Síndrome lacrimo-auriculo-dento-digital (LADD): relato de caso e revisão da literatura

Abstract

Levy-Hollister or lacrimo-auriculo-dento-digital (LADD) syndrome is a rare entity with autossomic dominant inheritance occuring as an isolated form or affecting many family generations. Diagnosis is based on the identification of the lacrimal drainage system abnormalities with reduction or absence of tear production and bone, teeth, salivar glands and outer ear abnormalities. A 13 year-old male patient has been followed at the Hospital Servidor Público Estadual in São Paulo due to dry eye since his first year of life. Due to the occurrence of early ocular manifestations in patients with Levy-Hollister or lacrimo-auriculo-dento-digital syndrome, ophthalmologists must be aware to recognize and control this syndrome.

Lacrimo-auriculo-dento-digital syndrome: A case report and literature review

“…Auricular pavilion alterations are often accompanied by unilateral or bilateral hearing loss, which can occur in 59.1% of LADD carriers. [ 2 3 4 5 6 11 12 13 15 16 17 19 20 21 22 25 ] The changes can be in the inner ear (sensorineural deafness), in the middle ear (conductive hearing loss), or both (mixed hearing loss), and CT scan images can show abnormalities in the temporal ear ossicles, which was not found in our case.…”

“…Obstruction of the lacrimal ducts can occur in 71.4% of LADD carriers. [ 2 3 4 5 6 8 11 12 13 17 20 22 23 24 25 26 28 29 ] Even with nasolacrimal duct obstruction, acute dacryocystitis never occurred in the present case because the upper lacrimal system was absent and bacteria could not access the cyst. However, chronic dacryocystitis has been reported in LADD cases with patent upper lacrimal excretory system.…”

“…Other phenotypic characteristics of LADD were present in our patient including the low-set and cup-shaped auricles, which occur in 78.2% of LADD patients. [ 1 2 3 4 6 7 8 9 10 11 12 13 14 15 16 19 20 21 25 27 29 ] The malformations of the auricular pavilion can be quite variable, ranging from slight changes to the nonformation of the ear.…”

“…Dental anomalies are very common characteristic in LADD disease, present in 91.1% of the cases. [ 1 2 3 4 5 7 8 9 10 11 12 13 14 15 17 18 19 20 21 22 24 25 26 27 28 29 ] Hypoplasia or aplasia of salivary glands detected in the clinical or in the imaging examinations impairs saliva production, which occur in 65.7% of LADD cases. A decrease in saliva leads to xerostomia and persistent dry mouth with swallowing problems and a greater susceptibility to serious dental erosion, periodontal disease, increasing risk of dental caries, and precocious loss of teeth.…”

“…There are around 62 cases already reported in the literature [ Table 1 ],[ 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 ] with variable phenotypic expression, characterized by bilateral or unilateral lacrimal abnormalities (hypoplasia, agenesis or atresia of lacrimal puncta and canaliculi, dacryocystocele, and nasolacrimal duct obstruction) isolated or combined with lacrimal gland agenesis or hypoplasia (resulting in dry eyes), dental deformities (peg-shaped teeth, microdontia, hypodontia, and enamel dysplasia), major salivary parotid and/or submandibular glands aplasia or hypoplasia (resulting in dry mouth), external ear malformations (low-set and cup-shaped auricles) with or without hearing deficits, skeletal anomalies, especially in the hands, arms, and feet, with preaxial digital abnormalities (hypoplastic thumbs and radii, clinodactyly, and syndactyly). [ 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 ]…”