Clinical diagnosis and management strategies of amelogenesis imperfecta variants

Resident: Adam J. Bottrill
Date: 05FEB10
Region: Providence
Article title: Clinical diagnosis and management strategies of amelogenesis imperfecta variants
Author(s): Seow, W. Kim
Journal: Pediatric Dentistry
Page #s: pp. 384-393
Year: 1993
Major topic: Amelogenesis Imperfecta
Minor topic(s): None
Type of Article: Topic Summary

Main Purpose: The aim of this study was to analyze the clinical presentations, diagnostic factors and clinical complications of different variants of AI.

Overview of method of research: Patient study and comparison. 32 patients from 17 families.

Key points in the article discussion:

I. AI is a group of inherited disorders primarily affecting dental enamel.
A. Prevalence: from 1:718 to 1:14000 depending on population.
B. Etiology: Alteration of the genes involved in the complex process of enamel formation and maturation.
C. Dx: 1-generalized enamel hypoplasia in primary and permanent teeth. 2-FHx or new mutation 3-absence of systemic factors.

II. Hypoplastic: characterized by deficiency in quantity of enamel (thin enamel or pits and grooves)
A. Pitted (autosomal dominant): small, pinpoint size pits in rows, localized enamel loss, normal radiographs
1. Clinical Problems: Mostly esthetic, mild gingivitis
B. Local (autosomal recesive): horzontal bands of pitting or missing enamel, opaque enamel, normal radiographs.
1. Clinical Problems: Esthetic and sensitivity.
C. Smooth, thin (autosomal dominant): thin, hard, smooth, glossy enamel, colored from white to brown, narrow teeth, no contacts, thin enamel on radiograph.
1. Clinical Problems: Esthetics, sensitivity, loss of VDO, better gingival health than other types.
D. Smooth (X-linked): lyonization, vertical ridges and grooves, thin enamel on radiograph. Father can’t trasmit.
1. Clinical Problems: Esthetics, loss of VDO, gingivitis.
E. Rough (autosomal dominant): thin, hard, rough enamel, minimal contacts, thin enamel on radiograph
1. Clinical Problems: Esthetics, sensitivity, loss of VDO, gingivitis.

III. Hypocalcified: characterized by enamel that is insufficiently mineralized (soft, discolored enamel)
A. (autosomal recessive/dominant): soft, opaque, yellow enamel, chips away easily, adequate contacts, MINIMAL contrast between dentin and enamel on radiograph.

IV. Hypomaturation: characterized by abnormalities in the maturation stages of dev (opaque, chalky enamel)
A. (autosomal recessive/x-linked recessive): opaque enamel, normal contacts, mild open bite, lack of contrast between enamel and dentin on radiograph, similar appearance to fluorosis,

Assessment of article: Basic and informative. Shenanigans were not found here.

Amelogenesis Imperfecta (AI), dentinogenesis inperfecta (DI), and dentin dysplasia (DD) revisited: problems in classification

Resident: J. Hencler
Date: 02/05/2010

Article title: Amelogenesis Imperfecta (AI), dentinogenesis inperfecta (DI), and dentin dysplasia (DD) revisited: problems in classification
Author: C. J. Witkop Jr.
Journal: J Oral Pathol 1989: 17: 547-553

Major topic: AI, DI, DD

Type of Article: Review

Main Purpose:
Update classification and prevalence of AI and discuss problems with the classification of inherited dentin defects.

Discussion:

AI should is limited to those inherited, congenital defects that only affect enamel formation and not accompanied by morphogenic or metabolic defects in other body systems other than tooth form or eruption. AI classification based on clinical exam is problematic b/c the same clinical features may have several modes of inheritance. The expression of AI can vary greatly from very mild forms to severe. AI prevalence differed in many studies at the time of this publication so was still debated. Now the estimated incidence of AI includes 1 in 14000, 1 in 8000, and 1 in 4000. 14 subgrps of AI with multiple inheritance patterns are known which complicates diagnosis. The 4 categories of AI are described according to the stage of tooth development in which each is thought to occur.

DI is an inheritable dental defect of pre-dentin matrix that results in amorphic, disorganized, and atubular circumpulpal dentin. DI is classified into 3 types. Type 1 occurs with osteogenesis imperfect (OI), Type 2 is also known as hereditary opalescent dentin. Type 3 is a rare type found only in a tri-racial isolated grp in Maryland called the Brandywine population and is proposed to be a different expression of the same type 2 gene.

DD represents a grp of inherited dentin disorders resulting in defects involving circumpulal dentin and root morphology. 2 Types are described. Type 1 has normal primary and perm crown morph but with amber translucency. Roots are short and sharply constricted. Primary teeth have obliterated pulps and both dentitions exhibit multiple radiolucencies and absent pulp chambers. Type 2 involves amber colored primary teeth closely resembling DI types 1 and 2. Perm teeth appear normal, but radiographically show thistle tube shaped pulp chambers with pulp stones. DD type 2 has been argued to be a type of DI on the basis of clinical, radiographic, histologic, and alterated structural protein similarities.

Assessment of article:
Awful, it was hard to understand and written in way too much genetic detail. Unless you enjoy an article that debates numerous intricate genetic differences that determine a complicated classification system, this article may not be for you. The article did do a good job going into each subtype of AI but lacked info on DI and DD.

Hereditary Defects of Enamel

Department of Pediatric Dentistry

Lutheran Medical Center

Date: 02/05/2010

Article title: Hereditary Defects of Enamel

Author(s): J Tim Wright

Journal: Text: Dentin Enamel: Formation to Destruction

Volume (number):

Month, Year: 1995

Major topic: Enamel defects

Minor topics: Syndromes associated with enamel defects

Type of Article: Text, educational

Main Purpose: To Present the current knowledge of hereditary enamel disorders

Overview of method of research: Text based on a review of the literature

Findings:

This text has a ton of information. It is an important read, but not important for me to copy again. After board review, my feeling is that by knowing the information in Table 1, you’ll be well prepared for the exam.

I reproduced it here and added some pertinent information. I did not add any histology as it is probably not relevant to what we need for the boards.

Key points/Summary :

• Syndromic conditions
• Metabolic disorders
• Mucopolysaccharidosis type IV (mucopolysaccharides accumulate around developing teeth)
• Hypophosphatasia (abnormal cementum, early primary tooth exfoliation, pitting)
• Vitamin D-dependent rickets
• Vitamin D-resistant rickets
• Pseudohypoparathyroidism
• 
  
• Ectodermal/mesenchymal disorders
• Ectodermal dysplasias
• Epidermolysis bullosa, junctional type (skin fragility, blistering, dysplastic enamel)
• Tricho-dento-osseous syndrome
• Icontinentia pigmenti
• Tuberous sclerosis
• Oculo-dento-osseous syndrome
• 
  
• Nonsyndromic Conditions
• Amelogenesis imperfecta (usually only for defects exclusively in enamel, the 3 major groups are listed)
• Hypoplastic type
• Hypocalcified type
• Hypomaturation type

Assessment of article: This was a good read. I think that everyone should be sure to read this over as it helps us better understand teeth generally.