Pathology – Research and Practice 211 (2015) 625–627
Contents lists available at ScienceDirect
Pathology – Research and Practice journal homepage: www.elsevier.com/locate/prp
Teaching case
Rectal blue nevus: Case report of a rare entity and literature review Jasbir Makker a,b,∗ , Sailaja Sakam b , Prasanthi Arety b , Masooma Niazi c , Bhavna Balar a,b a Division of Gastroenterology, Bronx Lebanon Hospital Center, Albert Einstein College of Medicine of Yeshiva University, 1650 Grand Concourse, Bronx, NY 10457, United States b Department of Medicine, Bronx Lebanon Hospital Center, Albert Einstein College of Medicine of Yeshiva University, 1650 Grand Concourse, Bronx, NY 10457, United States c Department of Pathology, Bronx Lebanon Hospital Center, Albert Einstein College of Medicine of Yeshiva University, 1650 Grand Concourse, Bronx, NY 10457, United States
a r t i c l e
i n f o
Article history: Received 13 September 2014 Received in revised form 14 April 2015 Accepted 17 April 2015 Keywords: Blue nevus Pigmented lesion Rectal nevus Melanocyte
a b s t r a c t Blue nevus, a pigmented skin lesion, affects the dermal melanocytes that are rich in melanin. Its occurrence on skin has been well described in literature. Less commonly, involvement of mucosal surfaces especially genitourinary tract has also been noticed. Here we present a rare case of a blue nevus involving the rectum. So far there has been only one prior description of the blue nevus involving the gastrointestinal mucosa. Differentiation of this lesion from melanoma is the key. Simple excision of the blue nevus with a biopsy forceps during the colonoscopy is an effective management. © 2015 Elsevier GmbH. All rights reserved.
Introduction Blue nevus is an uncommon pigmented lesion of dermal melanocytes. The characteristic blue color of the nevus results from absorption of the longer wavelengths with scattering of the shorter wavelengths of light (Tyndall effect). It has two histological variants – common and cellular types. It typically occurs on skin but mucosal lesions involving genitourinary tract and other regions have been described [1]. Case presentation A 79-year-old woman presented with fever of 1 day duration. She denied cough, shortness of breath, urinary complaints, abdominal pain, diarrhea, nausea and vomiting. Her medical history includes hypertension, diabetes mellitus, hyperlipidemia and gastro-esophageal reflux disease. She underwent hysterectomy many years ago. She is an active smoker but denied any use of alcohol or illicit drugs. She recently came to United States from
∗ Corresponding author at: 1650 Grand Concourse, Bronx, NY 10457, United States. Tel.: +1 347 322 8242; fax: +1 718 518 5111. E-mail address: [email protected] (J. Makker). http://dx.doi.org/10.1016/j.prp.2015.04.007 0344-0338/© 2015 Elsevier GmbH. All rights reserved.
Dominican Republic about a week prior to presentation and lives with her daughter. On examination in the emergency room she was febrile to 101.8 ◦ F, pulse 123 beats per minute, blood pressure 115/75 mm Hg and respiratory rate of 16 per minute. Abdomen was mildly distended though soft, non-tender and without any organomegaly or free fluid on exam. Rest of the systemic examination including chest, cardiac and neurological examination was unremarkable. Routine laboratory results including complete blood count, kidney and liver function tests, coagulation panel and urinalysis were unremarkable. X-ray chest revealed right-sided haziness raising a possibility of pneumonia. She received a 7-day course of antibiotics for community-acquired pneumonia. X-ray abdomen obtained to evaluate abdominal distention showed mildly distended loops of small and large bowel with stool in the entire large bowel. Computed tomography (CT) scan of the abdomen obtained to further evaluate the bowel distention, revealed sigmoid colon thickening, and stool in ascending and transverse colon. Colonoscopy was done to assess the sigmoid colon wall thickening seen on the CT scan. Colonoscopy showed 3 mm polyp in rectosigmoid region, left sided diverticulosis and a small blue pigmented spot in the rectum on the retroflexion view (Fig. 1). Histopathological examination of the biopsy taken from the blue pigmented spot showed rectal mucosa with groups of nevus cells in the subepithelial tissue (Figs. 2 and 3). Nevus cells were found strongly immunoreactive to HMB-45 (Fig. 4).
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J. Makker et al. / Pathology – Research and Practice 211 (2015) 625–627
Fig. 1. Rectal blue nevus as seen on colonoscopy (retroflexed view).
