CLINICAL CASES
Rakhi Manoj Chandak
1, A–D, Manoj G. Chandak
2, B–C, Shivlal M. Rawlani
3, CChrist-Siemens-Touraine Syndrome
Zespół Christ-Siemens-Touraine’a
1 Oral Medicine and Radiology, SDKS Dental College and Hospital, Nagpur, India 2 Conservative Dentistry, SPDC Sawangi Wardha, India
3 Oral Medicine and Radiology, Mahatma Gandhi Institute Sevagram, Wardha, India
A – research concept and design; B – collection and/or assembly of data; C – data analysis and interpretation; D – writing the article; E – critical revision of the article; F – final approval of article
Abstract
Christ-Siemens-Touraine syndrome is characterized by a defective formation of one or more structures derived from the ectoderm. It was first described by Thurnam in 1848 and was coined by Weech in 1929. Thus, it affects the development of keratinocytes and causes aberrations in the hair, sebaceous glands, ecrine and apocrine glands, nails, teeth, lenses and conjunctiva of the eyes, anterior pituitary gland, nipples and the ears. Here we present a case of a ten year-old boy with atypical features which included fine, sparse blond scalp hair the absence of eyebrow and eye lashes, mild frontal prominence, depressed nasal bridge, dry and wrinkled skin, the presence of only 4 decidu-ous teeth. Roentgenographic examination showed 2 cone-shaped and two malformed crowns with complete roots in bony crypts consistent with deciduous canines and molars respectively. The child was the only member of his family who suffered from Christ-Siemens-Touraine syndrome (Dent. Med. Probl. 2014, 51, 2, 275–280). Key words: teeth, anodontia, keratinocyte, nail, sebaceous gland.
Streszczenie
Zespół Christ-Siemens-Touraine’a charakteryzuje się nieprawidłowym powstawaniem jednego lub więcej narządów rozwijających się z ektodermy. Pierwszy raz został opisany przez Thurnama w 1848 r., a nazwany przez Weecha w 1929 r. Dotyczy rozwoju keratynocytów i prowadzi do zmian we włosach, gruczołach: łojowych, ekrynowych i apokrynowych, paznokciach, zębach, soczewce i spojówce oka, przednim płacie przysadki mózgowej, brodawce sutkowej oraz narządzie słuchu. W pracy przedstawiono przypadek 10-letniego chłopca z nietypowymi zmiana-mi: skąpym blond owłosieniem głowy, brakiem brwi i rzęs, średnią wyniosłością czołową, zapadnięciem grzbietu kostnego nosa, suchą i popękaną skórą oraz obecnością tylko 4 zębów mlecznych. Badanie radiologiczne wykazało 2 stożkowate i nieprawidłowo ukształtowane korony z całkowitymi korzeniami w kryptach kostnych w okolicy mlecznych kłów i zębów trzonowych. Dziecko było członkiem rodziny obciążonej występowaniem zespołu Christ- -Siemens-Touraine’a (Dent. Med. Probl. 2014, 51, 2, 275–280).
Słowa kluczowe: gruczoł łojowy, paznokieć, zęby, brak zawiązków zębowych, keratynocyty.
Dent. Med. Probl. 2014, 51, 2, 275–280
ISSN 1644-387X © Copyright by Wroclaw Medical University and Polish Dental Society
Christ-Siemens-Touraine syndrome is char-acterized by a defective formation of one or more structures derived from the ectoderm. It was first described by Thurnam in 1848 and was coined by Weech [1] in 1929. It is typically inherited as a cross-linked recessive trait so that the frequency and se-verity of the condition is more pronounced in males than in females [2]. Furthermore, it was redefined by Freire-Maia [3] as a developmental defect which at an
embryonic level affects the ectoderm and, therefore, the tissues and structures derived from it. Thus, it affects the development of keratinocytes and causes aberrations in the hair, sebaceous glands, ecrine and apocrine glands, nails, teeth, lenses and conjuncti-va of the eyes, anterior pituitary gland, nipples and the ears. Thus, Christ-Siemens-Touraine syndrome is also known as Hereditary Hypohydrotic ectodermal dysplasia. This disorder might occur during the first
fore the sixth week of embryonic life, which will, con-sequently, affect the dentition. After the eighth week other ectodermal structures may be affected [4]. In 1944 Felsher [4] changed the adjective anhydrotic to hypohydrotic because the persons with hypohydrotic form are not truly devoid of all sweat glands.
A definitive classification of Christ-Siemens- -Touraine syndrome or ectodermal dysplasia (ED) is difficult to formulate since many of the syn-dromes that involve ED have overlapping features. A simple attempt made by Nelson included 5 cate-gories, namely Hypohydrotic (anhydrotic), Hydrot-ic (Clouston’s syndrome), EEC (Ectodactyly ectoder-mal dysplasia) syndrome, Rapp-Hodgkin syndrome and Robinson’s disease [4]. While Lamartine [5] has classified the ED genes into 4 major functional sub-groups: cell communication and signaling, cell adhe-sion, transcription regulation, and development.
