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Focal perifollicular mucinosis of the eyelid presenting as a benign nevus

Published:December 11, 2017DOI:https://doi.org/10.1016/j.jcjo.2017.10.037
      Focal mucinosis typically presents as a skin-colored single papule or nodule that can occur almost anywhere on the body, except on the joints of the hand and foot.
      • Bolognia J.L.
      • Jorizzo J.L.
      • Rapini R.P.
      Dermatology.
      Focal mucinosis is usually seen in adults and is rarely seen in children.
      • Patterson J.W.
      Practical Skin Pathology: A Diagnostic Approach.
      Multiple lesions may be associated with thyroid disease, systemic lupus erythematosus, and gammopathies. Hence, these conditions should be considered in patients with multiple cutaneous focal mucinosis.
      • Braun-Falco O.
      • Plewig G.
      • Wolff H.H.
      • Burgdorf W.
      Dermatology.
      The appearance of the skin lesion in perifollicular mucinosis is also variable. In addition to the classic skin-colored nodule, lesions may appear as plaques or pink papules or present as atypical rubra pilaris–like eruptions.
      • Hernandez C.
      • Fowler A.
      • Gandhi M.Y.
      Multiple lesions of cutaneous focal mucinosis in a teenager.
      • Perrin C.
      • Durant J.M.
      • Lacour J.P.
      • Michiels J.F.
      • Dellamonica P.
      • Ortonne J.P.
      Horny perifollicular mucinosis: an atypical pityriasis rubra pilaris-like eruption associated with HIV infection.
      Eyelid involvement is rare, and our review of the literature revealed only 2 reported cases.
      • Hernandez C.
      • Fowler A.
      • Gandhi M.Y.
      Multiple lesions of cutaneous focal mucinosis in a teenager.
      • Rohrbach J.M.
      • Pressler H.
      • Djelebova T.
      • Schuller S.
      [Focal mucinosis of the eyelid].
      In this paper, we report on a third case of focal mucinosis of the eyelid and review previously reported cases to increase ophthalmologists’ awareness of this rare entity. Our case is also unique because the eyelid lesion had the clinical presentation of a nevus.
      A 58-year-old female presented to King Khaled Eye Specialist Hospital (KKESH) with a pigmented skin lesion involving the left lower eyelid margin. The lesion was noted by the patient 3 months before her presentation. She also presented with bilateral blepharitis. Her visual acuity measured 20/40 OU with a normal intraocular pressure of 17 mm Hg in the right and 18 mm Hg in the left. Based on the clinical examination, the lesion was noted to be slightly raised and tan-coloured and thus was diagnosed as a benign nevus. The patient was not known to have any thyroid disease, systemic lupus erythematosus, or gammopathy. Excisional biopsy was performed, and the specimen was sent for tissue diagnosis. The lesion consisted of a well-demarcated area surrounding a hair follicle showing abundant dermal mucinous deposits with splitting of the dermal collagen fibers (Fig. 1A). Spindle-shaped fibroblasts and stellate-shaped cells were seen together with numerous small blood vessels and perivascular lymphocytic infiltrate (Fig. 1B). The abundant mucopolysaccharides showed positive staining with Alcian blue and colloidal iron stains (Fig. 1C, D). The tissue diagnosis was focal perifollicular mucinosis, which was completely excised. The patient was followed up in the clinic for 3 years and showed resolving blepharitis with no evidence of recurrence of the eyelid lesion.
      Fig. 1
      Fig. 1(A) Histopathological photograph showing the area of focal mucinosis surrounding a hair follicle of the lid margin (original magnification ×100; hematoxylin and eosin). (B) Higher-power photograph showing the fibroblasts in a mucinous background (original magnification ×400; hematoxylin and eosin). (C) The area of perifollicular focal mucinosis with significant staining of the mucopolysaccharides (original magnification ×100; Alcian blue). (D) Appearance of the pools of mucin in the same area with a different stain (original magnification ×100; colloidal iron).
      Focal mucinosis is an entity of grouped cutaneous diseases called mucinosis. The essential feature of this group is the abnormal deposition of mucopolysaccharides—usually hyaluronic acid—in large amounts, in addition to the presence of fibroblasts. Focal mucinosis is a histological diagnosis, with mucins being deposited throughout the dermis and sparing the subcutaneous fat. The lesion is better seen using colloidal iron or Alcian blue stain. Cleft-like spaces can be seen with cystic formation because of mucin shrinkage during fixation and processing. Vimentin-positive spindle-shaped fibroblasts are usually present. Dermal dendritic cells that are positive for factor XIII and CD34 can be seen in a minor proportion.