Discussion The term blue nevus was coined by a German dermatologist Josef Jadassohn and later in 1906 introduced into medical literature by his assistant Max-Tieche [2]. Histologically, a blue nevus comprises proliferating melanocytes in the dermis layer of skin. These melanocytes contain varying amounts of melanin that gives the characteristic blue color to them. Immuno-phenotypically, blue nevus cells express HMB-45, S100 and melan-A [3]. Origin of blue nevi cells is unclear. Most commonly held theory supports their origin from migrating neural crest cells. Other less popular theories state their origin from precursor stem cells in dermis or other forms of nevi [1]. Mutation analysis of blue nevus has revealed the presence of mutated GTP binding proteins – GNAQ and GNA11. GNAQ mutation is present in more than 80 percent blue nevi and GNA11 mutation in 4 percent of blue nevi.
Fig. 2. Rectal nevus: rectal mucosa with groups of nevus cells in the subepithelial tissue.
Fig. 3. Rectal nevus: high-magnification showing single and groups of nevus cells.
Mutations involving MAP kinase signaling pathway – HRAS has also been observed in 6 percent of deep penetrating type of blue nevi [4]. Conventionally, blue nevus has been classified into two histological variants – common and cellular types. However, other types of nevus as discussed below have also been described. Common blue nevus predominantly affects young females but can occur at any age [1]. It is usually a single small-pigmented spot measuring less than 1 cm. Histologically, proliferating melanocytes are restricted to dermis without any involvement of the dermo-epidermal junction. Though extensor surface of extremities, hips and scalp have been reported as the favored sites, it can occur at other sites on the body as well [5]. Less commonly, extra-cutaneous involvement has been described involving mucosal surfaces of vagina [6], endocervix [7], oral cavity [8], nasal cavity [9], conjunctiva [10]; and organs like lung [11], prostate [12] and lymph nodes [13]. Involvement of colonic mucosa is extremely rare [14] and so far only one case has been reported in the English literature. The second histological type, cellular blue nevus usually affects the individuals before their fifth decade of life and mostly involves the sacral region. However, other age groups as well as other
Fig. 4. Rectal nevus: nevus cells strongly immunoreactive to HMB-45.
J. Makker et al. / Pathology – Research and Practice 211 (2015) 625–627
regions of involvement have been described. Cellular blue nevus tends to be larger in size than common blue nevus. They can grow up to 2 cm size and can either be a flat or a raised lesion [5]. Histologically, the cellular blue nevus comprises of melanocytes with islands of pale plump cells. Less commonly, amelanocytic variant of cellular blue nevus that is devoid of melanin has been seen [1]. The other variants described in literature include combined nevus, compound nevus, deep penetrating nevus and epithelioid blue nevus. Combined nevus as the name suggests is a combination of two different types of nevus cells with blue nevus as one of the component [2]. Compound nevus comprises of dermal cells with common blue nevus morphology but with the involvement of the dermo-epidermal junction [5]. Deep penetrating nevus consists of deep penetrating extensions of the nevus that reach the deeper layers of dermis and subcutis. Due to rarity of its occurrence, clinical course of rectal blue nevus is largely unknown. Although blue nevus is a benign lesion, concerns about its differentiation from a malignant lesion or transformation to a malignant variety remain. Hence, it is clinically warranted to completely remove such rectal nevi during the colonoscopy or to do close follow-ups if they are not removed. We here recommend the former approach of complete removal with subsequent histological confirmation for the absence of features like cellular atypia, pleomorphism and increased mitoses. The presence of any of these histological features justifies a follow up examination to ensure complete removal of the lesion. Conclusion Blue nevus, characterized by dermal melanocyte proliferation, has several forms including two traditional types – common and cellular blue nevus. They are largely benign lesions, except the compound variant of blue nevus that involves dermo-epidermal junction and has the malignant potential. Blue nevus is mostly a solitary lesion that is limited to skin. Less commonly, involvement of genito-urinary, oro-nasal or conjunctival mucosa may be seen. We here present the second only case of blue nevus involving the rectal mucosa. Given the dearth of literature on blue nevus involving the rectal mucosa, its excision and careful differentiation from malignant melanoma appears a justified approach. Funding None.
