|Year : 2011 | Volume
| Issue : 2 | Page : 168-170
Namrata R Mathrawala, Rahul J Hegde
Department of Pedodontics and Preventive Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi Mumbai, India
|Date of Web Publication||9-Sep-2011|
Rahul J Hegde
Department of Pedodontic and Preventive Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi Mumbai
Source of Support: None, Conflict of Interest: None
| Abstract|| |
The Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant inheritance pattern with marked variability of inheritance. It is characterized by abnormalities of lacrimal and/or salivary system, anomalies of ears, teeth and limbs. Persistent dry mouth and enamel hypoplasia cause serious dental effects. Here, a case of LADD syndrome, its clinical spectrum and accompanying therapeutic challenges is discussed.
Keywords: Lacrimo-auriculo-dento-digital syndrome, salivary gland aplasia, xerostomia
|How to cite this article:|
Mathrawala NR, Hegde RJ. Lacrimo-auriculo-dento-digital syndrome. J Indian Soc Pedod Prev Dent 2011;29:168-70
| Introduction|| |
Lacrimo-auriculo-dento-digital (LADD) syndrome or Levy Hollister syndrome (OMIM 149730) is a rare autosomal dominant syndrome. A report on a family of father and his eight children was accounted by Hollister et al in 1973.  They showed aplasia or hypoplasia of lacrimal puncta, recurrent eye infections, cup-shaped ears with mixed hearing loss, various dental and preaxial digital anomalies. Another report of a mother and son with the same constellation of findings with additional absence of some major salivary glands in the son was reported by Shiang and Holmes in 1977.  Diminished salivary flow and dysphagia are the presenting dental features. The following case report illustrates the clinical spectrum and accompanying therapeutic challenges of LADD syndrome.
| Case Report|| |
A 7-year-old boy, reported to the department of Pedodontics and Preventive Dentistry with the chief complaint of persistent dryness of the mouth and eating difficulties. He complained of having dry mouth since infancy and never appeared to have salivated. Switching to solid foods was difficult for him. All solid foods including biscuits were dipped in water to enable him for swallowing. The child took long time to eat and food always remained in his mouth. In addition, he complained of dryness and irritability of eyes with purulent discharge from both eyes and ears since two and a half years. He also complained of palpitations. No other member of the family reported similar complaints.
On physical examination, the child's general health was good and intellectual development was considered normal. On examination the hands showed mild clinodactyly of the middle finger. The hand wrist radiograph confirmed the same. [Figure 1]a, b. Hydrocele on right side was also noted.
|Figure 1: (a) Mild clinodactyly of the middle finger (b) Mild clinodactyly of the middle finger as seen on hand-wrist radiograph (c) Bilateral dacrocystitis of eyes (d) Low-set ears|
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Examination of the head and neck showed a prominent forehead, antimongoloid slant of eyes and malformed ears which were low set [Figure 1]c, d. Hair and skin appeared normal. He also manifested sweating. Eyes were dry and bilateral nasolacrimal duct obstruction with chronic dacrocystitis was noted [Figure 1]c. On palpation soft tissues in the parotid and submandibular areas appeared normal, but no parotid gland bulk or submandibular gland outline was seen.
On intraoral examination, the orifice of Stensen's duct was not visible. After intentional stimulation of salivary glands (vigorous massaging of glands and chewing of paraffin wax), secretions in the form of droplets on the palate confirmed presence of palatal minor salivary glands. However, no secretions were produced by the major salivary glands and hence no saliva was collected. Tongue tie and bald tongue were noted. [Figure 2]a, b Extensive destruction of primary teeth was seen. [Figure 3]a, b
|Figure 3: (a) Intraoral view of maxillary arch. (b) Intraoral view of mandibular arch. (c) Orthopantomograph showing missing mandibular central incisors|
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The panoramic radiograph showed presence of all permanent teeth except two mandibular central incisors [Figure 3]c. Audiometric test revealed bilateral mild conductive hearing loss. The ultrasound of the head and neck region confirmed the absence of both submandibular and parotid glands; however, the sublingual glands could not be visualized clearly and hence its presence was questionable. The space was occupied by adipose tissue and lymph nodes. Hypoplastic lacrimal glands were seen.
2D echocardiography and Color Doppler findings were normal. Complete blood count revealed mild eosinophilia. Ultrasound of abdomen showed no abnormalities. Chest X-ray revealed the first ribs to be small in size and suggestive of hypoplastic first rib or presence of cervical rib bilaterally. Based on above clinical and radiographic findings a diagnosis of LADD syndrome was made.
Dental treatment consisted of oral prophylaxis, restorative treatment, and extraction of root stumps. Preventive regimen included dietary counseling, topical fluoride varnish application, sealants, and daily fluoride mouth rinses. A commercially available solution of artificial carboxymethyl cellulose-based salivary substitute was prescribed. On the follow-up visit the child was not satisfied with the viscosity and had reverted back to the use of water. A different more viscous product in the form of aerosol spray was prescribed. Although the child found its use acceptable it did not prove economical for lifelong use. Parent's knowledge of child's congenital absence of major salivary glands and lack of permanent remedial treatment led to disinterest for further investigations and treatment.
| Discussion|| |
LADD, or Levy-Hollister syndrome, is a true multiple congenital anomalies syndrome comprising hypoplasia, aplasia or atresias of the lacrimal system, anomalies of the ears and hearing loss, hypoplasias, apalsias or atresias of the salivary system, dental anomalies and digital malformations including absent, hypoplastic or triphalangeal thumbs, anomalies of 2 nd , 3 rd or 4 th digits or of 5 th digits and hypothenar areas.  Absent or small, peg-shaped lateral maxillary incisors and mild enamel dysplasia and possible renal anomalies have also been reported. An extensive review of this syndrome has been published by Wiedemann and Drescher. 
A diagnosis of LADD syndrome on the basis of agenesis of bilateral parotid, submandibular and sublingual salivary glands, hypoplasia of bilateral lacrimal glands, mild hearing loss, hypodontia and digital anomalies was made. These clinical characteristics were typically found in most of the reported LADD syndromes.
Majority of LADD cases have autosomal dominant inheritance.  No family history of salivary agenesis was found in our case.
LADD syndrome is mainly associated with aplasia of salivary glands. Bilateral absence of both parotid and submandibular salivary glands is rare. In a literature review of 44 cases only 13 had aplasia of all four major salivary glands. 
Patients with salivary gland aplasia experience increased dental caries due to loss of saliva's buffering, cleansing and antibacterial capacities.  Importantly, rampant dental caries in children who have no other symptoms has led to the diagnosis of congenitally missing salivary glands. In our patient extensive destruction of primary dentition was seen. The child being at high caries risk, space management was not planned.
The management of patients with salivary gland dysfunction requires enough stimulation of the residual gland function with sialogouges or, in severe cases the use of artificial saliva is recommended. , Water can be used as a saliva replacement, but it does not moisten and lubricate the oral mucosa and teeth adequately. Hence saliva substitutes containing thickening agents have been developed. An in vitro comparative study of wettability of four commercially available saliva substitutes and distilled water found Aqwet better than other substitutes.  Further consideration must be given to develop saliva substitutes suitable for patients with complete agenesis of salivary glands.
Lifelong treatment utilizing salivary substitutes, topical fluoride, strict adherence to diet and regular dental checkups are essential to prevent early loss of teeth.
| References|| |
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|4.||Wiedemann HR, Drescher J. LADD syndrome: A report of two new cases and review of clinical spectrum. Eur J Pediatr 1986;144:579-82. |
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[Figure 1], [Figure 2], [Figure 3]
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|[Pubmed] | [DOI]|