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.
First described in 1968 by R.J. Pollitt, a British physician.
Extremely rare. Most likely
autosomal recessive inheritance. More common in females than in males.
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.
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.
Brittle Hair and Mental Deficit Syndrome: Genetic disorder characterized
by abnormal hair fibers and mental deficiency.
Amish Hair-Brain Syndrome: Inherited syndrome in Amish people with mild psychomotor retardation,
hypogonadism, short stature, and brittle hair.
Netherton Syndrome: This most likely
autosomal recessive transmitted inborn error of metabolism manifests with
bamboo hair, atopic diathesis, congenital ichthyosiform erythroderma, and
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 ...