Case for diagnosis

Abstracts

A síndrome de Christ-Siemens-Touraine (displasia ectodérmica hipoidrótica) é uma síndrome rara, caracterizada pela tríade de sudorese reduzida ou ausente, hipotricose e dentição defeituosa. Bossas frontais proeminentes, nariz em sela, lábio inferior espesso e queixo pontudo fazem com que os pacientes tenham uma fácies característica e semelhante. A síndrome completa ocorre em homens, visto tratar-se de herança recessiva ligada ao X.

Dermatopatias genéticas; Displasia ectodérmica; Síndrome de Christ-Siemens-Touraine

WHAT IS YOUR DIAGNOSIS ?

Case for diagnosis: (Ectodermal dysplasia: Christ-Siemens-Touraine Syndrome)

Isabella Brasil Succi^I; Elisa Fontenelle^II

^IGraduate course student in Dermatology of the Institute of Dermatology Prof. Azulay - Santa Casa da Misericórdia do Rio de Janeiro – Rio de Janeiro (RJ), Brazil

IIHead of Outpatient Pediatric Dermatology of the Institute of Dermatology Prof. Azulay - Santa Casa da Misericórdia do Rio de Janeiro – Rio de Janeiro (RJ), Brazil

Mailing Address

ABSTRACT

Christ-Siemens-Touraine syndrome (hypohidrotic ectodermal dysplasia) is a rare syndrome characterized by the triad of absent or reduced sweating, hypotrichosis, and defective dentition. The prominent forehead, saddle nose, thick lower lip and pointy chin produce a distinctive facies. The full syndrome only occurs in men as it is an X-linked recessive condition.

Keywords: Ectodermal dysplasia; Ectodermal dysplasia 1, anhidrotic; Skin diseases, genetic

DISEASE BACKGROUND

Male brown, 10 year-old student sought the Dermatopediatriacs outpatient clinic with a complaint of a white face spot for a month. The patient denied previous conditions, except for episodes of high fever during childhood. Upon skin examination there was a hypochromic macule of approximately 1.0 cm x 0.5 cm on the right pre-auricular region. He also had sparse, fine, thinning eyebrow hair (Figura 1), partial hypodontia (absence of lower medial and lateral incisors and conical canine) (Figura 2), and dry skin.

Ophthalmologic assessment requested was uneventful, and panoramic x-ray showed the absence of teeth buds 18,17,15,14,25,27,28,38,34,32,31,41,42,45,48 and conoid 12,11,21,22 teeth (Figura 3). The iodine test to test sweating was negative.

The patient's main complaint, compatible with pityriasis alba, remitted after about eight weeks by using sun block and skin moisturizing.

COMMENTS

Christ-Siemens-Touraine syndrome (hypohidrotic ectodermal dysplasia) is characterized by the partial or complete absence of sweat glands, hypotrichosis and hypodontia. It is a recessive X-linked inherited condition. The incidence is approximately 1:100,000 newborn, and 90% of patients are male. Women do not present the complete syndrome1-3, but the mothers of these children have the causal gene and light manifestations such as local areas of hypohidrosis, sparse hair or eyebrows, little milk, dental alterations4 and dermatoglyphic abnormalities¹ . Affected new born may have a colloid membrane or ictiosis type skin flaking⁵ . Patients affected have a typical appearance; they look more alike each other than with their own siblings.²

Clinical changes include: absent or reduced sweating, hypotrichosis, total or partial anodontia. In the complete syndrome presentation we may find: frontal wrinkles, saddle nose, thick everted lips, large ears, prominent tibia and dry skin.¹ The reduced perspiration capacity results in hyperthermia and patients manifest intermittent fever, especially during hot weather, and after exercise or meals. Alopecia is one of the first characteristics that draw attention, but it is rarely total. Hair is sparse, fine, dry, permanently short and little pigmented. ² Eyebrows are thin or absent, but eyelashes are generally normal. Body hair may be absent or scarce. Incisor and/or canine teeth are characteristically conical and pointy and are the key to diagnose the syndrome, and may be the only obvious abnormality.¹ First and second teething are affected.⁵ The mandible is normal, but the gum is atrophic. The mouth may be dry due to salivary gland hypoplasia, favoring caries to emerge earlier. There may be atrophic rhinitis, persistent nose discharge and formation of flakes, chronic respiratory infections and hearing problems. Atopic eczema and asthma may be present. The reduction of gastro-intestinal tract mucosa glands may lead to dysphagia, stomatitis and diarrhea. Nail abnormalities occur in 50% of cases1 and are characterized by fine and wrinkled nails. Eye abnormalities are uncommon, although lenticular and corneal opacities may occur, in addition to absence of tear orifice³.

The diagnosis should be suspected in the case of flaking at birth and/or unexplained hyperthermia. The characteristic facies is patognomonic. ¹

Cold baths, fresh environment, light clothes and restriction to physical exertion are the basic treatment guidance.^1-3 Visits to the dentist should be regular with dental intervention such as prostheses or dental implants to preserve function and esthetics. Eye drops and nasal irrigation may make up for reduced gland secretion. ²

REFERENCES

• 1. Harper JI, Trembath RC. Ectodermal Dysplasias. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook's Textbook of Dermatology. 7th ed. London: Blackwell Publishing; 2004. p. 40-2.
• 2. Paller AS, Mancini AJ. Disorders of hair and nail. In: Paller AS, Mancini AJ. Hurwitz clinical pediatric dermatology. 3rd ed. Philadelphia: Elsevier Saunders; 2006. p. 153-5.
• 3. Palit A, Inamadar A. Christ-Siemens-Touraine syndrome. Pediatr Dermatol. 2006;23:396-8.
• 4. Sampaio SAP, Rivitti EA. Doenças poiquilodérmicas e displasias ectodérmicas. In: Sampaio SAP, Castro RM, Rivitti EA. Dermatologia. 2 ed. Săo Paulo: Artes Médicas; 2000. p. 799.
• 5. Sybert VP, Zonana J. Ectodermal dysplasias. In: Bologna JL, Jorizzo JL, Rapini RP. Dermatology. London: Mosby; 2003. p. 906-7.

*

Trabalho realizado no Instituto de Dermatologia Prof. Azulay - Santa Casa da Misericórdia do Rio de Janeiro - Rio de Janeiro (RJ), Brasil.

Publication Dates

• Publication in this collection
  03 June 2009
• Date of issue
  Apr 2009

History

• Accepted
  12 Mar 2008
• Received
  06 Feb 2007