627
Disclosures None. Conflict of interest None. Acknowledgements None. References [1] A. Zembowicz, P.A. Phadke, Blue nevi and variants: an update, Arch. Pathol. Lab. Med. 135 (2011) 327–336. [2] R. Murali, S.W. McCarthy, R.A. Scolyer, Blue nevi and related lesions: a review highlighting atypical and newly described variants, distinguishing features and diagnostic pitfalls, Adv. Anat. Pathol. 16 (2009) 365–382. [3] A. Zembowicz, M.C. Mihm, Dermal dendritic melanocytic proliferations: an update, Histopathology 45 (2004) 433–451. [4] R.P. Bender, M.J. McGinniss, P. Esmay, E.F. Velazquez, J.D. Reimann, Identification of HRAS mutations and absence of GNAQ or GNA11 mutations in deep penetrating nevi, Mod. Pathol. 26 (2013) 320–328. [5] R. Gonzalez-Campora, H. Galera-Davidson, F.J. Vazquez-Ramirez, S. Diaz-Cano, Blue nevus: classical types and new related entities. A differential diagnostic review, Pathol. Res. Pract. 190 (1994) 627–635. [6] K.J. Craddock, B. Bandarchi, M.A. Khalifa, Blue nevi of the Mullerian tract: case series and review of the literature, J. Low. Genit. Tract Dis. 11 (2007) 284–289. [7] E.A. Zevallos-Giampietri, C. Barrionuevo, Common blue nevus of the uterine cervix: case report and review, Appl. Immunohistochem. Mol. Morphol. 12 (2004) 79–82. [8] K.R. Rask, C.W. Topp, H.B. Tilson, Intraoral blue nevus: review of the literature and report of case, J. Oral Surg. 30 (1972) 212–214. [9] L.M. Lim, K.B. Tan, F. Petersson, M. Thong, Sinonasal blue naevus: case report and clinicopathological review, J. Laryngol. Otol. 127 (2013) 939–941. [10] C.L. Shields, A.F. Fasiuddin, A. Mashayekhi, J.A. Shields, Conjunctival nevi: clinical features and natural course in 410 consecutive patients, Arch. Ophthalmol. 122 (2004) 167–175. [11] B. Pigac, S. Maric, S. Masic, Benign blue naevus of the lungs, Med. Glas. (Zenica) 9 (2012) 130–132. [12] F. Di Nuovo, M.G. Sironi, M. Spinelli, True prostatic blue nevus associated with melanosis: case report, histogenesis and review of the literature, Adv. Clin. Pathol. 6 (2002) 135–139. [13] L. Dohse, T. Ferringer, Nodal blue nevus: a pitfall in lymph node biopsies, J. Cutan. Pathol. 37 (2010) 102–104. [14] Z.J. Schreiber, T.R. Pal, S.J. Hwang, Blue nevus of the colorectal mucosa, Ann. Diagn. Pathol. 15 (2011) 128–130.
Contents lists available at ScienceDirect
Pathology – Research and Practice journal homepage: www.elsevier.com/locate/prp
Teaching case
Rectal blue nevus: Case report of a rare entity and literature review Jasbir Makker a,b,∗ , Sailaja Sakam b , Prasanthi Arety b , Masooma Niazi c , Bhavna Balar a,b a Division of Gastroenterology, Bronx Lebanon Hospital Center, Albert Einstein College of Medicine of Yeshiva University, 1650 Grand Concourse, Bronx, NY 10457, United States b Department of Medicine, Bronx Lebanon Hospital Center, Albert Einstein College of Medicine of Yeshiva University, 1650 Grand Concourse, Bronx, NY 10457, United States c Department of Pathology, Bronx Lebanon Hospital Center, Albert Einstein College of Medicine of Yeshiva University, 1650 Grand Concourse, Bronx, NY 10457, United States
a r t i c l e
i n f o
Article history: Received 13 September 2014 Received in revised form 14 April 2015 Accepted 17 April 2015 Keywords: Blue nevus Pigmented lesion Rectal nevus Melanocyte
a b s t r a c t Blue nevus, a pigmented skin lesion, affects the dermal melanocytes that are rich in melanin. Its occurrence on skin has been well described in literature. Less commonly, involvement of mucosal surfaces especially genitourinary tract has also been noticed. Here we present a rare case of a blue nevus involving the rectum. So far there has been only one prior description of the blue nevus involving the gastrointestinal mucosa. Differentiation of this lesion from melanoma is the key. Simple excision of the blue nevus with a biopsy forceps during the colonoscopy is an effective management. © 2015 Elsevier GmbH. All rights reserved.
Introduction Blue nevus is an uncommon pigmented lesion of dermal melanocytes. The characteristic blue color of the nevus results from absorption of the longer wavelengths with scattering of the shorter wavelengths of light (Tyndall effect). It has two histological variants – common and cellular types. It typically occurs on skin but mucosal lesions involving genitourinary tract and other regions have been described [1]. Case presentation A 79-year-old woman presented with fever of 1 day duration. She denied cough, shortness of breath, urinary complaints, abdominal pain, diarrhea, nausea and vomiting. Her medical history includes hypertension, diabetes mellitus, hyperlipidemia and gastro-esophageal reflux disease. She underwent hysterectomy many years ago. She is an active smoker but denied any use of alcohol or illicit drugs. She recently came to United States from
∗ Corresponding author at: 1650 Grand Concourse, Bronx, NY 10457, United States. Tel.: +1 347 322 8242; fax: +1 718 518 5111. E-mail address: [email protected] (J. Makker). http://dx.doi.org/10.1016/j.prp.2015.04.007 0344-0338/© 2015 Elsevier GmbH. All rights reserved.
