccrine syringofibroadenoma: A report of a familial case with ophthalmologic findings.
J Am Acad Dermatol 1998;39 :356-8
Acknowledgement:Dr J Fitzgibbon
• Schöpf-Schulz-Passarge syndrome is a rare ectodermal dysplasia,
• 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. 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-SchulzPassarge is a genodermatosis with skin appendage neoplasms.
However, the risk of skin and visceral malignancies is not increased.
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.