Trichothiodystrophy

Classification according to ICD-10
L67.8	Other abnormalities in hair color and hair shaft
ICD-10 online (WHO version 2019)

The trichothiodystrophy ( altgrie. Τριχο- trichomes "hair", θειον = "sulfur" δυσ- (dys) 'mis-, un-' and πλάσειν (plasein) 'form, shape), short TTD is a heterogeneous group of diseases with the hallmarks of short, brittle hair with low sulfur content.

root cause

This is due to a disruption in the synthesis of sulfur-containing keratins.

Epidemiology

The exact prevalence is unknown. Inheritance is autosomal - recessive .

Clinical manifestations

Diagnostic criteria are:

• short, brittle hair Trichorrhexis nodosa
• often ichthyosis- like skin
• often stunted growth
• sometimes nail atrophy koilonychia
• Photosensitivity at around 50% TTD-P

This is mostly due to mutations in the XPD / ERCC2 gene at location 19q13.2-q13.3 .

Diagnosis

The diagnosis can be made by examining hair in polarized light or under a scanning electron microscope . A prenatal diagnosis is possible by analyzing the DNA repair in the trophoblasts or in the amniocytes.

Differential diagnostics

Must be distinguished are Congenital alopecia .

Lower forms

Depending on the accompanying further changes, a distinction is made between the following forms:

• Trichothiodystrophy type C, synonym: pollit syndrome, trichorrhexis nodosa syndrome
• Trichothiodystrophy type D, synonyms: BIDS syndrome, Amish brittle hair syndrome
• Trichothiodystrophy type E, synonyms: IBIDS, Tay syndrome, trichothiodystrophy with congenital ichthyosis
• Trichothiodystrophy type F, synonym PIBIDS
• Trichothiodystrophy type G, synonym: SIBIDS syndrome and ONMR syndrome, Itin syndrome, trichothiodystrophy - osteosclerosis

Type C pollit

The name Pollitt syndrome refers to the author of a publication from 1968, the doctor RJ Pollit .

Type D BIDS

BIDS is an acronym for brittle hair, intellectual deficit, decreased fertility and short stature. The syndrome was first described in an Amish family . BIDS is associated with the MPLKIP (TTDN1) gene.

Type E IBIDS

“IBIDS” still contains I as an acronym for ichthyosis . Tay syndrome refers to the doctor Dr. Chong Hai Tay from Singapore, author of a 1971 publication.

Type F PIBIDS

In addition to type E, the PIBIDS syndrome also contains photosensitivity ( P ).

Type G ONMR

SIBIDS has osteosclerosis ONMR syndrome for onycho-tricho-dysplasia - neutropenia, Itin syndrome according to a publication from 1991. Clinically, hypoplastic fingernails, chronic neutropenia and slight psychomotor retardation are evident. Infections occur more frequently.

Individual evidence

1. ↑ ^{a b} B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
2. ↑ ^{a b c} Trichothiodystrophy. In: Orphanet (Rare Disease Database).
3. ^ RJ Pollitt, FA Jenner, M. Davies: Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. In: Archives of Disease in Childhood. Vol 43, No. 228, April 1968, pp. 211-216, ISSN  1468-2044 . PMID 5645693 . PMC 2019837 (free full text).
4. ↑ Trichothiodystrophy. In: Orphanet (Rare Disease Database).
5. ↑ Trichothiodystrophy.  In: Online Mendelian Inheritance in Man . (English)
6. ↑ Trichothiodystrophy. In: Orphanet (Rare Disease Database).
7. ↑ Trichothiodystrophy.  In: Online Mendelian Inheritance in Man . (English)
8. ↑ Trichothiodystrophy.  In: Online Mendelian Inheritance in Man . (English)
9. ↑ Trichothiodystrophy. In: Orphanet (Rare Disease Database).
10. ↑ CH Tay: Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder. In: Archives of Dermatology . Vol 104, No. 1, July 1971, pp. 4-13, ISSN  0003-987X . PMID 5120162 .
11. ↑ Trichothiodystrophy. In: Orphanet (Rare Disease Database).
12. ↑ PH Itin, MR Pittelkow: Trichothiodystrophy with chronic neutropenia and mild mental retardation. In: Journal of the American Academy of Dermatology. Vol 24, Nr 2 Pt 2, February 1991, pp 356-358, ISSN  0190-9622 . PMID 1999547 .
13. ↑ Trichothiodystrophy. In: Orphanet (Rare Disease Database).
14. ↑ Trichothiodystrophy. In: Orphanet (Rare Disease Database).
15. ↑ Trichothiodystrophy.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !