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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 9  |  Issue : 2  |  Page : 131-133

The mystery of brown shawl over back: a rare case of giant plexiform neurofibroma underlying a giant café-au-lait macule


1 Department of Dermatology, Venereology and Leprosy, HBTMC and Dr RN Cooper Hospital, Mumbai, Maharashtra, India
2 Department of Dermatology, Venereology and Leprosy, Government Medical College, Nagpur, Maharashtra, India

Date of Submission28-May-2020
Date of Decision08-Sep-2020
Date of Acceptance22-Jun-2021
Date of Web Publication12-Aug-2022

Correspondence Address:
Dr. Sumit A Hajare
Department of Dermatology, Venereology and Leprosy, Government Medical College, Nagpur 440018, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/Pigmentinternational.Pigmentinternational_

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  Abstract 


Neurofibromatosis is a rare autosomal dominant disorder characterized by café-au-lait macules and cutaneous neurofibromas. Café-au-lait spots are sharply defined, light-brown colored homogenous macules observed in more than 90% of cases. Plexiform neurofibromas are benign tumors originating from nerve sheath cells, subcutaneous or visceral peripheral nerves involving multiple fascicles often described on palpation as a bag of worms. We describe a case of 25-year-old male who presented with a giant plexiform neurofibroma underlying a giant café-au-lait macule.

Keywords: Bag of worms, café-au-lait macule, malignant peripheral nerve sheath tumor, neurofibromatosis, plexiform neurofibroma


How to cite this article:
Rambhia KD, Hajare SA, Mukhi JI, Singh RP. The mystery of brown shawl over back: a rare case of giant plexiform neurofibroma underlying a giant café-au-lait macule. Pigment Int 2022;9:131-3

How to cite this URL:
Rambhia KD, Hajare SA, Mukhi JI, Singh RP. The mystery of brown shawl over back: a rare case of giant plexiform neurofibroma underlying a giant café-au-lait macule. Pigment Int [serial online] 2022 [cited 2022 Sep 28];9:131-3. Available from: https://www.pigmentinternational.com/text.asp?2022/9/2/131/353669




  Introduction Top


Neurofibromatosis type 1 (NF-1) is a rare autosomal dominant disorder caused by mutations of the NF-1 gene located at chromosome 17q11.2, estimated to occur in one of every 3000 births with no sex predilection.[1] Café-au-lait spots are sharply defined, light-brown colored homogenous macules observed in more than 90% of NF-1 cases, vary in diameter from 0.5 to 50 cm with majority being under 10 cm.[2] Plexiform neurofibromas (PNFs) are benign tumors originating from nerve sheath cells, subcutaneous or visceral peripheral nerves involving multiple fascicles. Massive tumors results in disfigurement and functional disability. PNF usually occurs in about 30% of the patients with NF-1 and their diffuse and soft nature is often described as “bag of worms.”[3]

We describe a case of 25-year-old male who presented with a giant PNF underlying a giant café-au-lait macule over trunk.


  Case report Top


A 25-year-old male patient presented with complaints of dark-colored patch over neck and trunk since 24 years associated with asymptomatic swelling over neck since 6 to 7 years which gradually progressed to involve upper back. There was no history of similar complaints in family members.

On examination, the patient had a giant café-au-lait macule in a shawl-like pattern over neck, shoulders, and back of size about 48 × 72 cm extending vertically from occipital hairline to lower back and laterally from right clavicle and shoulder crossing the back up to the left clavicle and shoulder [Figure] 1a, b. An underlying ill-defined swelling of size about 30 × 20 cm with smooth contours was appreciated on neck and upper back which was soft and nontender on palpation and felt like a bag of worms [Figure 1]c. Three café-au-lait macules of size about 5 to 6 cm were present over left upper thigh, right mid–thigh, and right lower leg. The rest of cutaneous, ocular, and mucosal examination was normal.
Figure 1 (a) Anterior view showing café-au-lait macule over neck and shoulders. (b) Posterior view showing the café-au-lait macule extending from occipital area to lower back. (c) Lateral view showing swelling of the posterior part of neck and upper back.

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Ultrasound of the neck was suggestive of diffuse subcutaneous swelling. Skin punch biopsy performed from neck swelling revealed, otherwise normal epidermis with basal hyperpigmentation and increased basal melanocytes suggestive of café-au-lait macule [Figure 2]a, b and interlacing bundles of elongated spindle shaped nerve cells surrounded by intervening supportive fibrocollagenous stroma and blood vessels in dermis suggestive of underlying PNF [Figure 2]c. On the basis of clinical and histopathologic findings, a diagnosis of neurofibromatosis was made. As the patient had only four café-au-lait macules and one PNF without any other features, the case was classified as neurofibromatosis type-8 (NF-8, unspecified) as per Riccardi classification. The patient was advised surgical resection; however, surgery was deferred as the PNF was minimally disfiguring. However, considering the risk of malignant transformation, the patient was advised for 6 months follow-up.
Figure 2 (a) Hematoxylin and eosin (H&E) staining (10×) and (b) Fontana staining (10×) of biopsy over neck show epidermis with basal hyperpigmentation and increased basal melanocytes. (c) H&E staining, 100×. Interlacing bundles of elongated spindle shaped nerve cells surrounded by intervening supportive fibrocollagenous stroma and blood vessels are seen in dermis.

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  Discussion Top


The NF-1 is a rare autosomal dominant disorder. The diagnosis of NF-1 requires presence of two or more of the following criteria: six or more café-au-lait spots, two or more cutaneous neurofibromas, one or more PNFs, skin fold freckling, Lisch nodules, optic glioma, characteristic skeletal dysplasia, or affected first degree relatives.[4] In the present case, the patient had one PNF and only four café-au-lait macules and thus cannot be classified as NF-1.

