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CASE REPORT
Year : 2020  |  Volume : 21  |  Issue : 3  |  Page : 224-228

Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case report


Department of Dermatology, S. Nijalingappa Medical College and HSK Hospital, Bagalkot, Karnataka, India

Date of Submission10-Apr-2018
Date of Decision13-Dec-2018
Date of Acceptance26-Apr-2020
Date of Web Publication30-Jun-2020

Correspondence Address:
Dr. Priyanka Suresh Jaju
Department of Dermatology, S. Nijalingappa Medical College and HSK Hospital, Navanagar, Bagalkot - 587 102, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_115_18

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  Abstract 


Ectodermal dysplasia (ED) is used to define a group of inherited disorders characterized by the presence of abnormalities in two or more ectodermal derived structures, including hair, teeth, nails, or sweat glands. A 2-month-old boy presented with complaints of reduced scalp hair growth and loss of eyebrows since birth. He had a history of recurrent high fever and had been admitted twice for the same. Clinical examination of the patient revealed a fine, sparse, light-colored, short and dry hair over the scalp, with the absence of eyebrows, and eyelashes. The skin was smooth, dry with a prominent forehead and protuberant lips. Growth and developmental history were not significant. Trichoscopy showed absence or markedly reduced number of white dots. It corresponded to a finding of hypoplastic follicles with the absence of eccrine and sebaceous glands; these findings were consistent with histopathology. Dermoscopy is a noninvasive technique which aids in the clinical diagnosis of Christ-Siemens-Touraine syndrome by correlating clinical features histopathologically.

Keywords: Christ-Siemens-Touraine syndrome, dermoscopy, ectodermal dysplasia, genetics, pediatric dermatology


How to cite this article:
Jaju PS, Madarkar M, Ankad BS, Gupta A. Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case report. Indian J Paediatr Dermatol 2020;21:224-8

How to cite this URL:
Jaju PS, Madarkar M, Ankad BS, Gupta A. Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case report. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Aug 12];21:224-8. Available from: http://www.ijpd.in/text.asp?2020/21/3/224/288485




  Introduction Top


Ectodermal dysplasia (ED) is used to define a group of inherited disorders characterized by the presence of abnormalities in two or more ectodermal derived structures, including hair, teeth, nails, or sweat glands.[1]

It was first reported by Danz in two Jewish boys with congenital absence of the hair and teeth in 1793.[2] In 1875, Charles Darwin reported about a Hindu family with hypodontia and malformed teeth, it was believed that “The men thus affected have very little hair on the body, and become bald early in life. They also suffer much during hot weather from the excessive dryness of the skin.”[3]

In the present case report, we exhibit a case of  Christ-Siemens-Touraine syndrome More Details along with the dermoscopic features and its histopathological corelation.


  Case Report Top


A 4-month-old boy presented to the outpatient department of dermatology in a tertiary care hospital with complaints of reduced scalp hair growth and loss of eyebrows since birth. There was a history of recurrent high fevers and had been admitted twice for the same. His mother reported that he does not sweat. Clinical examination of the patient revealed a fine, sparse, light-colored, short and dry hair over the entire scalp, with the absence of eyebrows, and eyelashes. The skin was smooth, dry with a prominent forehead and protuberant lips and spock ears. He had no nail dystrophy [Figure 1]. The areolae were lightly pigmented and widely spaced. Growth and developmental history were normal [Figure 2].
Figure 1: The absence of hair all over the body including scalp and eyebrows, puckered lips, spock ears, and lightly pigmented nipples with dry scaly skin over the scalp

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Figure 2: The loss of hair on the scalp with mild scaling

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Dermoscopic evaluation of the scalp showed markedly reduced number of white dots signifying the loss of eccrine glands and hair follicles over the scalp and body. Few hypopigmented vellus hairs were seen [Figure 3]. Dermoscopy of other parts of the body showed a complete absence of white dots [Figure 4], [Figure 5], [Figure 6].
Figure 3: Dermoscopy of scalp showing a markedly reduced number of white dots with sparse vellus hair red circle indicate hair follicles. Yellow circle indicate eccrine gland openings (DermLite 3, non-contact polarized, ×10)

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Figure 4: Dermoscopy of skin on the back showing complete absence of white dots (DermLite 3, non-contact polarized, ×10)

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Figure 5: Dermoscopy of the palms with the absence of sweat glands (DermLite 3, non-contact polarized, ×10)

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Figure 6: Dermoscopy of the forehead with the absence of eccrine openings (DermLite 3, non-contact polarized, ×10)

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Trichogram showed hypopigmented hair shaft without medulla and distortion of the follicular bulb [Figure 7].
Figure 7: Trichrogram showing hypopigmented hair shaft with the absent medulla and marked distortion of the follicular bulb

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Histopathology showed markedly thinned out epidermis with flattening of rete ridges and complete absence of the eccrine glands and sebaceous glands corresponding with dermoscopic findings [Figure 8].
Figure 8: Histopathology showing thinned out epidermis with flattening of rete ridges. There is a complete absence of eccrine gland s in the dermis (H and E, ×400)

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  Discussion Top


ED is a rare disorder involving ectodermal structures. Although inheritance can be autosomal dominant or recessive, Thurnam described X-linked recessive hypohidrotic ED as the most frequent form.[2] As seen typically in X-linked recessive disorders, males are affected and females act as carriers while expressing none, some, or all of the features of the disorder.

