Eccrine Syringofibroadenoma of the eyelid associated with prosthesis

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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
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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.

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Case History

• 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.

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Pseudoepitheliomatous hyperplasia
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Lattice like epithelial strands
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AE1-3
B
?
?
?
?
B
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CEA
Glandular structures CEA positive
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Eccrine syringofibroadenoma ESFA

• Rare lesions on skin of elderly people
• Very similar to a type of tumour
  fibroepithelial tumour of Pinkus
• Surgical excision curative
• May occur in association with chronic active
  inflammation and as a reactive phenomenon
• Histology branching anastomosing strands of
  epithelium with ductal structures in a
  fibrovascular stroma.  Epithelial strands are
  attached to the undersurface of the epidermis.
• The luminal cells show positive staining for
  carcinoembryonic antigen.
• A few cases have been associated with
  syringofibrocarcinoma

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Differential Diagnosis

• Fibroepithelial tumour of Pinkus
• Pseudoepitheliomatous hyperplasia.
• The ductal differentiation in the epithelial
  strands demonstrated by EMA and CEA exclude these
  possibilities.

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• 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.

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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.
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ESFA

• First described by Mascaro in 1963
• Five clinical variants
• 1) solitary lesions
• 2) multiple lesions associated with ectodermal
  dysplasia (autosomal recessive Schopf Schulz
  Passarge and Cloustons syndrome)
• 3) Multiple lesions without associated cutaneous
  anomalies
• 4) Non-familial unilateral multiple linear
  lesions
• 5) A reactive process associated with chronic
  inflammatory or other skin lesions dermatosis,
  bullous pemphigus, palmoplantar erosive lichen
  planus and chronic diabetic foot ulcers.

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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
• 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).

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Ocular lesions with ESFA

• To our knowledge, solitary eyelid ESFA has not
  previously been described.
• 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.
• 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.
• There were no features of this syndrome in our
  patient and family history was negative.

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• References

Brenn 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.196390 143-153 Clarke LE, Joffreda
M, Abt AB Eccrine Syringofibroadenoma Arising in
Peristomal Skin. A Report of Two Cases. Int J
Surg Pathol111, 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
219221. 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 607612 Chen S. Eccrine
syringofibroadenoma A report of a familial case
with ophthalmologic findings. J Am Acad Dermatol
199839 356-8
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AcknowledgementDr J Fitzgibbon
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• 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-Schulz-Passarge 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.