1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56
CRANIOMAXILLOFACIAL DEFORMITIES/COSMETIC SURGERY
Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis—A Case Report Ewa Krasuska-Sławi nska, PhD, DDS,* Dariusz Polnik, PhD, MD,y Dariusz Rokicki, PhD, MD,z and Bogumiła Koeber, DDSx
Q7
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder caused by a mutation in the ANTXR2 gene encoding a transmembranous protein involved in endothelial development. The ANTXR2 (also known as CMG2) locus is on chromosome 4q21. ISH is a common disorder in children of consanguineous parents in Arab countries. Symptoms of ISH manifest within the first months of life as progressive painful joint contractures and edema, hyperpigmentation of the skin, cutaneous nodules, persistent diarrhea with protein-losing enteropathy, and recurrent infections. Children affected by ISH often die undiagnosed in infancy. Histopathologic examination shows hyaline deposits in the skin, skeletal muscles, cardiac muscle, lymph nodes, adrenal glands, gastrointestinal tract, thyroid, and spleen. Hyaline deposits are the result of leakage of plasma components to the perivascular space owing to defective endothelial morphogenesis. ISH manifests most often in the facial region. Patients develop hypertrophy of labial and buccal tissues and massive gingival overgrowths, which impair oral food intake and maintenance of satisfactory oral hygiene. The differential diagnosis of ISH should consider juvenile systemic hyalinosis (an allelic variant of ISH), Winchester syndrome, systemic fibromatosis, stiff skin syndrome, lipoid proteinosis, mucopolysaccharidosis, sphingolipidosis, and mucolipidosis. This report describes a case of massive labial and gingival hypertrophy in a 6-year-old boy with ISH. Ó 2015 American Association of Oral and Maxillofacial Surgeons J Oral Maxillofac Surg -:1.e1-1.e5, 2015 Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder.1-5 It manifests during the first months of life and includes joint contractures, hyperpigmentation, cutaneous nodules, persistent diarrhea with protein-losing enteropathy, and infections.2-4 Children with ISH often die in infancy. In the facial region, ISH manifests as massive overgrowths of soft tissues.1,5-7 ISH is allelic to juvenile hyaline fibromatosis, which develops in older patients with milder symptoms.2,8,9 It is a common disorder in children of consanguineous parents in Arabic countries.1,9-11 This report describes the case of one of the longest living patients with ISH. Owing to the patient’s lifespan, he developed massive hypertrophy of the gingiva
and labial and buccal tissues that seriously impaired food intake, hygiene, speech, and breathing. Because most patients with ISH die within the first years of life, there is not much data in the literature about treatment. Radiologic diagnosis of ISH is problematic because of joint contractures. Treatment under general anesthesia is impaired because of airway narrowing. The procedure of gingivectomy and reduction of overgrown labial tissues was performed, which resulted in a major improvement in the patient’s comfort.
Received
Memorial Health Institute, Al Dzieci Polskich 20, 04-730 Warsaw,
from
the
Children’s
Memorial
Health
Report of Case A 6-year-old boy was first referred to the department of oral pathology at 2 years of age because of gingival
Institute,
Warsaw, Poland.
Poland; e-mail: [email protected]
*Department Head, Dental Surgery Clinic. yAssistant, Department of Pediatric Surgery and Organ
Received December 11 2014 Accepted June 27 2015 Ó 2015 American Association of Oral and Maxillofacial Surgeons
Transplantation. zAssistant, Department of Metabolic Diseases.
0278-2391/15/00913-1
xResident, Dental Surgery Clinic.