Dominican Republic about a week prior to presentation and lives with her daughter. On examination in the emergency room she was febrile to 101.8 ◦ F, pulse 123 beats per minute, blood pressure 115/75 mm Hg and respiratory rate of 16 per minute. Abdomen was mildly distended though soft, non-tender and without any organomegaly or free fluid on exam. Rest of the systemic examination including chest, cardiac and neurological examination was unremarkable. Routine laboratory results including complete blood count, kidney and liver function tests, coagulation panel and urinalysis were unremarkable. X-ray chest revealed right-sided haziness raising a possibility of pneumonia. She received a 7-day course of antibiotics for community-acquired pneumonia. X-ray abdomen obtained to evaluate abdominal distention showed mildly distended loops of small and large bowel with stool in the entire large bowel. Computed tomography (CT) scan of the abdomen obtained to further evaluate the bowel distention, revealed sigmoid colon thickening, and stool in ascending and transverse colon. Colonoscopy was done to assess the sigmoid colon wall thickening seen on the CT scan. Colonoscopy showed 3 mm polyp in rectosigmoid region, left sided diverticulosis and a small blue pigmented spot in the rectum on the retroflexion view (Fig. 1). Histopathological examination of the biopsy taken from the blue pigmented spot showed rectal mucosa with groups of nevus cells in the subepithelial tissue (Figs. 2 and 3). Nevus cells were found strongly immunoreactive to HMB-45 (Fig. 4).
626
J. Makker et al. / Pathology – Research and Practice 211 (2015) 625–627
Fig. 1. Rectal blue nevus as seen on colonoscopy (retroflexed view).
Discussion The term blue nevus was coined by a German dermatologist Josef Jadassohn and later in 1906 introduced into medical literature by his assistant Max-Tieche [2]. Histologically, a blue nevus comprises proliferating melanocytes in the dermis layer of skin. These melanocytes contain varying amounts of melanin that gives the characteristic blue color to them. Immuno-phenotypically, blue nevus cells express HMB-45, S100 and melan-A [3]. Origin of blue nevi cells is unclear. Most commonly held theory supports their origin from migrating neural crest cells. Other less popular theories state their origin from precursor stem cells in dermis or other forms of nevi [1]. Mutation analysis of blue nevus has revealed the presence of mutated GTP binding proteins – GNAQ and GNA11. GNAQ mutation is present in more than 80 percent blue nevi and GNA11 mutation in 4 percent of blue nevi.
Fig. 2. Rectal nevus: rectal mucosa with groups of nevus cells in the subepithelial tissue.
Fig. 3. Rectal nevus: high-magnification showing single and groups of nevus cells.
Mutations involving MAP kinase signaling pathway – HRAS has also been observed in 6 percent of deep penetrating type of blue nevi [4]. Conventionally, blue nevus has been classified into two histological variants – common and cellular types. However, other types of nevus as discussed below have also been described. Common blue nevus predominantly affects young females but can occur at any age [1]. It is usually a single small-pigmented spot measuring less than 1 cm. Histologically, proliferating melanocytes are restricted to dermis without any involvement of the dermo-epidermal junction. Though extensor surface of extremities, hips and scalp have been reported as the favored sites, it can occur at other sites on the body as well [5]. Less commonly, extra-cutaneous involvement has been described involving mucosal surfaces of vagina [6], endocervix [7], oral cavity [8], nasal cavity [9], conjunctiva [10]; and organs like lung [11], prostate [12] and lymph nodes [13]. Involvement of colonic mucosa is extremely rare [14] and so far only one case has been reported in the English literature. The second histological type, cellular blue nevus usually affects the individuals before their fifth decade of life and mostly involves the sacral region. However, other age groups as well as other
Fig. 4. Rectal nevus: nevus cells strongly immunoreactive to HMB-45.
