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Inherited syndrome characterized by trichorrhexis nodosa, psychomotor retardation, microcephaly, and the deficiency of high-sulfur protein in the hair.

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Trichorrhexis Nodosa Syndrome; Trichothiodystrophy-Neurocutaneous Syndrome; Neurotrichocutaneous Syndrome.

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First described in 1968 by R.J. Pollitt, a British physician.

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Extremely rare. Most likely autosomal recessive inheritance. More common in females than in males.

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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. In the two children described by King et al. from unrelated Scottish parents, the head circumference, length, and weight were below the third percentile at the age of 6 months, which was associated with developmental delay. 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. The ectodermal changes included ichthyosis, severe flexural eczema, and brittle, hypoplastic nails with koilonychia. By the age of 4 years, photosensitivity of the skin was also reported, whereas all the other manifestations remained basically unchanged. One patient also developed bilateral cataracts.

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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.

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Brittle Hair and Mental Deficit Syndrome: Genetic disorder characterized by abnormal hair fibers and mental deficiency.

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Amish Hair-Brain Syndrome: Inherited syndrome in Amish people with mild psychomotor retardation, hypogonadism, short stature, and brittle hair.

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Netherton Syndrome: This most likely autosomal recessive transmitted inborn error of metabolism manifests with bamboo hair, atopic diathesis, congenital ichthyosiform erythroderma, and hypogamma-globulinemia.

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Menkes Disease: A genetic disorder of copper metabolism beginning before birth. Copper accumulates in excessive amounts in the liver, and is deficient in most other tissues of the body. Structural changes occur in the hair, brain, bones, liver, and arteries. Other features include spontaneous hypothermia, severe developmental delay, loss of early development skills, and seizures.

King MD, Gummer CL, Stephenson JB: Trichothiodystrophy-neurotricho-cutaneous syndrome of Pollitt: A report of two unrelated ...

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