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CASE REPORT
Year : 2016  |  Volume : 34  |  Issue : 2  |  Page : 185-188
 

Christ siemens touraine syndrome: A rare case report


1 Professor and HOD, Department of Pedodontics, Government Dental College, Kozhikode, Kerala, India
2 Post Graduate Student of Pedodontics, Department of Pedodontics, Government Dental College, Kozhikode, Kerala, India
3 Professor of Pedodontics, Department of Pedodontics, Government Dental College, Kozhikode, Kerala, India

Date of Web Publication14-Apr-2016

Correspondence Address:
Dr. N Retnakumari
Professor and HOD, Department of Pedodontics, Government Dental College, 673008 Kozhikode, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.180451

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   Abstract 

Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin. The common clinical findings include hypodontia, hypohydrosis, hypotrichosis, and onychodysplasia. Although hypodontia is common, anodontia is a rare feature. Most of the patients are suffering from social rejection and consequent psychological trauma because of the facial dysmorphism and absence of multiple teeth. Oral rehabilitation is of prime importance for such patients. This article presents a case in a 5½-year-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, salivary glands, mammary glands, and tear glands. He also had complete anodontia and dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. The child gained confidence and was relieved from the psychological impact following the prosthetic rehabilitation.


Keywords: Amastia, Christ-Siemens-Touraine syndrome, ectodermal dysplasia, hypodontia, hypohydrosis, hypotrichosis


How to cite this article:
Retnakumari N, Varghese M, Kannan V P. Christ siemens touraine syndrome: A rare case report. J Indian Soc Pedod Prev Dent 2016;34:185-8

How to cite this URL:
Retnakumari N, Varghese M, Kannan V P. Christ siemens touraine syndrome: A rare case report. J Indian Soc Pedod Prev Dent [serial online] 2016 [cited 2020 Dec 5];34:185-8. Available from: https://www.jisppd.com/text.asp?2016/34/2/185/180451



   Introduction Top


Christ-Siemens-Touraine (CST) syndrome, also known as anhidrotic/hypohydrotic ectodermal dysplasia (ED) is an X-linked recessive condition seen exclusively in males resulting due to a mutation in transmembrane protein (ectodysplasin A), associated with ectodermal structures. It was first described by the British physician, Dr. J. Thurnam in 1848. [2] Ectodermal dysplasias are a large and complex group of genetically determined disorders characterized by aberrations in two or more ectodermally derived structures giving rise to pathological clinical conditions with a wide variety of defects in skin, nails, hair, sweat glands and/or teeth. As per literature, more than 190 types of ectodermal dysplasias are reported hitherto. The clinical features of these disorders are extremely variable and tend to overlap. The most common type of ectodermal dysplasia in man is Anhydrotic or Hypohydrotic ectodermal dysplasia. [3]

Affected individuals have heat intolerance, dry skin, and sparse hair. Orofacial manifestations include oligodontia, conical teeth, under developed alveolar ridges, protuberant lips, and depressed nasal ridge. The incidence of oligodontia in primary dentition is very low (<1%). A similar rare case in a 5½-year-old child is presented in this article. A multidisciplinary treatment was given to the patient and after prosthetic rehabilitation with complete denture his self-esteem had improved to a great extent.


   Case Report Top


A 5½-year-old boy reported to the Department of Pedodontics and Preventive Dentistry, Government Dental College, Kozhikode, Kerala, with complaints of absence of all teeth and dry mouth. The child had discomfort while taking hot and spicy food and difficulty in swallowing. His parents were worried since the child was reluctant to go to school due to lack of acceptance from his peers.

Further detailing of the history by his parents revealed the problems of reduced sweat and tears production and intolerance to heat and bright light. He had difficulty in speech and was strained even during sound production. The child also suffered from frequent upper and lower respiratory tract, eye, ear, and skin infections since birth.