Patients with Christ-Siemens-Touraine syn-drome or hypohydrotic ectodermal dysplasia gen-erally have prominent supraorbital ridges, frontal bossing, and a saddle nose. The maxilla may be un-derdeveloped and the lips are thick and prominent. The nose may appear pinched and the aleque nasi appears hypoplastic. The patient may resemble an old edentulous person. The skin is usually dry, scaly, and easily irritated as a result of poorly developed or absent sebaceous glands. Sweat glands may also be absent, few in number or nonfunctioning, which may result in increased body temperature. Scalp hair may be absent, sparse, very finely pigmented, or ab-normal in texture. Eyebrows, eye lashes, and other body hair may also be sparse or absent. When hairs are present, they may be fragile, dry, and generally disorderly because of the lack of sebaceous glands. Finger and toe nails are usually normal [6, 7].
Furthermore, the orofacial characteristic features include frontal bossing, a depressed nasal bridge, pro-tuberant lips, and hypotrichosis, neonatal teeth, par-tial anodontia, early involvement with caries. Teeth in the permanent dentition are frequently small, con-ical, tapered (peg shaped), and widely spaced with a delayed eruption of teeth. Lack of alveolar growth may be associated with this condition and frequently results in increased interocclusal distance which al-lows optimum artificial tooth placement. The pres-ence of a short upper lip, which is bound by frenula to alveolar ridge (lip tie) as well as other defects in man-dibular alveolar ridge are also very common [8].
Case Report
A six year-old boy came to the Out Patient Dental Clinic because of the absence of teeth. The medical history revealed that the child complained of a dry
hyperpyrexia and thirst which necessitated consis-tent drinking of cold water. His parents stated that he had difficulty speaking and eating, and that has been on a soft diet. The oral examination revealed the absence of maxillary and mandibular deciduous teeth and knife-edge alveolar ridges. The child felt more comfortable in winter months. His intelligence was normal and there was no family history of ato-py or any similar findings in any of his other fami-ly members. An informed and written consent form was taken from the patient’s parents.
The patient’s mother reported that the child was born with a normal delivery. There was no history of this anomaly in the patient’s elder brother (13 years), who has normal dentition. A physical examination revealed that the boy has atypical features, which in-cluded fine, sparse blond scalp hair, the absence of eyebrow and eye lashes, mild frontal prominence, de-pressed nasal bridge, (Fig. 1), dry and wrinkled skin with eczematous patches, and dry, cracked protu-berant lips hyper trichosis, scaly and shiny skin over palm, face and soles. The form of his finger and toe-nails were normal. The oral and skin findings were consistent with Christ-Siemens-Touraine syndrome or hypohydrotic ectodermal dysplasia.
Intraoral examination revealed the presence of only 4 deciduous teeth such as upper right and left
Fig. 1. Extraoral photograph showing dry scaly skin the absence of eyelashes, eyebrows, depressed nasal bridge and alopecia
Ryc. 1. Zdjęcie zewnątrzustne – widoczna sucha i łusz-cząca się skóra, brak brwi i rzęs, zapadnięcie kostnego brzegu nosa i łysienie
first molar, which were malformed in shape (Fig. 2) and lower deciduous right and left canine which were conical in shape, knife edge alveolar ridge in lower jaw (Fig. 3). A panoramic radiograph showed 2 maxillary and 2 mandibular teeth suggestive of 2 deciduous 2nd molar and 2 canines respectively,
and one unerrupted deciduous right first molar and a W shaped soft tissue homogenous shadow super-imposed in the region of upper area. As per normal erruption time (given by Orban), no other evidence of even a single permanent tooth formation was seen in orthopantomograph (Fig. 4).
After evaluating the radiograph, we motivated both the child as well as his parents to undergo
fur-ther treatment. As in this case the patient was hav-ing problems eathav-ing and chewhav-ing, we advised the fabrication of an over denture. It was explained to the parents that as the child grows, the denture will have to be modified or replaced, and the child den-tal needs will change as growth continues, so con-tinuous dental care is needed. Patient were referred to a paediatric dermatologist for proper care of this characteristic dry skin and frequent episodes of ec-zema, and to a speech therapist for correction of any speech disorders.