J. Makker et al. / Pathology – Research and Practice 211 (2015) 625–627
regions of involvement have been described. Cellular blue nevus tends to be larger in size than common blue nevus. They can grow up to 2 cm size and can either be a flat or a raised lesion [5]. Histologically, the cellular blue nevus comprises of melanocytes with islands of pale plump cells. Less commonly, amelanocytic variant of cellular blue nevus that is devoid of melanin has been seen [1]. The other variants described in literature include combined nevus, compound nevus, deep penetrating nevus and epithelioid blue nevus. Combined nevus as the name suggests is a combination of two different types of nevus cells with blue nevus as one of the component [2]. Compound nevus comprises of dermal cells with common blue nevus morphology but with the involvement of the dermo-epidermal junction [5]. Deep penetrating nevus consists of deep penetrating extensions of the nevus that reach the deeper layers of dermis and subcutis. Due to rarity of its occurrence, clinical course of rectal blue nevus is largely unknown. Although blue nevus is a benign lesion, concerns about its differentiation from a malignant lesion or transformation to a malignant variety remain. Hence, it is clinically warranted to completely remove such rectal nevi during the colonoscopy or to do close follow-ups if they are not removed. We here recommend the former approach of complete removal with subsequent histological confirmation for the absence of features like cellular atypia, pleomorphism and increased mitoses. The presence of any of these histological features justifies a follow up examination to ensure complete removal of the lesion. Conclusion Blue nevus, characterized by dermal melanocyte proliferation, has several forms including two traditional types – common and cellular blue nevus. They are largely benign lesions, except the compound variant of blue nevus that involves dermo-epidermal junction and has the malignant potential. Blue nevus is mostly a solitary lesion that is limited to skin. Less commonly, involvement of genito-urinary, oro-nasal or conjunctival mucosa may be seen. We here present the second only case of blue nevus involving the rectal mucosa. Given the dearth of literature on blue nevus involving the rectal mucosa, its excision and careful differentiation from malignant melanoma appears a justified approach. Funding None.
627
Disclosures None. Conflict of interest None. Acknowledgements None. References [1] A. Zembowicz, P.A. Phadke, Blue nevi and variants: an update, Arch. Pathol. Lab. Med. 135 (2011) 327–336. [2] R. Murali, S.W. McCarthy, R.A. Scolyer, Blue nevi and related lesions: a review highlighting atypical and newly described variants, distinguishing features and diagnostic pitfalls, Adv. Anat. Pathol. 16 (2009) 365–382. [3] A. Zembowicz, M.C. Mihm, Dermal dendritic melanocytic proliferations: an update, Histopathology 45 (2004) 433–451. [4] R.P. Bender, M.J. McGinniss, P. Esmay, E.F. Velazquez, J.D. Reimann, Identification of HRAS mutations and absence of GNAQ or GNA11 mutations in deep penetrating nevi, Mod. Pathol. 26 (2013) 320–328. [5] R. Gonzalez-Campora, H. Galera-Davidson, F.J. Vazquez-Ramirez, S. Diaz-Cano, Blue nevus: classical types and new related entities. A differential diagnostic review, Pathol. Res. Pract. 190 (1994) 627–635. [6] K.J. Craddock, B. Bandarchi, M.A. Khalifa, Blue nevi of the Mullerian tract: case series and review of the literature, J. Low. Genit. Tract Dis. 11 (2007) 284–289. [7] E.A. Zevallos-Giampietri, C. Barrionuevo, Common blue nevus of the uterine cervix: case report and review, Appl. Immunohistochem. Mol. Morphol. 12 (2004) 79–82. [8] K.R. Rask, C.W. Topp, H.B. Tilson, Intraoral blue nevus: review of the literature and report of case, J. Oral Surg. 30 (1972) 212–214. [9] L.M. Lim, K.B. Tan, F. Petersson, M. Thong, Sinonasal blue naevus: case report and clinicopathological review, J. Laryngol. Otol. 127 (2013) 939–941. [10] C.L. Shields, A.F. Fasiuddin, A. Mashayekhi, J.A. Shields, Conjunctival nevi: clinical features and natural course in 410 consecutive patients, Arch. Ophthalmol. 122 (2004) 167–175. [11] B. Pigac, S. Maric, S. Masic, Benign blue naevus of the lungs, Med. Glas. (Zenica) 9 (2012) 130–132. [12] F. Di Nuovo, M.G. Sironi, M. Spinelli, True prostatic blue nevus associated with melanosis: case report, histogenesis and review of the literature, Adv. Clin. Pathol. 6 (2002) 135–139. [13] L. Dohse, T. Ferringer, Nodal blue nevus: a pitfall in lymph node biopsies, J. Cutan. Pathol. 37 (2010) 102–104. [14] Z.J. Schreiber, T.R. Pal, S.J. Hwang, Blue nevus of the colorectal mucosa, Ann. Diagn. Pathol. 15 (2011) 128–130.
