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Review Article Anupriya D et al. Orofacial Syndromes. Journal of Advanced Medical and Dental Sciences Research @Society of Scientific Research and Studies NLM ID: 101716117 Journal home page: www.jamdsr.com doi: 10.21276/jamdsr Index Copernicus value = 85.10 (e) ISSN Online: 2321-9599; (p) ISSN Print: 2348-6805 Review Article Orofacial Syndromes Part II D.Anupriya1, S.Krithigaa2, Harinipriya A.H3, Sathish Muthu Kumar4, Merlin Jayaraj5, Serena Florence Francis6 1,2Post Graduate, 3,5,6Assistant Professor, 4Professor & Head, Department of Oral & Maxillofacial Pathology, Chettinad Dental College & Research Institute, Kancheepuram, Chennai, Tamil Nadu, India Received: 02/05/2020 Accepted: 24/06/2020 Corresponding Author: Dr.D.Anupriya, Department of Oral Pathology, Chettinad Dental College & Research Institute, Chettinad Health City, Rajiv Gandhi Salai, Kelambakkam, Kanchipuram district, Chennai – 603103 This article may be cited as: Anupriya D, Krithigaa S, AH Harinipriya, Kumar SM, Jayaraj M, Francis SF. Orofacial Syndromes Part II. J Adv Med Dent Scie Res 2020;8(7):132-138. INTRODUCTION keratoacanthoma (KA) with sebaceous Syndromes is a group of deformations and differentiation.) And a minimum of one internal malformation sequences, etc. that occur together due malignancy (colorectal, genitourinary, breast to some identifiable underlying cause. It is defined as carcinoma, hematological disorders, endometrial “The aggregate of signs and symptoms associated carcinoma, and rarely gastric carcinoma). with any morbid process and constituting together the Oral manifestation (O/M)- Salivary gland tumors, picture of the disease and related to each other Keratoacanthoma. anatomically, biochemically or physiologically”. They are caused by chromosomal anomalies, single gene Murray–Puretic–Drescher syndrome / Juvenile mutations, teratogens, or other causes. The head and hyaline fibromatosis / Fibromatosis hyalinica neck region constitutes a wide variety of syndromes multiplex juvenilis / Systemic hyalinosis2 and this article aims to give a brief update on the E/P - Autosomal recessive disease – mutant gene - etiopathogenesis, clinical features and oral 4q21- Abnormal biosynthesis of glycosaminoglycans manifestations of various orofacial syndromes which and collagen III- VI would be helpful for early diagnosis. C/F - Papules distributed around the nose, the ears, in the genital area and on the thighs, Excessive skin MATERIALS & METHODS stretching, rogressive joint involvement, joint A systematic review from pertinent English literature contractures and cutaneous thickening was performed using Medline (through http:// O/M - Gingival hypertrophy www.ncbi.nlm.nih.gov/pubmed/). The search strategy included the combinations of Orofacial OR syndrome Nevoid Basal Cell Carcinoma Syndrome (NBCCS) / AND each of the relevant clinical features and oral basal cell nevus syndrome (BCNS) / Gorlin-Goltz manifestations were used. The reference sections of syndrome / Gorlin syndrome / Hermans-Herzberg identified manuscripts were also explored for relevant phakomatosis3 reports and additional information. E/P - Rare, complex genetic disorder - autosomal 1 dominant - mutations in the PTCH1 gene Muir Torre Syndrome C/F - Basal cell carcinomas, multiple distinctive Etiopathogenesis (E/P)– Autosomal dominant - palmar pits, calcification of the structures in the brain Germ-line mutations in hMSH2 and hMLH1 genes - including the dura mater, the outermost layer of the alteration or inactivation of tumor suppressor genes. three membranes that cover the brain and spinal cord. Clinical features (C/F)- At least a single sebaceous O/M - Recurrent keratocystic odontogenic tumors of gland tumor (sebaceous adenoma, sebaceous the jaws carcinoma, sebaceoma (sebaceous epitheliomas) and 132 Journal of Advanced Medical and Dental Sciences Research |Vol. 8|Issue 7| July 2020 Anupriya D et al. Orofacial Syndromes. Numb Chin Syndrome / mental nerve neuropathy4 C/F - epistaxis that begins during childhood or E/P - Numb chin syndrome (NCS) is a rare sensory adolescence at a mean age of 12 years. neuropathic condition that can be associated with Telangiectasias do not usually appear until after many local or systemic causes. puberty but may not occur until adulthood C/F - NCS is also referred to as mental nerve O/M - They typically occur on the face, lips, tongue, neuropathy because the facial numbness occurs along palms, and fingers including the periungual area and the distribution of the mental branch of the inferior the nail bed. Telangiectasias are dilated blood vessels alveolar portion of the trigeminal nerve. that appear as thin spiderweb-like red and dark purple O/M- unilateral hypoesthesia, dysesthesia, or lesions that blanch with pressure. AVMs are paresthesia that is