The prevalence rate of the X-linked form of hypohidrotic ectodermal dysplasia (HED) is estimated to be 0.5–2 in 10,000 live-born boys. It is found equally in all racial and ethnic groups.[4]

Depending on the number and functionality of the sweat glands ED is classified as two major types: (1) anhidrotic or hypohidrotic, where sweat glands are either absent or significantly reduced in number (Christ-Siemens-Touraine syndrome) and (2) hidrotic, where sweat glands are normal (Clouston's syndrome).[5],[6],[7]

HED is a group of disorders with the following features: Sparse or absent hair, missing or peg-shaped teeth, and decreased sweating.[2],[8]

The classification systems for EDs were based on the clinical manifestations until the end of the 20th century. Pinheiro and Freire-Maia classified the condition into compressive groups depending on the presence of hair, nail, tooth or sweat gland abnormalities, and assigned conditions to groups using a “1-2-3-4 system.”[9],[10]

Based on this classification, the patient would be considered to have an isolated 1–4 ED.

ED is due to mutation in gene ectodysplasin (EDA, EDA1, HED) responsible for HED affect the EDA signal transduction pathway.[11] During morphogenesis, this pathway is responsible for the development of the tooth, hair follicle, and eccrine gland from the epithelial cells.[12]

Affected newborns may present with a marked scaling or peeling of the skin which may be mistaken for collodion membrane. Scalp hair is sparse to absent. The hair when present is lightly pigmented, dry, and lusterless. Eyebrows and eyelashes are scanty or usually absent. Often nails are normal.[13],[14]

The skin is smooth, pale, and dry with wrinkle formation and characteristics of early aging. Periorbital wrinkling and hyperpigmentation are common. The newborns have a characteristic facies characterized by a saddle nose, full everted lips and frontal bossing, and a characteristic deformation of ears called spock ears.[3]

Occasionally, unilateral or bilateral amastia can be seen.

Teeth may be absent or reduced in number and abnormally shaped (e.g., peg-shaped). Dental abnormalities include anodontia or hypodontia and odontodystrophy). Usually, the incisor and/or canine teeth are small, conoid, and pointed.[3],[15],[16]

There is a paucity or absence of the eccrine glands resulting in reduced or absent sweating in most of the male patients.[12]

As the infants have a lower body surface area ratio, the dysfunction of thermoregulation results in recurrent bouts of high fever during the 1st few years of life. Thus, it can be fatal if not recognized early.

Affected infants often develop recurrent respiratory tract infections and feeding problems.

As congenital HED is a rare disease with late typical clinical alterations diagnosis becomes grueling only on the basis of clinical examination.

Dermoscopy is a noninvasive tool that permits visualization of structures not visible to the naked eye. It is widely gaining popularity for the evaluation of pigmented and nonpigmented skin lesions as well as in hair disorders.[17]

Dermoscopy is the transillumination of a lesion and helping in the visualization of the underlying structures with high magnification.[18]

The technique of studying hair and scalp disorder s using a dermoscopy is termed as trichoscopy. Because of noninvasiveness and easy accessibility to the hair or scalp, it is very useful in clinical practice. By trichoscopy, the skin biopsy can be avoided that is otherwise necessary to precisely diagnose an underlying condition.[19]

Normal trichoscopic pattern that can be seen by dermoscopy are follicular and interfollicular patterns. The follicular pattern consists of a yellow dot, white dots, and black dots.[20] Yellow dots correspond to dilated infundibular ostia with sebaceous material. White dots correspond to empty follicles replaced by fibrous tracts as well as sweat gland openings. They are usually seen in dark-skinned individuals or over the tanned areas in light-skinned individuals.[21]

The eccrine duct openings appear pale, small (0.2–0.3 mm), well-defined, and rounded structures, placed regularly in contrast to empty follicular openings, which are larger (>0.3 mm) and irregularly placed.[22]

In our case, we observed a marked reduction in a number of small, sharply demarcated pinpoint white dots signifying scarcity of eccrine glands on the scalp and its absence on the rest of the body. There was an absence of normal follicular units. Normal human scalp consists of 10% of vellus hair, which are hypopigmented, nonmedullated hair<30 μ thick and<2–3 mm long.[22] Here, we observed > 0% vellus hair.

In conclusion, in cases of clinical hesitancies like this one, dermoscopy comes as a suitable rescue tool.


