Case Report
Austin J Clin Case Rep. 2021; 8(1): 1191.
A Child Presented with Clitoromegaly in Context with Neurofibromatosis Type 1
Zeindine Sirena¹* and Al Ebrahem Asad²
¹Faculty of Medicine, Damascus, Syria
²Department of Pediatrics University Hospital, Damascus, Syria
*Corresponding author: Zeindine Sirena, Faculty of Medicine, Damascus, Syria
Received: December 15, 2020; Accepted: January 12, 2021; Published: January 19, 2021
Abstract
Neurofibromatosis type 1, also called Von Recklinghausen Disease is a genetic disorder characterized by the development of multiple benign tumors affecting the skin and nervous system. It is a genetic disease with a prevalence of one case in 3000 births. The cause of VRD is a genetic mutation [1-4]. In half of all cases of NF1, the faulty gene is passed from a parent to their child. Clitoromegaly presenting in childhood can be congenital or acquired. Nonhormonal causes like NF1, epidermoid cysts, tumor syndromes have been reported [5]. Clitoris enlargement is a frequently seen congenital malformation, but acquired clitoral enlargement is rarely detected.
While most cases of VRD are the result of a genetic mutation in the neurofibromin gene, there are also acquired cases due to spontaneous mutations [4]. The pathological alterations behind it begin in the embryonic period, prior to differentiation of the neural crest. We report a case of 6.5 year - old - female admitted for clitoromegaly and an apparent deformity of the genital organs.
The girl has been diagnosed with clitoromegaly in the context of NF1 Disease. This patient was successfully treated by clitoroplasty. The biopsied clitoral tissue was sent to pathology and revealed plexiform neurofibroma.
Keywords: NF1; Von Recklinghausen Disease; Clitoromegaly; Clitoroplasty; Child
Introduction
NF1 or Von Recklinghausen disease is an autosomal dominant disorder with a basic defect in the embryonic neural crest cells. The plexiform neurofibroma is a diffuse, elongated fibroma along the course of a nerve, frequently involving the trigeminal or upper cervical nerves and usually noticeable within the first 2 years of life [6].
Figure 1: (a) clitoromegaly before surgery (b) after clitoroplasty.
Figure 2: Plexiform neurofibroma.
Beginning in early childhood, patients with NF1 have multiple cafe-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individual grows older. Axillary and groin freckles typically develop later in childhood [7].
We report an unusual case of a plexiform neurofibroma with clitoromegaly in a 6.5 years-old child in context with NF1.
Case Report
A 6.5 year- old- girl presented with external genital organs deformity, gradual enlargement of the clitoris and recurrent abdominal pain in the last years. The mother mentioned a history of recurrent diarrhea episodes and underwent a medical consultation to rule out celiac disease which was then excluded by investigations.
In addition, the mother mentioned that her daughter experienced gradual appearance of hyper pigmented lesions on trunk and a gradual enlargement in clitoris during the last years.
And when asking the mother about familial diseases she mentioned a case of Von Recklinghausen in a 3rd degree relative.
The spiritual-kinesthetic development is normal Birth conditions are normal.
Weight 20 kg (0 standard deviation).
Height 120.5 cm (0 standard deviation).
Height for age growth is within normal.
Otherwise, the child girl is in good health.
Ophthalmological Status
Ophthalmic examination with slit lamp is normal.
Visual examination is normal with visual ability 10/10 in both sides with absence of Lisch nodules post Slit-lamp examination.
Physical examination.
Dermatological status:
8-9 Cafe au lait patches (size 1-2 cm) on trunk, multiple freckles on axillary, trunk and inguinal region.
No symptoms of hyperandrogenism.
The bone age matches the clinical one.
Lab and Imaging Studies, Histological Findings and Consultations
The standard laboratory tests values were in the normal range with the only exception of high levels of DHEA (52.91 μg/dl).
Hand X-Ray photography was within the normal too.
Abdomenopelvic ultrasound was done and showed normal internal genital organs.
The histological result revealed plexiform neurofibroma.
Discussion
Von Rcklinghausen disease is a multisystem disorder affecting approximately 1 in 3000 people in South East Wales. The symptoms [4] usually appear in childhood and progress with time, and the criteria of VRD are Table 1.
• Family history of NF.
• 6 or more cafe- au-lait patches which are hyper pigmented lesions in different sizes and shapes mainly on trunk.
• 2 or more Freckles in the axillary or inguinal area.
• Lisch nodules which are hamartomas of the iris and they are best diagnosed with slit-lamp examination.
• Cutaneous Neurofibromas that may not appear till puberty and increase in number and size with age.
• Plexiform neurofibromas which are tumors affecting the nerving bundles.
• Optic nerve tumors that may affect vision.
Neurofibromatosis type 1 represents a major risk factor for development of malignancy, particularly malignant peripheral nerve sheath tumors, optic gliomas, and leukemias [7].
Tumors can be treated by several methods, including: [4]
• Laparoscopic removal of cancerous tumors.
• Surgery for removal of tumors affecting the nerves.
• Radiation therapy.
• Chemotherapy.
Overall, prognosis is good but significant morbidity is common [3].
In our case, the patient complained of clitoromegaly since birth with gradual enlargement with years and gradual appearance of multiple cafe-au-lait patches and multiple freckles on trunk, and a positive family history of NF1.
The patient was successfully underwent clitoroplasty by preserving the glans of the clitoris and neurovascular bundles [1], and the excision tissue was sent to pathology.
She was followed up after the operation; there was no early or late post-operative complication.
Conclusion
NF1 is a multisystem disorder requiring management by multiple disciplines, often coordinated through a primary care physician or a geneticist [7].
The goal of clitoroplasty is to reduce the size of the genital tubercle to give a feminine appearance without compromising future sexual function [2].
After reviewing this case, we recommend that the management of a clitoral neurofibroma consists of surgical excision with all attempts to preserve the clitoris and its adjacent neurovascular structures without compromising future sexual function [1,8-11].
Acknowledgement
I would like to thank Professor Asad al Ebrahem for his help and support throughout this work.
Statement of Ethics
Informed consent was taken for this research. Our study ethical aspects were reviewed and approved by Damascus University, Deanship, Damascus, Syria.
References
- Bilommi RD. Clitoroplasty in neurofibromatosis presenting as clitoromegaly. J. of Pediatric surgery case reports 2015 Mar Neha R.M, Earl Y.C. Clitoroplasty. ELSEVIER J. 2018.
- https://www.sciencedirect.com/topics/medicine-and-dentistry/clitoroplasty
- Pr Eric Legius. Neurofibromatosis type 1. Orpha net Report Series. July 20.
- https://www.orpha.net/consor/cgibin/Disease_Search.php?Ing=EN&data_ id=185&Disease_Disease_Search
- Steve K. Von Recklinghausen’s Disease (Neurofibromatosis 1) Healthline. 2017.
- https://www.healthline.com/health/neurofibromatosis-1#TOC_TITLE_HDR_1
- Meenal G, Vincent H, Abhishek S, Duong Tu, Yemi AF and Lefkothea PK. Persistent progressive clitoromegaly is not always hormonal. Oxford academic J. 2020.
- https://academic.oup.com/jes/article/4/Supplement_1/MON-064/5833704
- Neurofibromatosis type 1. Rook medical textbook of dermatology. 2016.
- https://www.rooksdermatology.com/manual/c80-sec-0007
- Chouaib Sayah, Mahmoud Benmahmoud, Smain Ait Yahia and Zineddine Soualili. Neurofibromatosis Type 1 (NF1): Case Report and Review of literature. 2016.
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