Interscapular Freckling and Comedone-like Lesions in Neurofibromatosis Type 1 with Associated Intestinal Complications

Dear Editor, A 33-year-old male patient presented with abdominal pain, nausea, and vomiting for three days. Over the previous four months, there have been several episodes of similar complaints, including constipation and blood-stained stools. On examination, the patient was afebrile, and the abdomen was distended and tender, with decreased bowel sounds. The results of routine hematological tests were within normal range. A roentgenogram of the erect abdomen showed dilated bowel loops and multiple air-fluid levels [Figure 1a]. An abdominal computed tomography (CT) scan revealed multiple dilated small bowel loops of size ranging from 30 mm to 40 mm, suggesting intestinal obstruction [Figure 1b and c]. An exploratory laparotomy was performed on the patient. Upon exploration, about 30 cm of jejunal loop was found to be telescoped into its proximal segment(jejuno-jejunal intussusception). On searching for a pathological lead point, two polypoidal growths were found [Figure 2a]. After resecting around 15 cm of the colon, including the polypoidal growths, a jejuno-jejunal anastomosis had been performed [Figure 2b]. Histopathological examination of the resected sample revealed the intestinal wall with submucosa having thin, spindle-shaped cells with elongated, wavy nuclei intermixed with collagenous strands and increased cellularity, which was compatible with neurofibroma[1,2] [Figure 3a-c]. The patient was referred to the dermatology OPD for the skin lesions.Figure 1: (a) X ray of erect abdomen showing dilated bowel loops with air fluid levels. (b) Computed tomography scan of abdomen showing small bowel obstruction in coronal plane. (c) Computed tomography scan of abdomen showing small bowel obstruction in axial planeFigure 2: (a) Intraoperative image of the intussuscepted portion of jejunum with the swelling (neurofibroma) in the intestinal wall. (b) Resected portion of the bowel with the neurofibroma (left side)Figure 3: (a) Histopathology of the resected portion showing layers of jejunum with increased cellularity containing loosely spaced spindle cells in a mucinous stroma. (b) Submucosa showing thin spindle shaped cells with wavy collagen bundles. H and E stain 10x magnification. (c) Cells with elongated wavy nuclei and pale cytoplasm (40x)On dermatological examination, there were multiple cutaneous neurofibromas distributed across the trunk, limbs, and extremities [Figure 4]. Multiple café-au-lait macules (greater than six in number) with diameters >1.5 cm were observed. Axillary, inguinal, and palmar freckling were also observed. Ophthalmological examination revealed multiple Lisch nodules on the iris [Figure 5]. An X-ray of the long bones and CT scan of the head and neck were normal. No neurological abnormality was found. The patient's mother also had manifestations of NF-1. The diagnosis of NF-1 was made based on the presence of five of the seven NIH diagnostic criteria. In addition, the patient had prominent freckling in the interscapular region [Figure 6]. Two cutaneous neurofibromas—one on the right shoulder and another on the left lower back—displayed follicular dilatation and plugging, resembling comedones over their surface [Figure 7]. Given these findings, a final diagnosis of NF1 with small bowel intussusception (secondary to intestinal neurofibroma) was made. The patient was followed up after 6 months with a colonoscopy, which did not reveal any recurrence. He was advised regular follow-up.Figure 4: Clinical image of the patient showing multiple cutaneous neurofibromas with cafe au lait macules. Note the midline laparotomy incision scarFigure 5: Multiple Lisch nodules in the left eyeFigure 6: Prominent freckling in the interscapular regionFigure 7: Multiple comedone-like lesions with follicular plugging over the cutaneous neurofibromaIntestinal neurofibromas are the most common abdominal neoplasms in NF1, and they are predominantly located in the jejunum or ileum and are asymptomatic. Complications of gastrointestinal neurofibromas are rare.[2] It is uncommon for intestinal neurofibromas to manifest as bowel obstruction. Only about twenty-five of such scenarios have been reported so far.[3] In NF1, prominent freckling in the interscapular region has not been previously documented. Comedone-like changes are also rare in cutaneous neurofibromas, which is considered to be a stimulation phenomenon suggesting their role in many cutaneous epithelial hyperplasias, hamartomas and some neoplasms. Only two such cases have been reported.[4,5] This case is reported owing to the interscapular freckling, comedone-like lesions and neurofibroma-induced intussusception that are rarely associated with NF-1. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published, and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.