http://dx.doi.org/10.1016/j.joms.2015.06.176
Address correspondence and reprint requests to Dr KrasuskaS1awi nska: Department of Dental Surgery Clinic, The Children’s
1.e1 CRP 5.2.0 DTD YJOMS56903_proof 21 July 2015 5:42 am CE AH
57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112
Q3
hypertrophy impairing proper nutrition. The child was diagnosed with ISH at 12 months old, when the presence of mutation 1601PinsC was detected on 2 alleles. Extraoral examination showed a mild eminence of the subnasal area and a firm and elastic overgrowth of the lower lip. Intraoral examination showed massive hypertrophy of the gingiva completely covering the dentition. After consultation with the physician, a gingivectomy was performed under general anesthesia. The extraction of gangrenous teeth (teeth 61, 71, and 81) also was performed during the procedure. The patient was monitored at the departments of metabolic diseases, endocrinology, and diabetes and oral pathology at the Children’s Memorial Health Institute (Warsaw, Poland). The patient attended his first follow-up appointment 3 months after the gingivectomy. Insufficient hygiene and caries were observed during the examination; however, no gingival overgrowth was detected. Six months after the gingivectomy, further enlargement of the subnasal area and lower lip and mild overgrowths of the upper and lower anterior gingivae were encountered at examination. Oral hygiene was insufficient. The next appointment took place when the patient was 5 years old, at admission to the department of metabolic diseases for recurrent fever of unknown origin. Extraoral examination showed considerable enlargement of the subnasal area and massive enlargement of the lower lip (Fig 1). Hard and elastic soft tissue overgrowths considerably impaired nutrition, oral hygiene, and speech. They also decreased the accuracy of the intraoral examination, impeding assessment of caries in teeth completely covered by gingiva (Fig 2). Radiologic examination also was impeded because joint contractures affected correct positioning during panoramic radiography. Radiographs depicted gangre-
FIGURE 1. Massive labial hypertrophy in a patient with infantile systemic hyalinosis. Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
Q1
web 4C=FPO
Q2
HYPERTROPHY IN INFANTILE SYSTEMIC HYALINOSIS
web 4C=FPO
113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168
1.e2
FIGURE 2. Gingival overgrowth in a patient with infantile systemic hyalinosis. Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
nous teeth that were the possible origin of the pyrexia (Fig 3). The patient also was referred to a laryngologist who could not perform a complete examination because of soft tissue overgrowths. Antibiotic therapy was administered and a gingivectomy under general anesthesia was scheduled. The procedure was meant to include a gingivectomy and the extraction of all gangrenous teeth. However, the patient’s mother did not consent to the extractions; therefore, the procedure was not performed. A month later, the patient was hospitalized because of recurrent fever; antibiotic therapy was implemented. After a comprehensive diagnostic procedure, the pyrexia appeared to have a dental etiology. The parents agreed to a gingivectomy and the extraction of teeth presenting a potential source of systemic infection. Attempts at intubation (direct visualization with laryngoscope) failed because of the bleeding soft tissue lesions within the oral cavity. The vocal cords were not visualized during an attempt at fiberoptic intubation. Because the procedure was not considered life-saving at that time, it was postponed. Antianaerobic chemotherapeutics were included in the antibiotic therapy. Computed tomography was performed to assess the airways in case a tracheotomy might be necessary. Scans showed overgrowths of mandibular and maxillary gingivae within the oral cavity. The hypertrophic tissues presented air bladders. The epiglottis was clearly visible; the trachea presented no obstruction. Two weeks later, another intubation was attempted because of the potential necessity of tracheotomy, to which the parents consented. Retrograde intubation was successfully performed. Polypoid nodosum gingival tissues were excised using bipolar diathermy. Gangrenous radices of all deciduous teeth were extracted. The alveoli were partially sutured. There were no postoperative complications. The episodes of fever resolved.
CRP 5.2.0 DTD YJOMS56903_proof 21 July 2015 5:42 am CE AH
169 170 171 172 173 174 175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224
KRASUSKA-SqAWINSKA ET AL
FIGURE 3. Orthopantomogram of patient showing many deciduous teeth with necrotic and gangrenous pulps.