localized to the chin, jaw, or lower abnormal connections between arteries and veins that lip, and may be accompanied by an abnormal bypass the capillary system. sensation of “thickening” of the lower lip, which is Papillon–Lefèvre syndrome8 similar to the experience of dental anesthesia E/P- Autosomal recessive inherited disorder of Oculocerebrocutaneous syndrome (OCC) / Delleman keratinization - mutations in cathepsin C (CTSC) Oorthuys syndrome / orbital cyst with cerebral and gene, immunologic alterations, and the role of bacteria focal dermal malformations5 C/F- Diffuse palmoplantar keratoderma, E/P - Rare genetic disorder, geneticists suggest that hyperhidrosis, arachnodactyly, intracranial OCC syndrome is caused by a genetic change (a calcification, increased susceptibility to infections, mutation) that appears to be present in part of the cells and mental retardation of the body only (somatic mosaicism). The exact O/M- Precocious aggressive periodontitis, leading to cause of OCC is still unknown and difficult to premature loss of deciduous and permanent dentition determine. at a very young age. C/F - orbital cyst with periorbital skin appendages which may be associated with anopthalmia or Paraneoplastic autoimmune multiorgan syndrome9 microphthalmia, major cerebral malformation, and E/P- The exact pathogenetic mechanisms of PAMS focal dermal hypoplasia or aplasia. Characteristic of are still unknown this syndrome are pink-colored or flesh-colored C/F- Skin manifestations i) pemphigus-like, ii) outgrowths of skin (cutaneous tag) within certain bullous pemphigoidlike, iii) erythema multiforme- facial areas, most commonly the periocular area. like, iv) graft-vs-host disease-like and v) lichen O/M - Delleman Oorthuys syndrome shows planus-like overlapping clinical features with Goldenhar O/M- Persistent, painful erosions and ulcerations, syndrome and Goltz syndrome affecting the gingivae, the lateral borders of the 6 tongue, and subsequently extend to the entire oral Oculo glandular syndrome of Parinaud cavity and the vermilion border of the lips, usually in E/P - Rare eye disease caused by different etiologic the form of crusts, resembling erythema multiforme or agents, including bacteria, viruses (herpes simplex even advanced cases of Stevens-Johnson syndrome virus) and fungi (sporotrichosis (S. schenckii), blastomycosis (Blastomyces dermatitidis) and Parry-Romberg Syndrome / Progressive hemifacial coccidioidomycosis (Coccidioides immitis) atrophy10 C/F - Granulomatous conjunctivitis, accompanied by E/P - The etiology of hemifacial atrophy has been the adjacent preauricular lymphadenopathy which is subject of numerous theories, which include heredity, almost always caused by local trauma viral infection, trauma, endocrine disturbances, O/M - The preauricular and submandibular lymph autoimmunity, sympathetic malfunctions, trigeminal nodes are grossly enlarged and may suppurate neuritis, and association with a connective tissue disorder, particularly scleroderma. Osler–Weber–Rendu syndrome / Hereditary C/F- Uncommon degenerative condition hemorrhagic telangiectasia (HHT) / Osler–Weber– characterized by a slow and progressive atrophy, Rendu disease7 generally unilateral, of facial tissues, including E/P - Rare autosomal dominant genetic disorder that muscles, bones, and skin leads to abnormal blood vessel formation in the skin, Some patients present a demarcation line between mucous membranes, and often in organs such as the normal and abnormal skin, reminding a big linear lungs, liver, and brain. scar, known as “coup de saber” 2 types – HHT1 & HHT2 O/M- Mouth and nose are deviated to the affected HHT1 - mutation in endoglin (ENG). With this type, side, deviating also facial and dental midlines. patients, especially women, are at a higher risk of Atrophy of superior lip led the anterior teeth to be getting pulmonary and cerebral AVMs exposed, and there may be also unilateral atrophy of HHT2 - mutation in activin A receptor-like type 1 tongue. (ACVRL1), also known as ALK1. Patients with HHT2 have a higher risk of getting liver AVMs 133 Journal of Advanced Medical and Dental Sciences Research |Vol. 8|Issue 7| July 2020 Anupriya D et al. Orofacial Syndromes. Peutz-Jeghers syndrome / intestinal polyposis- Popliteal pterygium syndrome16 cutaneous pigmentation syndrome / periorificial E/P - Mutations in the IRF6 gene lentiginosis syndrome / Peutz-Jeghers polyposis / C/F - Webs of skin on the backs of the legs across the polyps-and-spots syndrome11 knee joint, E/P - Autosomal dominant - development of O/M – Cleft lip, Cleft palate noncancerous growths called hamartomatous polyps in the gastrointestinal tract Proteus syndrome17 Mutations in the STK11 gene (also known as LKB1) E/P - Unknown C/F - Abdominal pain, intestinal bleeding,
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