|Year : 2020 | Volume
| Issue : 3 | Page : 224-228
Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case report
Priyanka Suresh Jaju, Mahajabeen Madarkar, Balachandra S Ankad, Aakash Gupta
Department of Dermatology, S. Nijalingappa Medical College and HSK Hospital, Bagalkot, Karnataka, India
|Date of Submission||10-Apr-2018|
|Date of Decision||13-Dec-2018|
|Date of Acceptance||26-Apr-2020|
|Date of Web Publication||30-Jun-2020|
Dr. Priyanka Suresh Jaju
Department of Dermatology, S. Nijalingappa Medical College and HSK Hospital, Navanagar, Bagalkot - 587 102, Karnataka
Source of Support: None, Conflict of Interest: None
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 Jul 10];21:224-8. Available from: http://www.ijpd.in/text.asp?2020/21/3/224/288485
| Introduction|| |
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.
It was first reported by Danz in two Jewish boys with congenital absence of the hair and teeth in 1793. 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.”
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|| |
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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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|| |
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. 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.
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).,,
HED is a group of disorders with the following features: Sparse or absent hair, missing or peg-shaped teeth, and decreased sweating.,
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.”,
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. During morphogenesis, this pathway is responsible for the development of the tooth, hair follicle, and eccrine gland from the epithelial cells.
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.,
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.
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.,,
There is a paucity or absence of the eccrine glands resulting in reduced or absent sweating in most of the male patients.
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.
Dermoscopy is the transillumination of a lesion and helping in the visualization of the underlying structures with high magnification.
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.
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. 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.
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.
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. Here, we observed > 0% vellus hair.
In conclusion, in cases of clinical hesitancies like this one, dermoscopy comes as a suitable rescue tool.
| Conclusion|| |
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
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]