|LETTER TO EDITOR
|Year : 2019 | Volume
| Issue : 3 | Page : 282-284
Palmoplantar keratoderma in a classical case of christ-siemens-touraine syndrome: A rare association
Prince Yuvraj Singh, Aradhana Sood, Preema Sinha, Saikat Bhattacharjee
Department of Dermatology, Armed Forces Medical College, Pune, Maharashtra, India
|Date of Web Publication||28-Jun-2019|
Prince Yuvraj Singh
Department of Dermatology, Armed Forces Medical College, Pune, Maharashtra
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Singh PY, Sood A, Sinha P, Bhattacharjee S. Palmoplantar keratoderma in a classical case of christ-siemens-touraine syndrome: A rare association. Indian J Paediatr Dermatol 2019;20:282-4
|How to cite this URL:|
Singh PY, Sood A, Sinha P, Bhattacharjee S. Palmoplantar keratoderma in a classical case of christ-siemens-touraine syndrome: A rare association. Indian J Paediatr Dermatol [serial online] 2019 [cited 2019 Jul 16];20:282-4. Available from: http://www.ijpd.in/text.asp?2019/20/3/282/261867
Ectodermal dysplasias (EDs) are a rare inherited group of disorders characterized by developmental defects in minimum two of the major embryonic ectoderm-derived structures – hair, teeth, skin, and sweat glands. Clinically, EDs are divided into hidrotic ED (Clouston syndrome) and hypohidrotic (anhidrotic) ectodermal dysplasia (HED). We describe a rare but classic case of HED with a rare association with palmoplantar keratoderma, which is usually seen in Clouston syndrome.
A 9-year-old male, born out of nonconsanguineous, full-term normal delivery, presented with recurrent itchy, scaly, dry skin since birth. There was history of reduced sweating, heat intolerance and recurrent febrile seizures, scanty hair growth over the scalp, eyebrows, and eyelashes, and absence of teeth. There was no similar family history, and he had a younger sister who did not have similar complaints. Examination revealed thin, sparse, light-colored, fragile hairs over the scalp with loss of eyebrows and eyelashes [Figure 1]. He had a peculiar facies with frontal bossing, saddle nose, periorbital and perioral hyperpigmentation, dry and wrinkled skin, and everted lips [Figure 2]. There was hypodontia with a single upper left deciduous premolar and rudimentary alveolar process [Figure 3]. The patient also had palmoplantar keratoderma [Figure 4]. The oral mucosa, palate, and nails were normal. The patient has not had attained puberty and secondary sexual characters. There was no evidence of mental retardation. X-ray skull revealed a brachiocephalic skull with a solitary tooth in the left maxillary alveolar ridge [Figure 5]. Transepidermal water loss (TEWL) study using Delfin Vapometer showed reduced TEWL as compared to age-matched normal control. The skin biopsy was suggestive reduced number of eccrine sweat glands in dermis [Figure 6]. Based on history, clinical examination, and radiological features, a diagnosis of HED was made.
|Figure 2: Frontal bossing, saddle nose, periorbital and perioral hyperpigmentation, everted lip, and absent eyebrows and eyelashes with dry skin|
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|Figure 3: Hypodontia with a single upper left deciduous premolar and rudimentary alveolar process|
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|Figure 5: Brachiocephalic skull with a single tooth in the left maxillary alveolar ridge|
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|Figure 6: Histopathology revealed reduced number of eccrine sweat glands (blue arrow) in the dermis (H and E, ×40)|
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HED, also known as Christ-Siemens-Touraine syndrome More Details, is characterized by a triad of hypotrichosis, hypodontia/anodontia, and anhidrosis/hypohidrosis. HED is the most common form of ED in humans with an incidence at birth of 1 in 100,000 males. It is caused by mutations in the EDA, EDAR, and EDARADD genes which cause genetic defects in ectodysplasin signal transduction pathways. Clinically, the patients have sparse scalp and body hair (hypotrichosis) which are often light colored, brittle, and slow growing. Teeth may be absent (hypodontia) or malformed. Patient has distinctive facial features including a prominent forehead, thick protruding lips, saddle nose, and thin, wrinkled, and hyperpigmented periorbital and perioral skin. HED patients are prone to develop hyperthermia with physical exertion or on exposure to a warm environment because of severely diminished ability to sweat. Infants often present with recurrent high fevers and 6% of the affected children experience febrile seizures. Other features include chronic eczema, xerosis, and a bad-smelling discharge from the nose (ozena). Our case had all these characteristic findings along with palmoplantar keratoderma which is usually observed in hidrotic ED. To the best of our knowledge, the association of HED and palmoplantar keratoderma hardly finds a mention in the literature.,
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.
The authors are thankful to the family of our patient for their support and cooperation.
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]