Ectodermal dysplasia; oligodontia and peg-shaped incisors. 

Context in source publication

Context 1

... usually occurs before 3 months, but may be seen up to 2 years, and late- stage disease that occurs after 2 years. Early clinical manifestations are often absent at birth and appear around 2 to 6 weeks. Cutaneous findings are seen in 38% of infants and present with a red macules and papules, papulosquamous eruption, or a desqua- mating dermatitis. A diagnostic sign in early syphilis is hemorrhagic bullae on the palms and soles. Rhagades occurs early but persists into late childhood and adult life. It consists of fine linear lines seen periorificially. Mucocutaneous lesions; snuffles (rhi- nitis); mucous patches that are present on the lips, mouth, tongue, and palate; and condylomata lata mainly in the anogenital area and at the angles of the mouth are characteristic. Prematurity, growth failure, bony involvement, hepatosplenomegaly, and jaun- dice are often seen as part of the multisystem disease. Pneumonia, enteritis, pancreatitis, nephritis, edema, ascites, uveitis, chorioretinitis, glaucoma, aseptic meningitis, and hematologic abnormalities may all be present in severely ill infants. 5 The signs of late congenital syphilis affect every organ system including the eyes; interstitial keratitis and optic atrophy; the bones - frontal bossing, short maxilla, high palatal arch, saddle nose, saber tibias, scaphoid scapula, palatal perforation, and Clutton joints; the ears - eighth cranial nerve deafness; and the central nervous system - mental delay, convulsive disorders, paresis, and paralysis. Gummas may be seen in the later stages. Notwithstanding the many manifestations of late congenital syphilis, the dental signs are easily iden- tified and may help to expedite the diagnosis. 6 Late congenital syphilis affects the amelogenesis of the molars and incisors. Both Hutchinson teeth and mulberry molars are seen in about 65% of patients. Hutchinson incisors are named after Sir Jonathan Hutchinson who first associated the defect with congenital syphilis in 1858. 7 These characteristic teeth present at around 6 years; they are centrally notched, widely spaced, peg-shaped upper permanent central incisors (Fig 2). The triad of Hutchinson teeth, interstitial keratitis, and sensorineural hearing loss is pathognomonic of congenital syphilis. Patients with congenital syphilis may also have mulberry molars, which are first molars dwarfed by a small occlusal surface, and are characterized by roughened lobulated hypoplastic enamel leading to caries. 8 The surface has numerous poorly formed cusps sur- mounting a dome-shaped tooth, which is considerably narrower at the grinding surface than at its base (Fig 3). Management of the dental abnormalities can hide the obvious notched teeth. EDs represent a large group of hereditary conditions characterized by congenital defects of one or more ectodermal structures including skin append- ages. The original constructional theme encoded in ectoderm diverges into epidermis, hair, sweat and milk glands, and the mineralized crystalline anvils of teeth, under the direction of local signals emanating from the underlying mesoderm. The intimate origins of these diverse ectodermal structures account for the wide spectrum of dysplasias. Clinically the hair (hypotrichosis, partial or total alopecia), nails (dystrophic, hypertrophic, or abnormally keratinized), teeth (enamel defects or absence), and sweat glands (hypoplastic or aplastic) are usually affected. 9 An estimated incidence of ED is about 7 in 10,000 births and all mendelian modes of inheritance have been reported. 10 Of more than 190 EDs described, the molecular basis has been elucidated for more than 30 of them. 11 Dental defects represent a core clinical feature of many EDs: anodontia, polydontia, dysplastic teeth, retained primary teeth, deficient enamel development (amelogenesis imperfecta), dentine deficiency (dentinogenesis imperfecta), and underdevelop- ment of the alveolar ridge. 12 In some EDs, the number of erupted teeth is reduced, the spacing of the teeth disrupted, and the peridontium affected. In one case-controlled study of 68 persons with oligodontia, 57% had disturbances in hair, nails, and/or sweat production in addition to defective teeth, and were classified as having ED. 13 Disturbance of the enamel matrix may occur, making the teeth more susceptible to caries, and altering the shape of the teeth, leading to a pegged appearance and additional accessory cusps. X-linked hypohidrotic ED (Christ-Siemens- Touraine syndrome) is the most frequent form; the diagnosis is usually made with the identification of hypotrichosis, characteristic facial features, hypohidrosis (and more rarely anhidrosis), and teeth abnormalities. The nails are usually normal. Abnormalities in the development of tooth buds result in hypodontia and peg-shaped or pointed teeth. 