Q6
Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
potassium infusions. Two days later, the patient was discharged from the intensive care unit and transferred to the clinic of pediatric surgery and transplantation. The sample taken from the lips showed hypertrophy of the sclerosing connective stroma, presenting sclerosing lesions within the neighboring blood vessels. The gingival sample presented nonspecific inflammatory granulations with fibrosis, sclerosis, and ulcerations. However, the inflammation was less severe than in previous biopsies. Eight days after the procedure, the patient reported a wound dehiscence of the lower lip. Examination disclosed a deep rupture with fibrin deposits and massive
web 4C=FPO
The excised tissues were examined histopathologically. Typical hyalinosis symptoms were observed, presenting intense nonspecific inflammation. Maintaining proper oral hygiene, speech, and nutrition remained problematic after care of the oral cavity. The patient presented a major facial proportion disorder. The excision of labial overgrowths under general anesthesia was planned with a plastic surgeon. The procedure was performed when the patient was 6 years old. The overgrowths of the upper and lower lip were excised and the mild gingival hypertrophy of the frontal lower gingiva was removed (Figs 4, 5). After the procedure, the patient presented with hypopotassemia, which was treated with intravenous
web 4C=FPO
225 226 227 228 229 230 231 232 233 234 235 236 237 238 239 240 241 242 243 244 245 246 247 248 249 250 251 252 253 254 255 256 257 258 259 260 261 262 263 264 265 266 267 268 269 270 271 272 273 274 275 276 277 278 279 280
1.e3
FIGURE 4. Labial overgrowth before surgical reduction.
FIGURE 5. Upper and lower lips after surgical reduction.
Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
CRP 5.2.0 DTD YJOMS56903_proof 21 July 2015 5:42 am CE AH
281 282 283 284 285 286 287 288 289 290 291 292 293 294 295 296 297 298 299 300 301 302 303 304 305 306 307 308 309 310 311 312 313 314 315 316 317 318 319 320 321 322 323 324 325 326 327 328 329 330 331 332 333 334 335 336
serosanguineous exudate along the suture on the lower lip. A swab was taken for bacteriologic examination. Antibiotic therapy and ozone therapy were administered, and the wound was cleaned daily until the swab results were announced. Five days later, the wound was cleaned and resutured under local anesthesia and thereafter resulted in proper healing. The patient was discharged. Sutures were removed from a completely healed wound 2 weeks later. The reduction of labial overgrowths considerably improved the patient’s appearance and oral hygiene and allowed intraoral examination. Twelve months after the reduction procedure, no labial overgrowths were observed (Fig 6). Slight gingival hypertrophy of the frontal mandibular section and caries in the first molars were reported at intraoral examination (Fig 7). The patient is being followed at the department of metabolic diseases and the dental surgery clinic.
Q4
Discussion ISH is a rare genetic disorder consisting of an accumulation of hyaline deposits in body tissues. It manifests with cutaneous nodules, joint contractures, gingival hypertrophy, diarrhea, and recurrent infections, with no mental impact. Most reports on ISH are featured in Arabic countries. This could be related to very frequent consanguineous marriages.4,10-12 Children of such parents have healthy siblings5 and siblings with characteristic ISH symptoms.1,13 In the present case, there was no consanguinity between the parents. Gingival and labial hypertrophy is a sign of ISH. It progresses with time. Other signs include joint contractures, skin hyperpigmentation, and nodules, which become more pronounced with time. Most patients with ISH die within the first 2 years of life as a
web 4C=FPO
HYPERTROPHY IN INFANTILE SYSTEMIC HYALINOSIS
web 4C=FPO
337 338 339 340 341 342 343 344 345 346 347 348 349 350 351 352 353 354 355 356 357 358 359 360 361 362 363 364 365 366 367 368 369 370 371 372 373 374 375 376 377 378 379 380 381 382 383 384 385 386 387 388 389 390 391 392
1.e4
FIGURE 7. Intraoral status 1 year after the procedure. Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
result of diarrhea with protein-losing enteropathy and infections.1,5,9,10 In patients who survive infancy and early childhood, the disease progresses. Massive overgrowths of the lips and gingiva are observed in the facial area.1,6 The present case report emphasizes the necessity of a gingivectomy to improve oral hygiene2,5; however, such procedures have not been frequently reported in the literature. Only cases of surgical treatment of labial and gingival hypertrophy in juvenile systemic hyalinosis have been reported.8,14 In the present patient, hypertrophy of the upper and lower lips seriously interfered with routine oral hygiene, food intake, speech, and physical aspect. Gingival overgrowths fully covered the tooth crowns, leading to deep caries and later to pulp necrosis. To eliminate the focus of recurrent fever and limit progress of the lesions, extractions of infectious teeth and reduction of hypertrophic tissues were performed. Procedures in patients with ISH should be performed under general anesthesia, because of their general condition, age, and lesion extent. Intubation, which is necessary for general anesthesia, can be difficult to perform owing to gingival hypertrophy, limited mouth opening, restricted neck movements, and prognathism.15,16 In the present case, elimination of oral infection led to the defervescence and improvement in the patient’s general condition. The reduction of overgrown gingival and labial tissues improved the patient’s visual aspect and quality of speech. The use of retrograde intubation and bipolar diathermia, minimizing blood loss, made the surgery possible. Acknowledgments
FIGURE 6. Upper and lower lips 1 year after the procedure. Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
The authors thank Przemys1aw qaniewski-Wo11k, MD, from the Department of Anesthesiology and Intensive Care, The Children’s Memorial Health Institute; Marek Szczyt, MD, private practice; and Wies1awa Grajkowska, MD, from Department of Pathology, The Children’s Memorial Health Institute for their contributions to this study.
