Case Report Volume 17 Issue 3 - September 2018 DOI: 10.19080/GJO.2018.17.555965 Glob J Otolaryngol Copyright © All rights are reserved by Waleed M Alshehri Waleed M Alshehri* 1 , Khalid Murrad 2 , Muath Hakami 2 , Mohamed Amir Mrad 2 and Manea K Alanezi 1 1 Department of Otolaryngology, King Faisal Specialist Hospital, Riyadh, Saudi Arabia 2 Department of Plastic Surgery, Saudi Arabia Submission: August 31, 2018; Published: September 07, 2018 *Corresponding author: Waleed M Alshehri, Department of Otolaryngology, King Faisal Specialist Hospital, Riyadh, Saudi Arabia, Email: Glob J Otolaryngol 17(3): GJO.MS.ID.555965 (2018) 001 Introduction Hyalinosis (ISH) is an inherited autosomal recessive disorder that affects the connective tissue. Juvenile hyaline fibromatosis (JHF) equally affects both sexes and is commonly diagnosed during early childhood; however, fewer cases are reported in adult life [1,2]. The first case of JHF was diagnosed in 1873 and was named molloscum fibrosum by Murray [3]. Later, in 1972, the condition was renamed JHF by Kitano et al. [4]. The main clinical features of infantile systemic ISH included diffusely thickened, inflexible skin, papular skin lesions, hyperpigmentation over the metacarpophalangeal joints of the hands and malleoli, gingival hyperplasia, perianal nodules, limitations of joint motility, osteoporosis of bones, bone fractures, short stature, persistent diarrhea, and failure to thrive [5-7]. JHF is characterized by hypertrophy of the gingiva; joint deformity; flexion contractures; the presence of bone lesions, osteopenia, and hyaline material deposition in the extracellular spaces of the dermis and soft tissues; and stunted growth [2,8,9], with researchers identifying impaired collagen synthesis as underpinning the development of JHF [10]. Two forms of the disease exist: a localized form with very slow growth and a diffuse form with rapidly growing, large tumors [11]. Case Presentation A 2-year-old girl presented to the outpatient clinic due to her failure to thrive, which was first document at an age of 11 months. The girl was conceived in a first-degree consanguineous marriage. The course of pregnancy was normal and her birth weight was 3200g. She was exclusively breast fed and refused all other formula or food. She exhibited delayed growth and development, was only able to sit, and could only say two words: “DA” and “MA.” Upon examination, her weight and height were below the third percentile for age, while her head circumference was in the 5th percentile for her age. The patient had dysmorphic features, including epicanthal folds and skin nodules in the upper lip with gingival hyperplasia (Figure 1) as well as mild bed sores affecting her back and buttocks with perianal erythematous nodules. There were no audible cardiac murmurs and organomegaly was detected. Stiffness contracture was observed on both the upper and lower limbs with a flexion deformity affecting both knee joints. Her hip joints were in an abduction position and were not dislocated. Skeletal survey revealed generalized osteopenia, dysplasia in both structures, and symmetrical erosions in the medial aspect of the proximal metaphysis of both tibias. Results of basic hematologic and biochemical investigations were normal except for hypothyroidism. Her bone profile revealed normal calcium and phosphorus levels. Magnetic resonance imaging revealed a soft tissue mass that involved her upper lip measuring 21×36×26mm (anteroposterior × transverse × craniocaudally, respectively) in size. It exhibited an intermediate signal on T2 and a low signal on T1 imaging with homogeneous enhancement with contrast. A similar, but smaller, mass was observed to be involved with her lower lip. It measured approximately 16×22× 22mm in size (Figures 2 & 3). The underlying bone was intact with no erosive changes. Bilateral intra-articular lesions were observed within the temporomandibular joints with a high signal on T2 and a low signal on T1 imaging, with enhancement with contrast. The lesion on the right and left sides measured approximately 11× 16mm and 6×12 mm (anteroposterior × transverse), respectively. The patient underwent debulking of tissue under general anesthesia Global Journal of Otolaryngology ISSN 2474-7556 Juvenile Hyaline Fibromatosis with Facial Involvement Rare Case Report Abstract Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare conditions of unknown origin characterized by delayed growth, gingival hypertrophy, papular skin lesions, and joint deformity. In this article, we describe the rare case of a patient with upper gingival hyperplasia who was referred to the plastic surgery for consultation and surgical intervention. The patient was treated surgically and histopathologic findings was consistent with the characteristics of juvenile hyaline fibromatosis.