      • Bolognia J.L.
      • Jorizzo J.L.
      • Rapini R.P.
      Dermatology.
      Histopathologically, such a lesion can be confused with superficial angiomyxoma, which is characterized by acellular mucinous areas, stellate fibroblastic cells, myxoid stroma, blood vessels, and mixed inflammatory cell infiltrate. These lesions have peculiar appearance, are often unrecognized, and have high tendency for recurrence. In addition, eyelid myxomatous lesions may have possible systemic association with Carney’s complex.
      • Calonje E.
      • Guerin D.
      • McCormick D.
      • Fletcher C.D.
      Superficial angiomyxoma: clinicopathologic analysis of a series of distinctive but poorly recognized cutaneous tumors with tendency for recurrence.
      Focal mucinosis is very rare, and its occurrence in the eyelids is extremely rare. The first case of focal mucinosis affecting the eyelid was reported in 1998. A 13-year-old Turkish male presented with an asymptomatic tumour in the medial part of his upper eyelid. Treatment with argon laser was tried, but the lesion recurred 14 months later. Incomplete surgical excision resulted in a second recurrence at the original eyelid site as well as an additional 3 nearby pedunculated tumours. Total excision was curative. Histopathological examination of all lesions showed upper dermis–proliferating fibroblasts and leukocytes within mucinous background that was positive with Alcian blue stain and negative with periodic acid–Schiff stain. The fibroblastic cells expressed the S-100 protein.
      • Calonje E.
      • Guerin D.
      • McCormick D.
      • Fletcher C.D.
      Superficial angiomyxoma: clinicopathologic analysis of a series of distinctive but poorly recognized cutaneous tumors with tendency for recurrence.
      The second case of eyelid focal mucinosis was reported in 2007, when a 19-year-old Hispanic female presented with asymptomatic multiple pink papules on the face involving the right cheek, right temple, left lower eyelid, and neck area. The lesions appeared several years before her presentation and remained stable in size over the following years. On examination, the lesions were well-demarcated, slightly raised pink papules and plaques with no scales. Punch biopsy was performed and showed superficial perivascular dermatitis with a slight increase in the number of fibroblasts. Colloidal iron staining was diffusely positive with replacement of collagen by mucinous material in the dermal layer.
      • Hernandez C.
      • Fowler A.
      • Gandhi M.Y.
      Multiple lesions of cutaneous focal mucinosis in a teenager.
      Our patient was older than the previously reported eyelid cases but with similar histopathological findings. Our case was also unique because the eyelid lesion mimicked a nevus. After an extensive review of the literature, we found a trunk lesion that mimicked a nevus clinically and was similar to our case histopathologically; the authors there proposed the term “follicular mucinous nevus” as a final diagnosis.
      • Oiso N.
      • Kimura M.
      • Kawada A.
      Follicular mucinous nevus: a possible new variant of mucinous nevus.
      A recent review by Arora et al.
      • Arora H.
      • Falto-Aizpurua L.
      • Cortes-Fernandez A.
      • Choudhary S.
      • Romanelli P.
      Connective tissue nevi: a review of the literature.
      has described connective tissue nevi (CTN) hamartomas of the dermis involving the presence of 3 main components in these lesions: collagen, elastin, and proteoglycans (either singly or in combination). CTN are considered benign and can be either isolated or represent a manifestation of a syndrome. Our lesion fits in their classified acquired proteoglycan CTN group, which includes focal cutaneous mucinosis; however, the authors did not present histopathological photographs in their review.
      • Arora H.
      • Falto-Aizpurua L.
      • Cortes-Fernandez A.
      • Choudhary S.
      • Romanelli P.
      Connective tissue nevi: a review of the literature.
      Management of these lesions includes surgical excision, laser treatment, dermabrasion, and intralesional steroids.
      • Arora H.
      • Falto-Aizpurua L.
      • Cortes-Fernandez A.
      • Choudhary S.
      • Romanelli P.
      Connective tissue nevi: a review of the literature.
      The lesion in our patient was surgically excised with no evidence of recurrence after a follow-up period of 3 years.
      Focal mucinosis is a rare entity that has been recognized recently as one of the entities in the group of skin hamartomas named “connective tissue nevi.” These lesions have different forms of presentation, which makes diagnosis based on clinical examination alone challenging. They also can occur as isolated lesions or in association with syndromic conditions and thus require full evaluation of patients and monitoring of the lesions. We aim to bring the attention of ophthalmologists to this rare entity. We also recommend tissue diagnosis by experienced pathologists to reach the correct diagnosis and manage patients accordingly.

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