CRP 5.2.0 DTD YJOMS56903_proof 21 July 2015 5:42 am CE AH
393 394 395 396 397 398 399 400 401 402 403 404 405 406 407 408 409 410 411 412 413 414 415 416 417 418 419 420 421 422 423 424 425 426 427 428 429 430 431 432 433 434 435 436 437 438 439 440 441 442 443 444 445 446 447 448
KRASUSKA-SqAWINSKA ET AL
449 450 451 452 453 454 455 456 457 458 459 460 461 462 463 464 465 466 467 468
References 1. El-Kamah G, Mostafa M: Heterogeneity and typical presentation in ISH with severe labiogingival enlargement: First Egyptian report. Dermatol Online J 15:6, 2009 2. Dhingra M, Amladi S, Savant S, et al: Juvenile hyaline fibromatosis and infantile systemic hyalinosis: Divergent expression of the same genetic defect? Indian J Dermatol Venereol Leprol 74:371, 2008 3. Madke B, Kharkar V, Mahajan S, et al: Infantile systemic hyalinosis: A case report and review of literature. Indian Dermatol Online J 1:10, 2010 4. Lindvall LE, Kormeili T, Chen E, et al: Infantile systemic hyalinosis: Case report and review of the literature. J Am Acad Dermatol 58:303, 2008 5. Giri PP, Raushan R, Ghosh A, et al: Infantile systemic hyalinosis case report. Indian Pediatr 49:62, 2012 6. Spiliopoulos M, Jayakar P, Spiliopoulos D: Facial dysmorphism and skin manifestations in a patient with inherited systemic hyalinosis. J Pediatr 160:523, 2012 7. Al-Malik MA, Bahatheq MI, Rehbii ZA: Gingival hyperplasia in hyaline fibromatosis—A report of two cases. J Int Acad Periodontol 9:42, 2007
1.e5 8. Lim AA, Kozakewich HP, Feingold M, et al: Juvenile hyaline fibromatosis: Report of a case and comparison with infantile systemic hyalinosis. J Oral Maxillofac Surg 63:271, 2005 9. Nofal A, Sanad M, Assaf M, et al: Juvenile hyaline fibromatosis and infantile systemic hyalinosis: A unifying term and a proposed grading system. J Am Acad Dermatol 61:695, 2009 10. Al-Mayouf SM: Familial arthropathy in Saudi Arabian children: Demographic, clinical and biochemical features. Semin Arthritis Rheum 36:256, 2007 11. Shin TH, et al: Infantile systemic hyalinosis. J Am Acad Dermatol 50:61, 2004 12. Aghighi Y, Bahremand S, Nematollahi LR: Infantile systemic hyalinosis: Report of three Iranian children and review of the literature. Clin Rheumatol 26:128, 2007 13. Sinani S, Murshedy F, Abdwani R: Infantile systemic hyalinosis: A case report with a novel mutation. Oman Med J 28:53, 2013 14. Norman B, Soni N, Madden N: Anaesthesia and juvenile hyaline fibromatosis. Br J Anaesth 76:163, 1996 15. Qasem F, Abotaiban A, Ahmad H: Airway management in a patient with infantile systemic hyalinosis. J Anesth Clin Res 3:263, 2012 16. Pollard M, Ollite EM, Walker RW: The anesthesia management of a child with infantile systemic hyalinosis. Paediatr Anaesth 18: 1123, 2008
CRP 5.2.0 DTD YJOMS56903_proof 21 July 2015 5:42 am CE AH
Q5
469 470 471 472 473 474 475 476 477 478 479 480 481 482 483 484 485 486 487 488
CRANIOMAXILLOFACIAL DEFORMITIES/COSMETIC SURGERY
Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis—A Case Report Ewa Krasuska-Sławi nska, PhD, DDS,* Dariusz Polnik, PhD, MD,y Dariusz Rokicki, PhD, MD,z and Bogumiła Koeber, DDSx
Q7