Café-au-lait macules are epidermal melanocytic flat lesions which literally mean coffee with milk in French due to typical milky brown color of macules.[5] They vary in diameter from 0.5 to 50 cm, majority being under 10 cm. Giant café-au-lait macules larger than 30 cm are considered rare.[2] The present case had a giant macule of size 72 × 48 cm in a shawl-like pattern over neck, shoulders, and back.

Neurofibromas are classified into two types: dermal and plexiform. Dermal neurofibromas originate from a single peripheral nerve, whereas PNFs are associated with multiple nerve bundles forming interdigitating network. Both types of neurofibromas have similar histologic pattern comprising of Schwann cells, fibroblasts, and perineural cells. Cutaneous NFs are not specific for neurofibromatosis, whereas the plexiform variety is considered specific and exclusively observed in NF. Diffuse (elephantiasis neurofibromatosa) and nodular types of PNFs are recognized.[3] The present case had a diffuse ill-defined swelling underlying the giant café-au-lait macule with smooth contour and absence of convolutions. The word “plexiform” does not imply involvement of a nerve plexus but suggests a network-like growth of neurofibroma, involving multiple fascicles of a nerve or multiple branches of a large nerve.[6] Histopathology of PNF shows a chaotic arrangement of wavy Schwann cell bundles dispersed in an extracellular matrix of mucopolysaccharide and collagen leading to wide separation of nerve fascicles.[6]

The PNFs can turn malignant in 4% to 5% of cases.[7] Rapid enlargement, radicular pain, paresthesias, and motor weakness should raise concern for the development of malignant peripheral nerve sheath tumors (MPNSTs). On biopsy, MPNSTs show dense cellular fascicles alternating with myxoid areas termed as marbleized pattern. Malignancy is suggested by features such as invasion of surrounding tissues and vascular structures, nuclear pleomorphism and necrosis.[8] MPNSTs are the main cause of mortality in NF. Insulin-like growth factor-binding protein-1 and regulated upon activation, normal T-cell expressed and secreted (RANTES), a chemokine secreted by platelets responsible for activation and chemotaxis of T-cells, eosinophils and basophils were found to be biomarkers for early detection of MPNSTs.[9]

Complete surgical resection is the treatment of choice, but large size and involvement of multiple tissue planes increase risk of neurologic and functional destruction and tumors bleed profusely due to high vascularity and friable vessels. High rate of recurrence up to 20% have been noted. Surgical interventions are thus commonly deferred as long as possible.[10],[11],[12] Treatment with imatinib and interferon alpha has also been tried.[13],[14]

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Evans DG, Howard E, Giblin C et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 2010;152A:327-32.  Back to cited text no. 1
    
2.
Yang CC, Happle R, Chao SC, Lee JY, Chen WC. Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1? J Am Acad Dermatol 2008;58:493-7.  Back to cited text no. 2
    
3.
Patil K, Mahima VG, Shetty SK, Lahari K. Facial plexiform neurofibroma in a child with neurofibromatosis type I: a case report. J Indian Soc Pedod Prev Dent 2007;25:30-5.  Back to cited text no. 3
[PUBMED]  [Full text]  
4.
Stumpf DA, Alksne JF, Annegers JF et al. NIH Consensus Development Conference: neurofibromatosis conference statement. Arch Neurol 1988;45:575-8.  Back to cited text no. 4
    
5.
Tejaswi H, Rangaraj M, Karthikeyan K. Giant café au lait macule in an infant. Indian J Paediatr Dermatol 2015;16:268-70.  Back to cited text no. 5
  [Full text]  
6.
Singh P, Sureka B, Mittal MK, Thukral BB. Giant lumbosacral plexiform neurofibroma without associated neurocutaneous syndrome: an unusual presentation. J Mahatma Gandhi Inst Med Sci 2017;22:34-7.  Back to cited text no. 6
  [Full text]  
7.
Ducatman BS, Scheithauer BW, Piepgras DG, Reiman HM, Istrup DM. Malignant peripheral nerve sheath tumors. Cancer 1986;57:2006-21.  Back to cited text no. 7
    
8.
Choudhary SV, Dhope AA, Singh R, Tidke P. Plexiform neurofibroma overlying giant café-au-lait macule. Indian Dermatol Online J 2017;8:159-60.  Back to cited text no. 8
[PUBMED]  [Full text]  
9.
Park SJ, Sawitzki B, Kluwe L et al. Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors. BMC Med 2013;11:109.  Back to cited text no. 9
    
10.
Friedrich RE, Schmelzle R, Hartmann M, Fünsterer C, Mautner VF. Resection of small plexiform neurofibromas in neurofibromatosis type 1 children; World J Surg Oncol 2005;3:3-6.  Back to cited text no. 10
    
11.
Needle MN, Cnaan A, Dattilo J et al. Prognostic signs in the surgical management of plexiform neurofibroma: The Children’s Hospital of Philadelphia experience, 1974-1994. J Pediatr 1997;131:678-82.  Back to cited text no. 11
    
12.
Dogra BB, Rana KS. Facial plexiform neurofibromatosis: a surgical challenge. Indian Dermatol Online J 2013;4:195-8.  Back to cited text no. 12
[PUBMED]  [Full text]  
13.
Wei J, Freytag M, Schober Y et al. Nilotinib is more potent than imatinib for treating plexiform neurofibroma in vitro and in vivo. PLoS One 2014;9:e107760.  Back to cited text no. 13
    
14.
Citak EC, Oguz A, Karadeniz C et al. Management of plexiform neurofibroma with interferon alpha. Pediatr Hematol Oncol 2008;25:673-8.  Back to cited text no. 14
    


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