Fig. 2. Upper arch showing 2 maxillary malformed deciduous molar
Ryc. 2. W szczęce widoczne 2 mleczne zęby trzonowe
z nieprawidłowo ukształtowanymi koronami Fig. 3. Lower arch showing 2 mandibular conical shaped deciduous canine and knife edge alveolar ridge Ryc. 3. W żuchwie są 2 stożkowate mleczne kły i ostro zakończony wyrostek zębodołowy
Fig. 4. Orthopantomograph showing 2 upper deciduous 2nd molars and 2 lower deciduous canine and one unerrupted
deciduous right first molar and W shaped soft tissue homogenous shadow superimposed in the region of upper area Ryc. 4. Na zdjęciu pantomograficznym widoczne: 2 mleczne zęby trzonowe w szczęce, 2 mleczne kły w żuchwie, jeden niewyrznięty pierwszy mleczny ząb trzonowy po stronie prawej i nałożony w górnej części cień tkanki miękkiej w kształcie litery W
Discussion
The most common mode inheriting Christ-Sie-mens-Touraine syndrome or Ectodermal dysplasia (ED) is X-linked. However, both recessive and dom-inant forms also exist. Autosomal recessive disor-ders are phenotypically indistinguishable from the X-linked forms. Some ED types are mild, while oth-ers are devastating. Each poth-erson with ectodermal dysplasia may have a different combination of de-fects. One may have hair and nails affected, while another may show involvement of sweat glands and teeth. Each combination is considered a distinct type of ectodermal dysplasia. Obvious manifestations of the disorders are not clinically apparent in newborns and are normally evident during infancy or early childhood. The sweat glands, hair, skin and teeth of the patient were involved in this disorder. Other ec-todermal structures were largely unaffected. In addi-tion, he had photosensitivity. These clinical features were supportive in diagnosing ED, as these are de-scribed in association with this disorder. This case needed reassurance, education, and consultation for orthodontic treatment. Life expectancy in such cas-es, by observing necessary precautions, is almost as good as in other non-affected children [9, 10].
Christ-Siemens-Touraine syndrome or Ectoder-mal Dysplasia (ED) is usually a difficult condition to treat with prosthodontic restorations because of the typical oral deficiencies and the young age when they are evaluated for treatment. Therefore, when treating a child with ED, it is important to motivate both the child as well as his parents prior to the treatment and to work with them to ensure their compliance [11].
The presentation of facial deformity, dry skin, sparse hair of the scalp, eyebrows and eyelashes and anodontia observed in the case is similar to previ-ous reports [12–15]. Xeroderma and eczema are due to anomalies of the skin appendages which may in-clude partial or total absence of the hair follicles, sweat glands and sebaceous glands [15, 16]. Dry eyes, a se-quela of diminished tears, observed in the present case report, could be due to partial or total absence of the lacrimal glands or deformity of the gland ducts as suggested in an earlier study [17]. The observation of normal form and shape finger and toenails in this case agrees with similar observation made by Shaw (1990) [14] and Basserman Nielsen (1971) [18] – Freire-Maia and Pinkeiro and Giansanti et al. (1974) [12] gave a useful classification of ectodermal dysplasia, and have reviewed extensively the associated syndromes.
In their studies, Christ-Siemens-Touraine syn-drome or hereditary hypohidrotic ectodermal dys-plasia was the most common. In studies that utilized serial cephalometric measurements, Sarnat et al. [19]. Tuchine et al. [20] and Borg and Midtgaard [21] have reported that, in general, facial growth proportion
these children despite the absence of tooth devel-opment. Congenitally, missing maxillary lateral in-cisors, maxillary and mandibular third molars are more common than total anodontia of deciduous and/or perrmanent teeth [14, 16]. In the present case, there was complete anodontia of the permanent suc-cessors and partial anodontia of the deciduous teeth. It is important to emphasize that information in re-spect of absence of anhydrotic ectodermal dysplasia in the patient’s family was given by the child’s father. This case is being documented for the rarity of its occurrence. It is recommended that the non-dental problems of such patients be managed by physicians. It is further recommended that partial or complete dentures should be constructed for these patients and readjusted from time to time to allow for normal growth of the orofacial musculature [20].
Implications for Dental
Professionals and
Educational Value
Dental professionals can iden tify and diagnose conditions that have perhaps been unrecognized as of yet by primary care physicians. Dental anomalies can be the primary manifesta tion of Christ-Siemens- -Touraine syndrome in some patients and especially in carriers; a case can be made for exposing dental radio-graphs in the very young patient beyond just those for routine caries assessment. A panoramic view of den-tition after 2 years of age can be extremely helpful in the diagnosis of Christ-Siemens-Touraine syndrome and other genetic disorders. The extent of hypodon-tia as well as morphologic defects can be assessed so that treatment plan ning can begin for prosthetic res-toration. Placing prostheses early in Christ-Siemens- -Touraine syndrome patients is important not only for aesthetics but also to maintain the alveolar ridge for implant placement later in the child’s life [22].
From this case study, dental professionals would come to know the following objectives: the objective being the recognition of possible genetic disorders that may af fect the dentition and knowledge about the various syndromes manifesting hypodontia, which would be beneficial for all dental professionals.
Conclusion
Christ-Siemens-Touraine syndrome is a rare ge-netic disorder that involves various tissues in the body. A careful and a thorough examination will lead to an accurate diagnosis. Restoration of normal func-tion should be the main concern of these patients.
References
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Address for correspondence:
Rakhi Manoj Chandak Oral Medicine and Radiology SDKS Dental College and Hospital 440010 Nagpur
India
E-mail: rakhirakhi76@gmail.com Conflict of interest: None declared Received: 20.03.2014
Revised: 27.03.2014 Accepted: 27.04.2014
Praca wpłynęła do Redakcji: 20.03.2014 r. Po recenzji: 27.03.2014 r.