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder caused by a mutation in the ANTXR2 gene encoding a transmembranous protein involved in endothelial development. The ANTXR2 (also known as CMG2) locus is on chromosome 4q21. ISH is a common disorder in children of consanguineous parents in Arab countries. Symptoms of ISH manifest within the first months of life as progressive painful joint contractures and edema, hyperpigmentation of the skin, cutaneous nodules, persistent diarrhea with protein-losing enteropathy, and recurrent infections. Children affected by ISH often die undiagnosed in infancy. Histopathologic examination shows hyaline deposits in the skin, skeletal muscles, cardiac muscle, lymph nodes, adrenal glands, gastrointestinal tract, thyroid, and spleen. Hyaline deposits are the result of leakage of plasma components to the perivascular space owing to defective endothelial morphogenesis. ISH manifests most often in the facial region. Patients develop hypertrophy of labial and buccal tissues and massive gingival overgrowths, which impair oral food intake and maintenance of satisfactory oral hygiene. The differential diagnosis of ISH should consider juvenile systemic hyalinosis (an allelic variant of ISH), Winchester syndrome, systemic fibromatosis, stiff skin syndrome, lipoid proteinosis, mucopolysaccharidosis, sphingolipidosis, and mucolipidosis. This report describes a case of massive labial and gingival hypertrophy in a 6-year-old boy with ISH. Ó 2015 American Association of Oral and Maxillofacial Surgeons J Oral Maxillofac Surg -:1.e1-1.e5, 2015 Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder.1-5 It manifests during the first months of life and includes joint contractures, hyperpigmentation, cutaneous nodules, persistent diarrhea with protein-losing enteropathy, and infections.2-4 Children with ISH often die in infancy. In the facial region, ISH manifests as massive overgrowths of soft tissues.1,5-7 ISH is allelic to juvenile hyaline fibromatosis, which develops in older patients with milder symptoms.2,8,9 It is a common disorder in children of consanguineous parents in Arabic countries.1,9-11 This report describes the case of one of the longest living patients with ISH. Owing to the patient’s lifespan, he developed massive hypertrophy of the gingiva
and labial and buccal tissues that seriously impaired food intake, hygiene, speech, and breathing. Because most patients with ISH die within the first years of life, there is not much data in the literature about treatment. Radiologic diagnosis of ISH is problematic because of joint contractures. Treatment under general anesthesia is impaired because of airway narrowing. The procedure of gingivectomy and reduction of overgrown labial tissues was performed, which resulted in a major improvement in the patient’s comfort.
Received
Memorial Health Institute, Al Dzieci Polskich 20, 04-730 Warsaw,
from
the
Children’s
Memorial
Health
Report of Case A 6-year-old boy was first referred to the department of oral pathology at 2 years of age because of gingival
Institute,
Warsaw, Poland.
Poland; e-mail: [email protected]
*Department Head, Dental Surgery Clinic. yAssistant, Department of Pediatric Surgery and Organ
Received December 11 2014 Accepted June 27 2015 Ó 2015 American Association of Oral and Maxillofacial Surgeons
Transplantation. zAssistant, Department of Metabolic Diseases.
