(Pollitt syndrome, Itin syndrome, Sabinas syndrome, Tay syndrome, BIDS syndrome, SIBIDS syndrome, PIBIDS syndrome, IBIDS syndrome)

Rare: around 1/106.. Autosomal recessive transmission. Group of diseases where hair is short, sparse and fragile and low in sulphur. In polarized light, the hair presents alternating dark and light bands ("Tiger tail" picture); at electron microscopy, the cuticle of the hair is abnormal or absent. There are numerous syndromes where tissues originating from the neuroectoderm are abnormal.

They are therefore often associated with:

-        ichthyosis (see this term)

-        abnormal nails

-        growth retardation

-        intellectual deficit.

In 50 % of cases photosensitivity is observed due to an abnormality of the processes of repair of DNA damaged by UV rays, as in xeroderma pigmentosum type D. The majority of these cases is caused by a mutation of the XPD (or ERCC2) gene on 19q13.2-q13.3. Others are due to a mutation in the XPB gene.

• trichothiodystrophy type B or Sabinas syndrome [MIM 211 390]: mutation of the C7ORF11 gene; no photosensitivity; short stature, mental retardation, sterility, alopecia from birth and very rare axillary and pubic hair after puberty.
• trichothiodystrophy type C or Pollitt syndrome [MIM 275 550, 126 340]: mutation of the XPD gene , photosensitivity, deafness, agenesis of the corpus callosum, microcephaly, cerebellar ataxia, poorly expressive facies, hyperostosis, short stature with short limbs
• trichothiodystrophy type D or BIDS syndrome or Amish - brittle hair syndrome [MIM 234 050]; mutation of the C7ORF11 gene on 7p14.1; no photosensitivity
• trichothiodystrophy type E or Tay syndrome IBIDS syndrome : short stature, mental retardation, hypogonadism, cataract,
• trichothiodystrophy type F or PIBIDS syndrome: photosensitivity
• trichothiodystrophy type G or ONMRS (acronym for Onichotrichodysplasia chronic Neutropenia mild Mental Retardation Syndrome) or Itin syndrome or SIBIDS syndrome [MIM 258 360]: osteosclerosis, chronic neutropenia, mental retardation

Anesthetic implications:

according to the anomalies; in case of photosensitivy, minimize exposure to the daylight, as well as to certain halogen and neon lights that emit UV rays.

References : 

-        Faghri S, Tamura D, Kraemer KH, DiGiovanna JJ. 
Trichothiodystrophy : a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. 
J Med Genet 2008; 45: 609-21.

-         Lopez-Garcia DR, Salas-Alanis JC, Christiano AM et al. 
Sabinas syndrome in monozygotic twins. 
Clin Exp Dermatol 2009; 34: e94-8. 

-        Garon L, Kokta V, Coulombe J.
Trichothiodystrophy.
JAMA Dermatology, June 2023

Updated: July 2023