Vol 43 # 2 June 2011 - Kma.org.kw

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130 KUWAIT MEDICAL JOURNAL June 2011 Case Report Multifocal Solitary Subungual Glomus Tumors in a Patient with Neurofibromatosis Type 1 Sabyasachi Ghosh 1 , Mohammad Abdur Rashid 2 , Ravidran Gopal 3 1 Physical Medicine and Rehabilitation Hospital, Kuwait 2 Department of Plastic Surgery, PARAS Central Hospital, Sakaka, Al-Jouf, Kingdom of Saudi Arabia 3 Department of Pathology, PARAS Central Hospital, Sakaka, Al-Jouf, Kingdom of Saudi Arabia ABSTRACT Kuwait Medical Journal 2011; 43 (2): 130-132 We report a case of multifocal solitary glomus tumors in a patient with neurofibromatosis type 1. A 63-year-old female patient presented with severe pain in left ring finger and moderate pain in left little finger for past six years. Clinically, we diagnosed the case as neurofibromatosis type 1 with multifocal solitary glomus tumors. Patient underwent surgery for removal of glomus tumors from the affected two fingers as well as for two nodules in the face for cosmetic reason on patient’s request. Typical pearl-like nodular glomus tumor was visible macroscopically during operation on the left ring finger, but not well defined in the left little finger. Histopathologically, they were glomus tumors. One of the two nodules removed from the face showed typical neurofibromatosis histopathologically and another showed sebaceous lesion. Postoperative follow up was uneventful and pain was relieved completely. KEYWORDS: neoplasms, neurofibroma, vascular INTRODUCTION Neurofibromatosis is an autosomal dominant disorder with two major subtypes: neurofibromatosis type 1, which is the most common subtype and is referred to as peripheral neurofibromatosis, and neurofibromatosis type 2, which is referred to as central neurofibromatosis. Two variants of glomus tumors exist: solitary glomus tumors and multiple glomus tumors, which are also known as glomangiomas or glomulovenous malformations. Each variant has distinct clinical and histopathologic characteristics. Phalangeal glomus tumour is a benign tumor that develops from the neuromyoarterial elements of the glomus body, which is a specialized arteriovenous anastomosis involved in thermoregulation. Control of the function of the arteriovenous anastomoses is mainly neural. Most glomus tumors are localized in the distal phalanx. It is a small tumor with a subungual or pulpar localization and with typical symptoms consisting of the triad of pain, cold intolerance, and very localized tenderness [1] . Most cases of phalangeal glomus tumors are solitary. Multiple glomulovenous malformations of the skin show autosomal dominant inheritance [2] and are linked to the chromosome 1p21- 22 region [3] . The abnormalities in the skin consist of cutaneous venous malformations with smooth musclelike glomus cells. The gene involved in this familial condition has been cloned and named glomulin [4] . Glomulovenous malformations of the skin are clinically and etiologically different from the sporadic glomus tumors of the distal phalanx. We report a case of multifocal solitary glomus tumors in a patient with neurofibromatosis type 1. CASE REPORT A 63-year-old Saudi female patient was referred to our Physical Medicine and Rehabilitation Department, Prince Abdur Rahman Al Suderi Hospital, Sakaka, Saudi Arabia for nerve conduction study with a probable diagnosis of neuropathy. Her presenting complaint was severe pain in the left ring finger and moderate pain in the left little finger for the last six years. Her daily activity was affected due to the severe pain. She had a history of attending various medical facilities in different places without any relief of pain. Clinically, we diagnosed the case as neurofibromatosis type 1 with multifocal solitary glomus tumors. Neurofibromatosis type1 was diagnosed by following clinical criteria - more than six cutaneous café au lait spots, iris Lisch nodules, axillary freckling, and cutaneous neurofibromas. Glomus tumors were diagnosed clinically by the existence of the three painful symptoms: spontaneous pain, pain on exposure to the cold and pain on pressure (positive Love test). We could not find the characteristic discoloration of nail bed because patient was using henna, a locally popular deep brown cosmetic coloring Address correspondence to: Dr.Sabyasachi Ghosh, Physical Medicine and Rehabilitation Hospital, Sulaibikhat, Kuwait. Tel: 24890287, Mobile: 97677590, E-mail: sabyghosh@yahoo.com
June 2011 KUWAIT MEDICAL JOURNAL 131 Fig. 1: Bluish purple lesion can be seen in the ring and little finger nail beds agent for nails. Nerve conduction study for upper limb was normal. Unfortunately we could not perform MRI for this patient. We told her not to use henna again and come back to our department once the henna grows out. She came back after five months for re-evaluation when henna could not be seen anymore. We observed the bluish purple discoloration under the nail beds with nail deformities in the affected fingers (Fig. 1), reconfirming the case clinically as a multifocal solitary glomus tumor in a case of neurofibromatosis type 1. Patient underwent surgery for removal of glomus tumors from the affected two fingers as well as for two nodules on the face for cosmetic reason on patient’s request. Typical pearl like nodular glomus tumor was visible during operation (Fig. 2) in left ring finger, but not well-defined in left little finger. Histopathologically, we found that the solitary lesions appeared mostly as solid well-circumscribed nodules surrounded by a rim of fibrous tissue. They contained endotheliumlined vascular spaces surrounded by clusters of glomus cells. The glomus cells were monomorphous Fig. 3: The glomus cells with monomorphous round and polygonal cells with plump nuclei and scant eosinophilic cytoplasm Fig. 2: Solitary well circumscribed pearl like tumor can be seen on the dissected flap round or polygonal cells with plump nuclei and scant eosinophilic cytoplasm (Fig. 3). Findings were similar in both the removed glomus tumors. One of the two nodules removed from the face showed typical neurofibromatosis histopathologically, and another showed sebaceous lesion. Postoperative follow up was uneventful and the pain was relieved completely. Her activities of daily life also improved dramatically. DISCUSSION Subungual glomus tumors are usually solitary and the association of multifocal solitary glomus tumors with neurofibromatosis type 1 has only rarely been reported [5-7] . Multifocal phalangeal glomus tumors in several patients with neurofibromatosis type 1 suggest that this is not an incidental association but that neurofibromatosis type 1 patients have an increased incidence of glomus tumors. Smet et al hypothesized that glomus cells are of neural crest origin [8] . Neural crest stem cells can be isolated from mammalian fetal peripheral nerves. Neural crest stem cells form three different cell types in culture - neurons, Schwann cells, and smooth muscle-like myofibroblasts [9] . These myofibroblasts are positive for alpha-smooth muscle actin and might be the precursors of the alpha-smooth muscle actin positive glomus cells in the glomus organ of the nail bed. Therefore, it is possible that a second hit in the neurofibromatosis type 1 gene in a alphasmooth muscle actin positive glomus cell results in a glomus tumor in neurofibromatosis type 1 patients in a similar way as a second hit in a Schwann cell is responsible for a neurofibroma [8] . Average delay in the diagnosis of glomus tumor is two and half years [10] . In another study, the time to surgery from the onset of symptoms ranged from six months to 30 years [11] . In our patient, diagnosis may have been delayed due to the habit of using henna by the patient, camouflaging the characteristic bluish
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