Ichthyosiform Erythroderma, Hair Shaft Abnormalities, and Mental and Growth Retardation

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

“…In 1970, Brown23 described alternating birefringence in the hair viewed under polarised microscopy in a 4-year-old girl with brittle hair and normal intelligence. Tay,24 in 1971, reported three siblings in Singapore with brittle hair, mental deficiency and growth retardation, who also had non-bullous congenital ichthyosiform erythroderma. Tay suggested an autosomal recessive pattern of inheritance.…”

The genetics of hair shaft disorders

“…35 Eight subgroups have been categorized by Itin et al 35 and include BIDS (brittle hair, intellectual impairment, decreased fertility, and short stature), IBIDS (BIDS 1 ichthyosis), PIBIDS (BIDS 1 photosensitivity), SIBIDS (otosclerosis 1 IBIDS), ONMR (onychotrichodysplasia, chronic neutropenia, and mentral retardation), and Tay, Sabinas, and Pollitt syndromes. 35,[39][40][41][42][43][44][45][46][47][48][49][50][51][52][53] Trichoschisis is characteristically seen on light microscopy. Under polarized light, the characteristic ''tiger tail'' pattern of alternating bright and dark diagonal bands is seen in most TTD patients and is rarely found in normal individuals.…”

Two Cases of Lamellar Ichthyosis with Unusual Hair Shaft Abnormalities

“…The eyebrows and hair of our two patients showed quite peculiar modifications, differ ent from those usually associated with the various type of ichthyosis: trichorrhexis invaginata [Porter and Lobili, 1970], pili torti and trichoschisis [Jorizzo et ah, 1980], trichoptilosis and pseudonodes [ Yesudian and Srinivas, 1977], pili torti and trichorrhexisnosoda-like lesions [Tay, 1971].…”