Family history was noncontributory. His mother had pregnancy-induced hypertension and urinary tract infection (UTI) at 4 th and 5 th month of gestation, respectively. Natal history suggested that he was born by cesarean delivery due to breech presentation 15 days prematurely and had low birth weight (1.8 kg). He also had multiple natal teeth. Milestones of development were delayed, but his intellectual development was normal.

There were multiple hyper pigmented lesions and erythematous papules all over the body. Skin was dry and wrinkled. Scalp hair was sparse, thin, fine textured, and bronze. Nails were thick and brittle with subuncal hyperkeratosis. Skin over the palm and sole were thickened. Rhinitis, ear discharges signs of eye infections as well as hoarseness of voice was also noted [Figure 1]a and b and [Figure 2]a and b. An unusual finding noted in the present case was underdeveloped mammary gland with absent nipples.
Figure 1: (a) Absence of both mammary glands and nipples. (b) Multiple pigmented lesions in various stages of healing

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Figure 2: (a) Thick and brittle nails (hands). (b) Thick and brittle nails (legs)

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The child displayed frontal bossing, collapsed nasal bridge, and sunken cheeks with mild hypertelorism and wrinkling of periorbital skin. The eyebrows and eye lashes were thin and scanty. Both of his eyes were dry and had discharge showing signs of infection, photophobia, and photosensitivity. His lower facial height was reduced and the lips were thick and everted. Altogether the child had a prematurely aged appearance on his face [Figure 3]a and b.
Figure 3: (a) Frontal view showingsunken cheeks, hypertelorism, scanty eye brows, and thick and everted lips. (b) Lateral view showing frontal bossing and collapsed nasal bridge

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Intraoral examination revealed smooth and shiny oral mucosa with a depapillated tongue. Functional examination confirmed the difficulty in speaking and swallowing. There was total absence of teeth and the alveolar ridges were very thin and underdeveloped. The palatal vault was flat [Figure 4]a-c. Panoramic radiograph showed hypoplastic maxillary and mandibular ridges with complete absence of primary and permanent dentition.
Figure 4: (a) Smooth and shiny oral mucosa, complete anodontia, and hypoplastic alveolar ridge. (b) Flat palatal vault. (c) Depapilated tongue

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Clinical and radiological features were suggestive of CST syndrome.

Oral rehabilitation was provided with complete denture comprising a total of 20 teeth [Figure 5]a-c. A dry mouth gel was prescribed in order to enhance his salivary secretion. His psychological trauma was alleviated and his attitude towards attending school was changed.
Figure 5: (a) Complete denture. (b) Insertion of complete denture. (c) Prosthetic rehabilitation with complete denture

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The patient is now under regular follow-up for monitoring ridge growth, retention of the denture, and also for any irritation from the denture. Refabrication of the denture is planned when it becomes ill-fitting due to growth of the alveolar ridge. Implants can be inserted after growth completion, depending on the level of ridge growth.


   Discussion Top


EDs as defined by Freire-Maia (1971, 1977) are a group of rare, congenital, diffuse, and nonprogressive disorders that affect several ectodermal structures of the body including skin, hair, nails, teeth, and sweat glands. They are characterized by a combination of distinctive features comprising hypotrichosis, hypodontia, hypohydrosis, and onychodysplasia. Other structures of ectodermal origin that may also be involved in this condition include mammary glands, thyroid gland, thymus, anterior pituitary, adrenal medulla, central nervous system, external ear, melanocytes, cornea, conjunctiva, lacrimal gland, and lacrimal duct as well as  Meibomian gland More Detailss. Freire-Maia et al., described nearly 190 different types of EDs with a wide spectrum of clinical presentation. All of them demonstrate overlapping clinical features making their diagnosis difficult with different clinical conditions like limbmammary syndrome, incontinentia pigmenti (IP), De Scantis-Cacchione syndrome, and Turnpenny type of ED. [12],[13]

