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Short Reports J Med Genet: First Published As 10.1136/Jmg.35.5.417 on 1 May 1998 JMed Genet 1998;35:417-419 417 Short reports J Med Genet: first published as 10.1136/jmg.35.5.417 on 1 May 1998. Downloaded from Autosomal dominant juvenile recurrent parotitis Evan Reid, Fiona Douglas, Yanick Crow, Anne Hollman, John Gibson Abstract panied by xerostomia. During acute attacks, Juvenile recurrent parotitis is a common there was swelling and mild erythema of the cause of inflammatory salivary gland right side of the face over the region of the swelling in children. A variety ofaetiologi- parotid gland. As commonly occurs in JRP, the cal factors has been proposed for the con- number of episodes of gland swelling started to dition. Here we present a family where lessen with the onset of puberty. Each acute four members had juvenile recurrent episode was managed with bed rest, adequate parotitis and where two other family hydration, and drug therapy (potent oral anal- members may have had an atypical form gesics and antibiotics). Her general health was of the condition. The segregation pattern otherwise good, she was taking no medications, in the family is consistent with autosomal and had no known allergies. dominant inheritance with incomplete On examination between attacks, there was penetrance and this suggests that, at least no residual salivary gland swelling and there in some cases, genetic factors may be was no tenderness around the head or implicated in juvenile recurrent parotitis. neck. A (J7Med Genet 1998;35:417-419) painless temperomandibular joint click was present on wide mouth opening. There was no Keywords: juvenile recurrent parotitis; autosomal domi- trismus and the teeth were not tender to nant percussion. The oral mucosa had a normal appearance. Minimal saliva could be expressed Department of from the right parotid duct orifice, but clear Medical Genetics, Juvenile recurrent parotitis (JRP) is a common saliva could easily be expressed from the other University of cause of inflammatory salivary gland swelling three major salivary gland ducts. A clinical http://jmg.bmj.com/ Cambridge, Box 134, in children. 1-3 The condition is characterised by diagnosis ofJRP was made. This diagnosis was Addenbrooke's NHS episodes of usually unilateral, painful parotid strengthened by parotid gland ultrasonogra- Trust, Cambridge CB2 swelling, which typically last for several 2QQ,UK days phy, which showed the right parotid gland to be E Reid and which may occur more than 10 times per enlarged, with areas of altered texture and year. Age of onset is most commonly between 3 flecks of calcification. A technetium scan Department ofHuman and 6 years, while remission is usual at the time showed normal tracer activity in both parotid Genetics, of puberty. 1-3 Royal on September 27, 2021 by guest. Protected copyright. Victoria Infirmary, glands, but discharge of tracer activity follow- A variety of aetiological factors have been ing lemon juice was poor, strongly Newcastle upon Tyne, proposed for JRP, including allergy,3 viral suggesting UK infection,4 chronic parotid disease. A panoral radiograph F Douglas autoimmunity,5 and congenital was normal and a sialogram was unhelpful, structural defects.6 Here, we describe clinical owing to artefact resulting from high pressure and radiological findings in a family where four Department of filling. MRI scanning of salivary glands was Medical Genetics, members in two generations were affected by Royal Hospital for Sick JRP and where two further family members normal, as is occasionally found in JRP. Tests for anti-Ro, -La, -nuclear Children, Glasgow, UK were affected by what may have been an factor and rheuma- T Crow atypi- cal form of the condition. The pattern of toid factor autoantibodies were negative, as was disease segregation in the family is consistent radioimmunosorbant testing for IgE against Department of numerous Radiology, Royal with autosomal dominant inheritance and sug- antigens. Hospital for Sick gests that genetic factors are important in at The proband's mother denied ever having Children, Glasgow, UK least some cases ofJRP. experienced attacks of facial pain or salivary A Hollman gland swelling. Department of Oral Case reports Medicine, Glasgow The family pedigree is illustrated in fig 1. CASE 2 (IV.3) Dental Hospital and Case 2 experienced two to three attacks of School NHS Trust, CASE 1: PROBAND painful parotid gland swelling per year, Glasgow, UK (IV.1) begin- J Gibson The proband presented at the age of 12 years ning at the age of 3 years. Attacks were very with a five year history of recurrent right sided, similar in character to those of the proband, Correspondence to: painful facial swelling. Attacks occurred ap- although facial swelling was more prominent Dr Reid. proximately three to four times per year, came and attacks could occur on either side. Parotid on over a few and Received 23 September 1997 hours, typically lasted for 24 ultrasonography showed bilateral punctate cal- Accepted for publication to 48 hours. They were associated with a cification. A panoral radiograph showed multi- 12 November 1997 sensation of unpleasant taste and were accom- ple small calculi within the left parotid gland. 