  Conclusion Top


Anhidrotic ED syndrome is a rare disorder that must be considered when investigating infants or neonates with the absence of hair. During the neonatal period, the clinical manifestations of the disease are subtle and unspecific. Hence, dermoscopy aids us in diagnosing the condition by adding up the skin manifestations with systemic features.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Itin PH. Ectodermal dysplasia: Thoughts and practical concepts concerning disease classification – The role of functional pathways in the molecular genetic diagnosis. Dermatology 2013;226:111-4.  Back to cited text no. 1
    
2.
Danz DFG. Sechste Bemerkung. Von Menschen ohne Haare und Zähne. Arch Geb Frauen Neugeb Kinderkr 1793;4:684.  Back to cited text no. 2
    
3.
Darwin C. The variations of animals and plants under domestication. 2nd ed. Vol. 2. London: John Murray; 1875. p. 319.  Back to cited text no. 3
    
4.
Nielsen MN, Skovbo S, Svaneby D, Pedersen L, Fryzek J. The prevalenceof X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995–2010. Eur J Med Genet 2013;56:236-42.  Back to cited text no. 4
    
5.
Nunn JH, Carter NE, Gillgrass TJ, Hobson RS, Jepson NJ, Meechan JG, et al. The interdisciplinary management of hypodontia: Background and role of paediatric dentistry. Br Dent J 2003;194:245-51.  Back to cited text no. 5
    
6.
Vieira KA, Teixeira MS, Guirado CG, Gavião MB. Prosthodontic treatment of hypohidrotic ectodermal dysplasia with complete anodontia: Case report. Quintessence Int 2007;38:75-80.  Back to cited text no. 6
    
7.
Yavuz İ, Ülkü SZ, Ünlü G, Kama JD, Kaya S, Adıgüzel O, et al. Ectodermal dysplasia: Clinical diagnosis. Int Dent Med Disord 2008;1:1-10.  Back to cited text no. 7
    
8.
Bree AF, Agim N, Sybert V. Ectodermal dysplasia. In: Goldsmith LA, Katz SI, Gilchrest BA, editors. Fitzpatrick's Dermatology in General Medicine. New York: McGraw-Hill; 2012. p. 1691-702.  Back to cited text no. 8
    
9.
Freire-Maia N, Pinheiro M. Ectodermal Dysplasias: A Clinical and Genetic Study. New York: Alan R. Liss; 1984. p. 251.  Back to cited text no. 9
    
10.
Vincent MC, Biancalana V, Ginisty D, Mandel JL, Calvas P. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet 2001;9:355.  Back to cited text no. 10
    
11.
Sadier A, Viriot L, Pantalacci S, Laudet V. The ectodysplasin pathway: From diseases to adaptations. Trends Genet 2014;30:24-31.  Back to cited text no. 11
    
12.
Clarke A, Phillips DI, Brown R, Harper PS. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987;62:989-96.  Back to cited text no. 12
    
13.
Motil KJ, Fete TJ, Fraley JK, Schultz RJ, Foy TM, Ochs U, et al. Growth characteristics of children with ectodermal dysplasia syndromes. Pediatrics 2005;116:e229-34.  Back to cited text no. 13
    
14.
Kirtikant CS, Dipak DU. Unusual cutaneous manifestations of anhidrotic ectodermal dysplasia. J Dermat 1990;17:380-4.  Back to cited text no. 14
    
15.
Hizli S, Ozdemir S, Bakkaloǧlu A. Anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) presenting as a fever of unknown origin in an infant. Int J Dermatol 1998;37:132-4.  Back to cited text no. 15
    
16.
Argenziano G, Soyer HP, Chimenti S, Talamini R, Corona R, Sera F, et al. Dermoscopy of pigmented skin lesions: Results of a consensus meeting via the Internet. J Am Acad Dermatol 2003;48:679-93.  Back to cited text no. 16
    
17.
Stolz W, Bilek P, Landchaer M, Amandcogneta WS, editors. Basis of dermatoscopy and skin-surface microscopy. In: Color Atlas of Dermatoscopy. 1st ed. Germany: Blackwell Publications; 1994. p. 7-10.  Back to cited text no. 17
    
18.
Olszewska M, Rudnicka L, Rakowska A, Kowalska-Oledzka E, Slowinska M. Trichoscopy. Arch Dermatol 2008;144:1007.  Back to cited text no. 18
    
19.
Ross EK, Vincenzi C, Tosti A. Videodermoscopy in the evaluation of hair and scalp disorders. J Am Acad Dermatol 2006;55:799-806.  Back to cited text no. 19
    
20.
Kossard S, Zagarella S. Spotted cicatricial alopecia in dark skin. A dermoscopic clue to fibrous tracts. Australas J Dermatol 1993;2:34, 49-51.  Back to cited text no. 20
    
21.
Singh B, Kar BR. Dermoscopic approach to non-scarring alopecia. Int J Dermoscop 2017;1:1-5.  Back to cited text no. 21
    
22.
Rudnika L, Olszewska M, Rakowska A. Hair shafts. In: Atlas of Trichoscopy. 1st ed. London: Springer; 2012. p. 11-46.  Back to cited text no. 22
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]



 

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