0278-2391/15/00913-1
xResident, Dental Surgery Clinic.
http://dx.doi.org/10.1016/j.joms.2015.06.176
Address correspondence and reprint requests to Dr KrasuskaS1awi nska: Department of Dental Surgery Clinic, The Children’s
1.e1 CRP 5.2.0 DTD YJOMS56903_proof 21 July 2015 5:42 am CE AH
57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112
Q3
hypertrophy impairing proper nutrition. The child was diagnosed with ISH at 12 months old, when the presence of mutation 1601PinsC was detected on 2 alleles. Extraoral examination showed a mild eminence of the subnasal area and a firm and elastic overgrowth of the lower lip. Intraoral examination showed massive hypertrophy of the gingiva completely covering the dentition. After consultation with the physician, a gingivectomy was performed under general anesthesia. The extraction of gangrenous teeth (teeth 61, 71, and 81) also was performed during the procedure. The patient was monitored at the departments of metabolic diseases, endocrinology, and diabetes and oral pathology at the Children’s Memorial Health Institute (Warsaw, Poland). The patient attended his first follow-up appointment 3 months after the gingivectomy. Insufficient hygiene and caries were observed during the examination; however, no gingival overgrowth was detected. Six months after the gingivectomy, further enlargement of the subnasal area and lower lip and mild overgrowths of the upper and lower anterior gingivae were encountered at examination. Oral hygiene was insufficient. The next appointment took place when the patient was 5 years old, at admission to the department of metabolic diseases for recurrent fever of unknown origin. Extraoral examination showed considerable enlargement of the subnasal area and massive enlargement of the lower lip (Fig 1). Hard and elastic soft tissue overgrowths considerably impaired nutrition, oral hygiene, and speech. They also decreased the accuracy of the intraoral examination, impeding assessment of caries in teeth completely covered by gingiva (Fig 2). Radiologic examination also was impeded because joint contractures affected correct positioning during panoramic radiography. Radiographs depicted gangre-
FIGURE 1. Massive labial hypertrophy in a patient with infantile systemic hyalinosis. Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
Q1
web 4C=FPO
Q2
HYPERTROPHY IN INFANTILE SYSTEMIC HYALINOSIS
web 4C=FPO
113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168
1.e2
FIGURE 2. Gingival overgrowth in a patient with infantile systemic hyalinosis. Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
nous teeth that were the possible origin of the pyrexia (Fig 3). The patient also was referred to a laryngologist who could not perform a complete examination because of soft tissue overgrowths. Antibiotic therapy was administered and a gingivectomy under general anesthesia was scheduled. The procedure was meant to include a gingivectomy and the extraction of all gangrenous teeth. However, the patient’s mother did not consent to the extractions; therefore, the procedure was not performed. A month later, the patient was hospitalized because of recurrent fever; antibiotic therapy was implemented. After a comprehensive diagnostic procedure, the pyrexia appeared to have a dental etiology. The parents agreed to a gingivectomy and the extraction of teeth presenting a potential source of systemic infection. Attempts at intubation (direct visualization with laryngoscope) failed because of the bleeding soft tissue lesions within the oral cavity. The vocal cords were not visualized during an attempt at fiberoptic intubation. Because the procedure was not considered life-saving at that time, it was postponed. Antianaerobic chemotherapeutics were included in the antibiotic therapy. Computed tomography was performed to assess the airways in case a tracheotomy might be necessary. Scans showed overgrowths of mandibular and maxillary gingivae within the oral cavity. The hypertrophic tissues presented air bladders. The epiglottis was clearly visible; the trachea presented no obstruction. Two weeks later, another intubation was attempted because of the potential necessity of tracheotomy, to which the parents consented. Retrograde intubation was successfully performed. Polypoid nodosum gingival tissues were excised using bipolar diathermy. Gangrenous radices of all deciduous teeth were extracted. The alveoli were partially sutured. There were no postoperative complications. The episodes of fever resolved.
CRP 5.2.0 DTD YJOMS56903_proof 21 July 2015 5:42 am CE AH
169 170 171 172 173 174 175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224
KRASUSKA-SqAWINSKA ET AL
FIGURE 3. Orthopantomogram of patient showing many deciduous teeth with necrotic and gangrenous pulps.