14 The hypodontia varies in each case, but usually only 5 to 7 permanent teeth are present, the teeth are smaller than average, and the eruption of teeth is often delayed 15 (Fig 4). The extent of hypodontia may be useful in assessing the severity of the disease, and is best done with dental radiographs. 16 It is extremely important for children with ED to be seen by a dentist early. Radiographs after 2 years reveal the state of the permanent teeth and allow children to be fitted with a plate early; this is helpful for both aesthetic reasons, and to maintain the alveolar ridge, allowing for later tooth implantation. Tooth and nail syndrome (Witkop syndrome) is another type of autosomal-dominant ED associated with specific dental findings. The primary dentition is usually unaffected, although the teeth may be small or peg-shaped, whereas the secondary dentition is often partially or completely absent. 17 Oculodentodigital dysplasia is a rare autosomal- dominant subtype of ED, characterized by bilateral microphthalmos, nose malformations, hypotrichosis, syndactyly, and dental abnormalities particularly enamel hypoplasia. 18 Dental treatment is often necessary in patients with some forms of ED and some children may need dentures as early as 2 years of age. 19 It is important to seek dental advice early as maintenance of the alveolar ridge is important for later dental interven- tion. Prosthetic teeth are implanted in adults for mastication and speech. Importantly, aesthetic dental interventions in patients with ED and malformed teeth and malocclusion helps with the development of a positive self-image and overall oral health. 20 A treatment protocol for meeting patients’ functional and aesthetic needs as they grow into adulthood has been described by Hickey and Vergo. 12 Hereditary EB includes a heterogeneous group of genetic bullous disorders characterized by blister formation in response to mechanical trauma. There are 3 main types of EB: simplex, junctional, and dystrophic, and numerous subgroups of these main types. The latter two cause skin breakdown and scarring and have associated organ dysfunction. Severe oral involvement often occurs in EB, leading to alterations in the soft and hard tissues. There is a risk of oral and esophageal carcinoma development in the chronically scarring disease of dystrophic EB of Hallopeau. Oral and dental manifestations and treatment of patients with EB have been compre- hensively reviewed by Wright et al. 21 Enamel hypoplasia is present in all forms of junctional EB causing pitting of the surfaces of all primary and permanent teeth. If untreated, teeth are lost during childhood as a result of caries. 22 Generalized enamel hypoplasia is limited to junctional EB, 21 whereas the prevalence of dental caries is significant in both junctional and recessive dystrophic EB. 22 The latter is also typically associated with significant mucosal blistering and soft tissue scarring. Appropriate interventions and early dental therapy may help prevent destruction and loss of the dentition. Early referral of patients with EB for dental evaluation is important. Aggressive preventive measures and management of developing malocclusions using serial extractions can reduce the likelihood of rampant caries and achieve an acceptable occlusion, allowing patients to maintain a healthier dentition. 21 Of note, prophylactic dental care is difficult in patients with dystrophic forms of EB. Ankyloglossia and microstomia seen in these patients makes it challenging for dentists to work in their mouths, which frequently requires general anesthesia. Gardner syndrome, a subtype of familial adenom- atous polyposis, is an autosomal dominant condition characterized by gastrointestinal polyps, multiple osteomas, skin epidermal cysts, mixed muscle and fibrous desmoid tumors, and soft tissue fibromas. Dermatologic manifestations include epidermoid cysts and other benign tumors. Dental anomalies are seen in approximately 20% of patients and include multiple nonerupted teeth, polydontia (Fig 5), follic- ular odontomas, dentigerous cysts, and caries. 23,24 First described in 1951, HI is a neurocutaneous disorder characterized by linear, patchy, or swirling areas of hypopigmentation on the skin. These patches are often not present at birth but develop in the first few years. ‘‘Pigmentary disorder following Blaschko lines’’ is a term sometimes used to describe this condition. Ophthalmologic, musculoskeletal, neurologic, and dental anomalies may be associated with the syndrome. The dental abnormalities found in HI include talon cusps, 26 a single maxillary central incisor, 27 enamel defects, hypodontia, and irregu- larly spaced teeth. 28 The talon cusps (Fig 6) have been described as protuberances appearing on the palatal surface of the incisor crowns, and have been suggested as specific markers for HI by Happle and Vakilzadeh. 26 IP is a rare X-linked dominant genodermatosis that affects mostly female patients and is usually lethal in male fetuses in utero. 29 IP is characterized by abnormalities of the tissues and organs derived from the ectoderm and neuroectoderm. Clinical ...