418 Reid, Douglas, Crow, et al CASE 3 (IV.4) stone. The duct was explored operatively but Case 3 had two to three attacks of painful the stone could not be removed for technical parotid gland swelling per year, involving both reasons. However, his symptoms settled after sides, from the age of 3 years. Again, the attacks this. He was reinvestigated shortly after the J Med Genet: first published as 10.1136/jmg.35.5.417 on 1 May 1998. Downloaded from were very similar in character to those proband's presentation and a panoral radio- described by the proband. Parotid gland ultra- graph showed a single left submandibular sonography showed areas of abnormal texture calculus. Ultrasonography showed both pa- with punctate calcification in both glands, rotid glands to be atrophic and abnormal, con- more prominent on the right, suggestive of taining areas of calcification. chronic inflammatory change. A panoral radio- graph was normal. CASE 6 (I.2) Only historical data were available for this case, CASE 4 (III.4) who died several years before the proband's The mother of cases 2 and 3 was affected by presentation. Family members recalled her recurrent, painful parotid gland swelling which suffering throughout her life from recurrent was usually unilateral, though occasionally episodes of unilateral facial pain and swelling. bilateral. Attacks occurred between the ages of 8 and 14 years, after which they spontaneously Discussion disappeared. However, the attacks recurred Juvenile recurrent parotitis is the second most during each of two pregnancies, remitting common cause of inflammatory salivary gland shortly after delivery. Parotid gland ultrasonog- swelling in children after mumps. Acute raphy showed areas of abnormal texture with episodes are characterised by painful, tender, punctate calcification on both sides, with the unilateral or bilateral parotid gland swelling left side more severly affected. A panoral radio- which may last from one to two days to over graph was normal. two weeks. The swelling typically appears sud- denly over a period of a few hours and may be CASE 5 (II.1) accompanied by systemic symptoms, including Case 5 had experienced recurrent attacks of fever and general malaise. Xerostomia is well right submandibular salivary gland swelling 30 recognised during acute episodes and a mu- years before. Radiographs carried out at the copurulent discharge can often be milked from time identified a right submandibular duct the parotid duct. The frequency of these acute events may range from one to more than 10 per year. The age of onset is generally between 3 and 6 years, although earlier and later ages of onset have been recorded. In general, the con- dition tends to become quiescent around puberty, although attacks may persist into adult life.' http://jmg.bmj.com/ In our family, the clinical picture was typical of JRP in cases 1-3. Case 4 had a typical clini- I1 cal picture of JRP during childhood, but also suffered from the condition in adult life, inter- estingly during each oftwo pregnancies. Case 5 111 was not typical of JRP. He had never experi- enced acute parotitis, but during adult life did on September 27, 2021 by guest. Protected copyright. have several episodes of right submandibular gland swelling, thought to be caused by ductal obstruction. On reassessment 30 years later, he had a left submandibular gland stone and bilaterally abnormal and atrophic parotid glands, suggesting the presence of previous subclinical parotid disease. No firm diagnosis was possible in case 6, although the historical IV description of recurrent facial pain and swell- ing is consistent with recurrent parotitis. /11 2 3 4 In our patients, ultrasonography was useful (12) (12) (9) for confirming parotid gland pathology and showed gland atrophy, variations in parenchy- mal texture, and multiple areas of calcification. The majority of cases of JRP show ultrasono- LI 0 Asymptomatic graphic abnormalities, in particular multiple small hypoechoic areas, although the areas of 0 * Juvenile recurrent parotitis punctate calcification reported here are highly suggestive of previous inflammatory change J within the salivary gland parenchyma.7 The [L Asymptomatic parotid pathology radiological investigation of choice for confir- mation of a diagnosis ofJRP is sialography, and EI ) Recurrent unilateral facial pain it is unfortunate that the sialogram carried out in case 1 was unhelpful. She has declined Figure 1 Family pedigree. Age at examination is shown in brackets. repeat sialographic examination. Autosomal dominantjuvenile recurrent parotitis 419 A variety of aetiological factors have been attacks may be hastened by the use of proposed for JRP, including viral infection, sialogogues, gland massage, encouragement of autoimmunity, allergy, and ascending infection fluid intake, and oral antibiotics.3 More radical caused by congenital structural defects.3-6 treatment is seldom required and is restricted J Med Genet: first published as 10.1136/jmg.35.5.417 on 1 May 1998.
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