The CST syndrome affects males and is inherited through female carriers. It has a prevalence rate of 1-7 per 10,000 individuals. Patients usually exhibit facial dysmorphism with frontal bossing, prominent supraorbital ridges, hypertelorism, depressed nasal bridge, underdeveloped maxilla, and thick and prominent lips. Sebaceous and sweat glands may be absent, underdeveloped, or few; resulting in dry, scaly, and wrinkled skin with decreased sweating, heat intolerance, and hyperpyrexia. Hair follicles may be absent, hypoplastic or less, scalp and body hairs may be absent, sparse, very fine pigmented, or abnormal in texture. Anodontia or hypodontia, hypoplastic conical teeth, and underdevelopment of the alveolar ridges are the most frequently found orofacial characteristics of this syndrome. All the above mentioned features collectively make the patientbear resemblance to an oldperson. [7]

The mutant gene for this syndromeis in the q arm of X chromosome, known asectodysplasin-A and is responsible for the production of a transmembrane protein, vital for normal development of ectodermal appendages. [5]

Patients with ED usually have normal mental development and life expectancy, but they would be victims of perturbed social and emotional development and the associated psychological impact. Rare cases of mental retardation associated with ED have been reported, which can be attributed to the brain damage caused by hyperthermia. Even death can ensue due to hyperthermia in its most severe form, though it is very rare.

These patients are predisposed for ocular infection and keratoconjuctivitissicca is a common finding in such patients besides photosensitivity and photophobia. [8] The clinical picture of the present case is in agreement with almost all the classical features referred above.

The frequent occurrence of rhinitis and other upper and lower respiratory tract infections like pharyngitis, bronchitis, and pneumonia can be attributed to the scanty mucus production and deficient ciliary action along this span of area. [9] Moreover, immune deficiency can also be a possible cause for the recurrent infections. Affected patients manifest dysgammaglobulinemia and, despite therapy, have significant morbidity and mortality. [1] Hoarseness of voice results due to deficient mucous production in the larynx.

A few patients with ED have abnormal development of mammary glands, diminished subcutaneous fat, and abnormalities of breast like absent or accessory nipples. van Bokhoven et al., in 1999 reported a case of limbmammary syndrome, associated with defect in the chromosome region 3q27, [10] characterized by severe hand and/or foot anomalies including ectrodactyly, and hypoplasia/aplasia of the mammary gland and nipple. The present case could not be diagnosed as limbmammary syndrome as ectrodactyly was absent in this child. Coelho et al., in 2009 reported a case of CST syndrome with pigmentation of the limbs and hypoplasia of mammary glands in a female. [4]

Another differential diagnosis for this disease can be a rare X-linked dominant, multisystem neuroectodermal disorder, Bloch-Sulzberger syndrome or IP predominantly affecting the skin, teeth, eyes, central nervous system (CNS), hair, and nails. [11] The present case differs from IP due to the absence of neurological manifestations and differing pattern of skin lesions.

Another clinical condition, De Scantis-Cacchione syndrome which has a few features identical to the present case has been reported by Kumari et al. [12] It is an autosomal recessive degenerative disease precipitated by abnormal repair of damaged DNA that are exposed to ultraviolet (UV) radiation and environmental mutagens. The condition mostly affects the eyes and areas of skin exposed to the sun. Xeroderma pigmentosum usually appears in infancy or early childhood. Many affected children develop severe sunburn, dry skin (xeroderma), and pigmentation. Eyes may be painfully sensitive to UV rays from the sun. Eyelids are thin and their eyelashes fall out; hence appear scanty.

Turnpenny et al., reported the Turnpenny type of ED with natal teeth. It is a type of hydrotic ED with acanthosisnigricans as a characteristic feature. Oligodontia of the secondary dentition; hypoplasia of pilosebaceous unit; and thin, scanty scalp, and body hairs are other features. [13] In the current case, though he had multiple natal teeth, his was anhydrotic type of ED and the anodontia involved both primary and permanent dentition.

