Sindrom Christ-Siemens-Touraine atau displasia ektodermal adalah penyakit genodermatosis akibat tidak efektifnya 2 atau lebih struktur atau fungsi yang berasal dari ektoderm. Sindrom ini sangat jarang dan sulit didiagnosis, serta dapat disertai keterlibatan beberapa organ.
       Dilaporkan satu kasus pasien anak laki-laki berusia 8 bulan dengan keluhan sejak lahir timbul lenting-lenting di kepala yang kemudian mengering dan mengelupas. Lesi bertambah di wajah, lengan, tungkai, badan sehingga kulit kering dan kasar. Selain itu dikeluhkan suhu badan sering meningkat bila di lingkungan panas, air mata selalu meleleh ke pipi, menangis bila ada cahaya, keluar cairan bening dari kedua telinga, suara tangisan kecil, melengking, serta sering batuk-pilek, dan suara serak. Pasien tidak berkeringat, walaupun berada di tempat panas, tetapi bagian ketiak teraba agak lembab. Pasien tidak memiliki papil payudara dan frenulum tampak atrofi sejak lahir. Pemeriksaan histopatologik menunjukkan gambaran yang dapat ditemukan pada ektodermal displasia tipe anhidrotik. Telah dilakukan konsultasi kemungkinan keterlibatan organ ke spesialis anak, mata, dan THT.
       Sindom Christ-Siemen-Touraine pada pasien ditegakkan berdasarkan ditemukannya kelainan pada lebih dari 2 struktur yang berasal dari ektoderm. Pemeriksaan penunjang guna membangun diagnosis serta tatalaksana memerlukan kerjasama multi disiplin ilmu. (MDVI 2011; 38/s: 44s - 48s)

Kata kunci: genodermatosis, ektodermal displasia, multi organ, multi disiplin ilmu.

       Christ-Siemens-Touraine syndrome or ectodermal dysplasia is a genodermatosis due to the ineffectiveness of 2 or more structures or functions derived from ectoderm. This syndrome is accompanied by multiple organ involvement.
       We reported a case of 8 months boy with complaints since birth arising springy resilience in the head and then drying and flaking. Lesions grew on the face, arms, legs, and body, lead the skin became dry and rough. Patients also complained with increased body temperature when he stay in the hot places, tears always melted into cheek, cry when there is light, clear liquid came out of both ears, a small voice cries, shrill and frequent coughs, colds and hoarseness. Patient did not sweat, even in hot places, except axilla region was wet. Patient did not have papilla mammae and frenulum looks atrophy since birth. Histopathological examination showed a picture that can be found in anhydrotic type of ectodermal dysplasia. Consultation for multi-organ involvement had been done to Child health, eye, and ENT departments.
     Diagnosis of Christ-Siemens-Touraine syndrome was based on more than 2 abnormalities in structures derived from ectoderm. Examination, diagnosis and management require multidisciplinary approached. (MDVI 2011; 38/s: 44s - 48s)

Key words : genodermatosis, ectodermal dysplasia, multi-organ, multi disciplinary approache