Inherited syndrome characterized by trichorrhexis nodosa, psychomotor retardation, microcephaly, and the deficiency of high-sulfur protein in the hair.
Trichorrhexis Nodosa Syndrome; Trichothiodystrophy-Neurocutaneous Syndrome; Neurotrichocutaneous Syndrome; Sabinas Syndrome; Tay Syndrome; BIDS Syndrome; SIBIDS Syndrome; PIBIDS Syndrome; IBIDS Syndrome.
First described in 1968 by R. J. Pollitt, a British physician.
Extremely rare. Fewer than 20 patients described.
Autosomal recessive inheritance. More common in females than in males.
Pollitt Syndrome is likely caused by a mutation in the TTDN1/C7orf11 (trichothiodystrophy nonphotosensitive) gene. The encoded protein product is involved in maintaining cell cycle integrity through an interaction with Polo-like kinase-1.
Psychomotor developmental delay and trichorrhexis nodosa. Mental retardation is secondary to an abnormal cortical cell layer pattern in the brain and marked microcephaly. The hair defect results from a reduced content in sulfur matrix protein (mainly because of a half-normal cystine content), hence the alternative term “trichothiodystrophy” was suggested for this disease (although this expression is also used to name the whole group of diseases with this type of hair defect associated with other ectodermal and neuroectodermal disorders). Microscopically, the hair defect is characterized by trichoschisis (transverse fractures of the hair); using polarized light reveals the typical alternation of dark and bright regions, producing a tiger-tail pattern. Patients have a short stature. Facial features included stubby eyebrows, protruding ears, and retrognathia. Neurologically, jerky eye movements, spastic diplegia, and either absent or hyperactive deep tendon reflexes were noted. Microcephaly with a short skull and small cranial vault, small and bridged sella turcica (radiological) complete the neurological defect. Absent corpus callosum and cerebellar ataxia. The ectodermal changes included ichthyosis, severe flexural eczema, and brittle, hypoplastic nails with koilonychia. In contrast, acquired trichorrhexis nodosa is frequently due to weathering caused by external factors, such as shampooing, styling, UV radiation, wetting, and natural friction.
No reports exist about anesthesia in these patients. However, the presence of retrognathia could make airway management difficult. Most likely, a smaller endotracheal tube than calculated for the age is required. Endotracheal tube and IV-line fixation, as well as vascular access in the presence of ichthyosis, may be difficult. These patients may benefit from preoperative anxiolysis and sedation.
Other conditions to be considered
☞Brittle Hair and Mental Deficit Syndrome: Genetic disorder characterized by abnormal hair fibers, short stature, sterility, alopecia from the birth, and very rare axillary and pubic hair after puberty. Patients suffer from mental deficiency; they are photosensitive.
☞Amish Hair-Brain Syndrome: Inherited syndrome in Amish people with mild psychomotor retardation, hypogonadism, short stature, and brittle hair.
☞Netherton Syndrome: Congenital disorder that involves production ...