Q6
Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
potassium infusions. Two days later, the patient was discharged from the intensive care unit and transferred to the clinic of pediatric surgery and transplantation. The sample taken from the lips showed hypertrophy of the sclerosing connective stroma, presenting sclerosing lesions within the neighboring blood vessels. The gingival sample presented nonspecific inflammatory granulations with fibrosis, sclerosis, and ulcerations. However, the inflammation was less severe than in previous biopsies. Eight days after the procedure, the patient reported a wound dehiscence of the lower lip. Examination disclosed a deep rupture with fibrin deposits and massive
web 4C=FPO
The excised tissues were examined histopathologically. Typical hyalinosis symptoms were observed, presenting intense nonspecific inflammation. Maintaining proper oral hygiene, speech, and nutrition remained problematic after care of the oral cavity. The patient presented a major facial proportion disorder. The excision of labial overgrowths under general anesthesia was planned with a plastic surgeon. The procedure was performed when the patient was 6 years old. The overgrowths of the upper and lower lip were excised and the mild gingival hypertrophy of the frontal lower gingiva was removed (Figs 4, 5). After the procedure, the patient presented with hypopotassemia, which was treated with intravenous
web 4C=FPO
225 226 227 228 229 230 231 232 233 234 235 236 237 238 239 240 241 242 243 244 245 246 247 248 249 250 251 252 253 254 255 256 257 258 259 260 261 262 263 264 265 266 267 268 269 270 271 272 273 274 275 276 277 278 279 280
1.e3
FIGURE 4. Labial overgrowth before surgical reduction.
FIGURE 5. Upper and lower lips after surgical reduction.
Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
CRP 5.2.0 DTD YJOMS56903_proof 21 July 2015 5:42 am CE AH
281 282 283 284 285 286 287 288 289 290 291 292 293 294 295 296 297 298 299 300 301 302 303 304 305 306 307 308 309 310 311 312 313 314 315 316 317 318 319 320 321 322 323 324 325 326 327 328 329 330 331 332 333 334 335 336
serosanguineous exudate along the suture on the lower lip. A swab was taken for bacteriologic examination. Antibiotic therapy and ozone therapy were administered, and the wound was cleaned daily until the swab results were announced. Five days later, the wound was cleaned and resutured under local anesthesia and thereafter resulted in proper healing. The patient was discharged. Sutures were removed from a completely healed wound 2 weeks later. The reduction of labial overgrowths considerably improved the patient’s appearance and oral hygiene and allowed intraoral examination. Twelve months after the reduction procedure, no labial overgrowths were observed (Fig 6). Slight gingival hypertrophy of the frontal mandibular section and caries in the first molars were reported at intraoral examination (Fig 7). The patient is being followed at the department of metabolic diseases and the dental surgery clinic.
Q4
Discussion ISH is a rare genetic disorder consisting of an accumulation of hyaline deposits in body tissues. It manifests with cutaneous nodules, joint contractures, gingival hypertrophy, diarrhea, and recurrent infections, with no mental impact. Most reports on ISH are featured in Arabic countries. This could be related to very frequent consanguineous marriages.4,10-12 Children of such parents have healthy siblings5 and siblings with characteristic ISH symptoms.1,13 In the present case, there was no consanguinity between the parents. Gingival and labial hypertrophy is a sign of ISH. It progresses with time. Other signs include joint contractures, skin hyperpigmentation, and nodules, which become more pronounced with time. Most patients with ISH die within the first 2 years of life as a
web 4C=FPO
HYPERTROPHY IN INFANTILE SYSTEMIC HYALINOSIS
web 4C=FPO
337 338 339 340 341 342 343 344 345 346 347 348 349 350 351 352 353 354 355 356 357 358 359 360 361 362 363 364 365 366 367 368 369 370 371 372 373 374 375 376 377 378 379 380 381 382 383 384 385 386 387 388 389 390 391 392
1.e4
FIGURE 7. Intraoral status 1 year after the procedure. Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
result of diarrhea with protein-losing enteropathy and infections.1,5,9,10 In patients who survive infancy and early childhood, the disease progresses. Massive overgrowths of the lips and gingiva are observed in the facial area.1,6 The present case report emphasizes the necessity of a gingivectomy to improve oral hygiene2,5; however, such procedures have not been frequently reported in the literature. Only cases of surgical treatment of labial and gingival hypertrophy in juvenile systemic hyalinosis have been reported.8,14 In the present patient, hypertrophy of the upper and lower lips seriously interfered with routine oral hygiene, food intake, speech, and physical aspect. Gingival overgrowths fully covered the tooth crowns, leading to deep caries and later to pulp necrosis. To eliminate the focus of recurrent fever and limit progress of the lesions, extractions of infectious teeth and reduction of hypertrophic tissues were performed. Procedures in patients with ISH should be performed under general anesthesia, because of their general condition, age, and lesion extent. Intubation, which is necessary for general anesthesia, can be difficult to perform owing to gingival hypertrophy, limited mouth opening, restricted neck movements, and prognathism.15,16 In the present case, elimination of oral infection led to the defervescence and improvement in the patient’s general condition. The reduction of overgrown gingival and labial tissues improved the patient’s visual aspect and quality of speech. The use of retrograde intubation and bipolar diathermia, minimizing blood loss, made the surgery possible. Acknowledgments
FIGURE 6. Upper and lower lips 1 year after the procedure. Krasuska-Sławi nska et al. Hypertrophy in Infantile Systemic Hyalinosis. J Oral Maxillofac Surg 2015.