No cases till date have been reported to involve as many clinical features altogether in one single patient as this case.

Several literatures show that the facial dysmorphism and the absence of teeth negatively affect individuals' mental and social development. This can disturb their growth in general and cause various psychological problems. They may also suffer from peer group rejection. The present case was akin to the aforementioned features as the child was reluctant to go to school for fear of peer group rejection. So, prosthetic rehabilitation was planned with an objective to improve his esthetics.

Various prosthodontic treatment options are available to improve the esthetics, mastication, and speech for patients with ED. It involves provision of partial or complete removable dentures which are modified constantly to accommodate growth. Fixed or implant supported dentures can be in fitted when the growth is completed.

Successful use of any prosthesis is dependent on the cooperation and proper communication between the dental team and the patient and his parents. The parents of the current patient were given proper instructions regarding the usage of the denture, oral hygiene maintenance, and about the importance of recall visits. Soon, the child gained confidence and became enthusiastic to going to school. Moreover, he started interacting readily with his fellow beings after the prosthetic rehabilitation.


   Conclusion Top


CST syndrome is a rare hereditary disorder of great relevance in dentistry. The typical facial appearance and absence of teeth affects the social and psychological development of the child. Dental rehabilitation of such patients is of prime importance for the well-being of the child. The treatment may vary according to the severity of the condition, the age of the patient, and also on the socioeconomic status. This paper presents an unusual case of CST syndrome with overlapping features of a number of ED syndromes and about the dental management of the same.

 
   References Top

1.
Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 2000;67:1555-62.  Back to cited text no. 1
    
2.
Thurnam J. Two cases in which the skin, hair and teeth were very imperfectly developed. Med Chir Trans 1848;31:71-82.  Back to cited text no. 2
    
3.
Drogemuller C, Distl O, Leeb T. X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle. Genet Sel Evol 2003;35:S137-45.  Back to cited text no. 3
    
4.
Coelho LG Jr, Caldas AF Jr, Soriano EP, Rodrigues VM, Costa RS. Christ Siemens Touraine syndrome: A case report. Cases J 2009;2:38.  Back to cited text no. 4
    
5.
Ramnarayan BK. Christ-Siemens-Touraine syndrome with palmoplantar keratoderma: A case report. Hong Kong Dent J 2009;6:108-12.  Back to cited text no. 5
    
6.
Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. Am J Med Genet A 2009;149:1980-2002.  Back to cited text no. 6
    
7.
Bal C, Bal BT, Tufekcioglu D. Treatment considerations for a patient with hypohidrotic ectodermal dysplasia: A case report. J Contemp Dent Pract 2008;9:128-34.  Back to cited text no. 7
    
8.
Leao JC, Ferreira AM, Bandeira V, Figueiroa FV, Porter SR. Anhydrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). A case report. Int Dent J 2005;55:89-92.  Back to cited text no. 8
    
9.
Clark RA, Omenn GS. Anhidrotic ectodermal dysplasia with frequent infections and amyloidosis. West J Med 1977;126:225-8.  Back to cited text no. 9
    
10.
van Bokhoven H, Jung M, Smits AP, van Beersum S, Ruschendorf F, van Steensel M, et al. Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. Am J Hum Genet 1999;64:538-46.  Back to cited text no. 10
    
11.
Phan TA, Wargon O, Turner AM. Incontinentia pigmenti case series: Clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. Clin Exp Dermatol 2005;30:474-80.  Back to cited text no. 11
    
12.
Retna N, Kumari SS, Sarada PN. Desanctis cacchione syndrome: A case report. J Indian Dent Assoc 2009;3:121-4.  Back to cited text no. 12
    
13.
Turnpenny PD, De Silva DC, Gregory DW, Gray ES, Dean JC. A four generation hidrotic ectodermal dysplasia family: An allelic variant of Clouston syndrome? Clin Dysmorphol 1995;4:324-33.  Back to cited text no. 13
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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