The authors thank Przemys1aw qaniewski-Wo11k, MD, from the Department of Anesthesiology and Intensive Care, The Children’s Memorial Health Institute; Marek Szczyt, MD, private practice; and Wies1awa Grajkowska, MD, from Department of Pathology, The Children’s Memorial Health Institute for their contributions to this study.
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References 1. El-Kamah G, Mostafa M: Heterogeneity and typical presentation in ISH with severe labiogingival enlargement: First Egyptian report. Dermatol Online J 15:6, 2009 2. Dhingra M, Amladi S, Savant S, et al: Juvenile hyaline fibromatosis and infantile systemic hyalinosis: Divergent expression of the same genetic defect? Indian J Dermatol Venereol Leprol 74:371, 2008 3. Madke B, Kharkar V, Mahajan S, et al: Infantile systemic hyalinosis: A case report and review of literature. Indian Dermatol Online J 1:10, 2010 4. Lindvall LE, Kormeili T, Chen E, et al: Infantile systemic hyalinosis: Case report and review of the literature. J Am Acad Dermatol 58:303, 2008 5. Giri PP, Raushan R, Ghosh A, et al: Infantile systemic hyalinosis case report. Indian Pediatr 49:62, 2012 6. Spiliopoulos M, Jayakar P, Spiliopoulos D: Facial dysmorphism and skin manifestations in a patient with inherited systemic hyalinosis. J Pediatr 160:523, 2012 7. Al-Malik MA, Bahatheq MI, Rehbii ZA: Gingival hyperplasia in hyaline fibromatosis—A report of two cases. J Int Acad Periodontol 9:42, 2007
1.e5 8. Lim AA, Kozakewich HP, Feingold M, et al: Juvenile hyaline fibromatosis: Report of a case and comparison with infantile systemic hyalinosis. J Oral Maxillofac Surg 63:271, 2005 9. Nofal A, Sanad M, Assaf M, et al: Juvenile hyaline fibromatosis and infantile systemic hyalinosis: A unifying term and a proposed grading system. J Am Acad Dermatol 61:695, 2009 10. Al-Mayouf SM: Familial arthropathy in Saudi Arabian children: Demographic, clinical and biochemical features. Semin Arthritis Rheum 36:256, 2007 11. Shin TH, et al: Infantile systemic hyalinosis. J Am Acad Dermatol 50:61, 2004 12. Aghighi Y, Bahremand S, Nematollahi LR: Infantile systemic hyalinosis: Report of three Iranian children and review of the literature. Clin Rheumatol 26:128, 2007 13. Sinani S, Murshedy F, Abdwani R: Infantile systemic hyalinosis: A case report with a novel mutation. Oman Med J 28:53, 2013 14. Norman B, Soni N, Madden N: Anaesthesia and juvenile hyaline fibromatosis. Br J Anaesth 76:163, 1996 15. Qasem F, Abotaiban A, Ahmad H: Airway management in a patient with infantile systemic hyalinosis. J Anesth Clin Res 3:263, 2012 16. Pollard M, Ollite EM, Walker RW: The anesthesia management of a child with infantile systemic hyalinosis. Paediatr Anaesth 18: 1123, 2008
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